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Gene: Gldc MGI:1341155

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Gene Summary

Name:
glycine decarboxylase
Synonyms:
D030049L12Rik,  D19Wsu57e,  b2b2679Clo

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal vertebral arch morphology Gldctm1a(EUCOMM)Wtsi HET   Early adult 2.29×10-05
preweaning lethality, complete penetrance Gldctm1a(EUCOMM)Wtsi HOM   Early adult 0.00

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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X-ray

XRay Images Forepaw

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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Legacy Phenotype Associated Images
Gldctm1a(EUCOMM)Wtsi
HET, Female, WTSI
Gldctm1a(EUCOMM)Wtsi
HET, Female, WTSI
Gldctm1a(EUCOMM)Wtsi
HET, Female, WTSI
Gldctm1a(EUCOMM)Wtsi
HET, Female, WTSI
Gldctm1a(EUCOMM)Wtsi
HET, Female, WTSI

View all 90 images

Human diseases caused by Gldc mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Gldc by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Glycine Encephalopathy
Hyperglycinuria OMIM:605899

The table below shows human diseases predicted to be associated to Gldc by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Sacral Agenesis With Vertebral Anomalies
Abnormal vertebral morphology, Absence of the sacrum OMIM:615709
Cervical Vertebral Dysplasia
Anterior atlanto-occipital dislocation, Cervical vertebral facet hypoplasia, Cervical vertebral d... OMIM:118005
Genitopalatocardiac Syndrome
Double outlet right ventricle, Cleft upper lip, Ventricular septal defect, Micrognathia, Renal cy... OMIM:231060
Microphthalmia, Syndromic 12
Retrognathia, Anophthalmia, Ventricular septal defect, Wide nasal bridge, Hypoplastic left atrium... OMIM:615524
Familial Median Cleft Of The Upper And Lower Lips
Irregular dentition, Cleft lower lip, Cleft upper lip, Fusion of gums, Abnormal mandible morpholo... ORPHA:401942
Fetal Valproate Spectrum Disorder
Long philtrum, Depressed nasal ridge, Short nose, Downturned corners of mouth, Narrow mouth, Thin... ORPHA:1906
Holzgreve Syndrome
Cleft upper lip, Renal agenesis, Hypoplastic left heart, Renal hypoplasia, Cleft palate OMIM:236110
Meckel Syndrome, Type 8
Cleft upper lip, Anophthalmia, Depressed nasal ridge, Pericardial effusion, Enlarged kidney, Poly... OMIM:613885
Thomas Syndrome
Cleft upper lip, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Hypoplastic left heart, ... ORPHA:3316
Anencephaly 2
Anophthalmia, Cleft maxillary alveolar ridge, Bifid nose, Median cleft lip, Median cleft palate OMIM:619452
Mmep Syndrome
Mandibular prognathia, Ventricular septal defect, Median cleft lip, Microphthalmia, Orofacial cleft ORPHA:3434
Spondylocostal Dysostosis 6, Autosomal Recessive
Cervical kyphosis, Butterfly vertebrae, Spinal canal stenosis, Scoliosis, Hemivertebrae OMIM:616566
Burn-Mckeown Syndrome
Underdeveloped nasal alae, Cleft upper lip, Mandibular prognathia, Ventricular septal defect, Bil... OMIM:608572
Megalencephaly, Autosomal Dominant
Macrocephaly, Hydrocephalus OMIM:155350
Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome
Underdeveloped nasal alae, Non-midline cleft lip, Convex nasal ridge, Wide nasal bridge, Cleft al... ORPHA:2007
Phenobarbital Embryopathy
Mandibular prognathia, Abnormal mitral valve morphology, Hypospadias, Abnormal nasal base norphol... ORPHA:1919
Rhiny
Inguinal hernia, Thin vermilion border, Anteverted nares, Short nose OMIM:180360
Ring Chromosome 8 Syndrome
Short nose, Abnormal palate morphology, Abnormality of the ureter, Anteverted nares, Hydronephrosis ORPHA:1450
Miller-Dieker Syndrome
Abnormal upper lip morphology, Short nose, Nephropathy, Anteverted nares, Omphalocele ORPHA:531
8P23.1 Duplication Syndrome
Wide nose, Hydronephrosis, Long philtrum, Ventricular septal defect, Tetralogy of Fallot, Pulmoni... ORPHA:251076
Cleft Lip With Or Without Cleft Palate
Non-midline cleft lip, Submucous cleft of soft and hard palate, Chronic sinusitis, Median cleft l... ORPHA:1991
14Q11.2 Microdeletion Syndrome
Patent ductus arteriosus, High palate, Ventricular septal defect, Long philtrum, Deep philtrum, M... ORPHA:261120
Recombinant Chromosome 8 Syndrome
Patent ductus arteriosus, Double outlet right ventricle, Hydronephrosis, Ventricular septal defec... OMIM:179613
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Micrognathia, Short nose, Thin upper lip vermilion, Anteverted nares, Cleft palate ORPHA:2015
Pierre Robin Syndrome
Pierre-Robin sequence, Micrognathia, Cor pulmonale, Cleft palate, Glossoptosis OMIM:261800
Fryns Syndrome
Non-midline cleft lip, Abnormal cardiac septum morphology, Ectopic anus, Wide nasal bridge, Micro... ORPHA:2059
Vertebral Hypoplasia With Lumbar Kyphosis
Lumbar kyphosis, Vertebral hypoplasia OMIM:192900
Intellectual Disability, Wolff Type
Camptodactyly of finger, Non-midline cleft lip, Wide nasal bridge, Thick lower lip vermilion, Mic... ORPHA:3080
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Macrocephaly, Hydrocephalus, Ventriculomegaly OMIM:615938
Fetal Encasement Syndrome
Congenital diaphragmatic hernia, Horseshoe kidney, Omphalocele, Tetralogy of Fallot, Increased ur... OMIM:613630
Omphalocele-Cleft Palate Syndrome, Lethal
Cleft palate, Omphalocele, Bifid uvula OMIM:258320
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect OMIM:601127
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ventricular septal defect, Wide nasal bridge, Micrognathia, Short philtrum, Downturned corners of... ORPHA:93267
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Wide nasal bridge, Smooth philtrum, Patent foramen ovale, Double outlet right ventricle, Prominen... OMIM:618316
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cleft palate, Cleft upper lip, Hematuria, Microphthalmia OMIM:120433
Trigonocephaly 1
Long philtrum, Wide nasal bridge, Long penis, Short nose, Meckel diverticulum, Omphalocele, High,... OMIM:190440
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Non-midline cleft lip, Tooth agenesis, Cleft palate ORPHA:1074
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Macrocephaly, Hydrocephalus, Ventriculomegaly OMIM:615937
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Abnormal lower lip morphology, Abnormal aortic morphology, Vesicoureteral reflux, Ventricular sep... ORPHA:1166
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft palate, Cleft upper lip OMIM:106250
Orofacial Cleft 11
Cleft palate, Cleft lip OMIM:600625
Orofacial Cleft 5
Cleft palate, Cleft upper lip OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft palate, Cleft upper lip OMIM:608864
Orofacial Cleft 10
Unilateral cleft palate, Unilateral cleft lip OMIM:613705
Orofacial Cleft 1
Cleft palate, Cleft upper lip OMIM:119530
Trisomy 1Q
Camptodactyly of finger, Patent ductus arteriosus, Wide nose, Multicystic kidney dysplasia, Conge... ORPHA:261344
Primary Basilar Invagination
Short neck, Abnormality of the cervical spine, Abnormal vertebral morphology ORPHA:2285
Ritscher-Schinzel Syndrome 1
Double outlet right ventricle, Ventricular septal defect, Micrognathia, Anal atresia, Atrial sept... OMIM:220210
Frontonasal Dysplasia 1
Joint contracture of the hand, Hypoplastic frontal sinuses, Wide nasal bridge, Camptodactyly, Bif... OMIM:136760
Disorganization, Mouse, Homolog Of
Multiple lipomas, Cleft upper lip, Sacral lipoma, Cleft palate OMIM:223200
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Bilateral microphthalmos, Anophthalmia, Orofacial cleft OMIM:611638
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Duplicated collecting system, Hydronephrosis OMIM:163850
Microphthalmia, Syndromic 9
Truncus arteriosus, Wide nasal bridge, Micrognathia, Anophthalmia, Ventricular septal defect, Atr... OMIM:601186
Trisomy 13
Patent ductus arteriosus, Hydronephrosis, Hernia, Anophthalmia, Ventricular septal defect, Long p... ORPHA:3378
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Macrocephaly, Hydrocephalus, Ventriculomegaly, Microcephaly OMIM:618709
17Q21.31 Microduplication Syndrome
High palate, Micrognathia, Short philtrum, Short nose, Anteverted nares, Malar flattening, Abnorm... ORPHA:217340
Non-Distal Trisomy 10Q
Aplasia/Hypoplasia affecting the eye, Convex nasal ridge, High palate, Micrognathia, Short nose, ... ORPHA:1695
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Abnormal oral cavity morphology, Depressed nasal ridge, Short nose, Hypospadias, Narrow mouth, An... ORPHA:1355
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Non-midline cleft lip, Ventricular septal defect, Ectopic anus, Gastroschisis, Hypoplastic left h... ORPHA:2476
Burn-Mckeown Syndrome
Wide nasal bridge, Abnormal cardiac septum morphology, Short nose, Bilateral choanal atresia, Abn... ORPHA:1200
Osteomesopyknosis
Sclerotic vertebral body, Scoliosis, Kyphosis, Abnormal form of the vertebral bodies ORPHA:2777
Chromosome 9P Deletion Syndrome
Wide nasal bridge, Micrognathia, Choanal atresia, Narrow palate, Ventricular septal defect, Atria... OMIM:158170
Congenital Laryngomalacia
Non-midline cleft lip, Cleft palate ORPHA:2373
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal cardiac septum morphology, Renal agenesis, Abnormal heart morphology, Congenital malform... ORPHA:294975
Facial Clefting, Oblique, 1
Cleft palate, Cleft upper lip, Microphthalmia OMIM:600251
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Cleft upper lip, Ventricular septal defect, Bilateral cleft lip, Bilateral cleft palate, Omphalocele OMIM:601357
2p15-16.1 microdeletion syndrome
Camptodactyly of finger, Optic disc hypoplasia, Hydronephrosis DECIPHER:70
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Macrocephaly, Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
14Q24.1Q24.3 Microdeletion Syndrome
Truncus arteriosus, Ventricular septal defect, Long philtrum, Wide nasal bridge, Atrial septal de... ORPHA:401935
Sonoda Syndrome
Depressed nasal bridge, Narrow mouth, Ventricular septal defect OMIM:270460
Thoracoabdominal Syndrome
Patent ductus arteriosus, Cleft upper lip, Ventral hernia, Renal agenesis, Ectopia cordis, Congen... OMIM:313850
X-Linked Intellectual Disability, Siderius Type
Cleft upper lip, Broad nasal tip, Orofacial cleft ORPHA:85287
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Abnormality of the urinary system, Bifid uvula, Hydronephrosis ORPHA:2669
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma ORPHA:2807
Schisis Association
Renal agenesis, Anal atresia, Tracheoesophageal fistula, Congenital diaphragmatic hernia, Cleft p... ORPHA:63862
Hypertelorism, Microtia, Facial Clefting Syndrome
Cleft upper lip, Micrognathia, Bifid nose, Ectopic kidney, Narrow mouth, Broad nasal tip, Abnorma... OMIM:239800
Tetraploidy
Aplasia/Hypoplasia affecting the eye, Convex nasal ridge, Renal hypoplasia/aplasia, Micrognathia,... ORPHA:3305
Bardet-Biedl Syndrome 19
Patent ductus arteriosus, Ventricular septal defect, Hyposmia, Atrial septal defect, Hypoplastic ... OMIM:615996
Diprosopus
Non-midline cleft lip, Abnormality of the nose, Abnormal cardiac septum morphology, Cleft palate ORPHA:1681
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia, Prominent nose, Abnormal palate morphology, Carious teeth, Prominen... ORPHA:3270
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Patent ductus arteriosus, Ventricular septal defect, Vascular ring, Atrial septal defect, Thin up... OMIM:601927
Diamond-Blackfan Anemia 6
Patent ductus arteriosus, Ventricular hypertrophy, Cleft upper lip, Retrognathia, Ventricular sep... OMIM:612561
Atypical Teratoid Rhabdoid Tumor
Macrocephaly, Hydrocephalus ORPHA:99966
Acrodysplasia Scoliosis
Spina bifida occulta, Vertebral segmentation defect, Scoliosis ORPHA:2956
Polycystic Kidney Disease 7
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal atrophy, Multiple renal cysts,... OMIM:620056
Microphthalmia, Syndromic 8
Cleft upper lip, Mandibular prognathia, Microphthalmia, Widely-spaced maxillary central incisors,... OMIM:601349
Congenital Heart Defects, Multiple Types, 5
Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomy... OMIM:617912
Diabetic Embryopathy
Aplasia/Hypoplasia of the abdominal wall musculature, Aplasia/Hypoplasia affecting the eye, Abnor... ORPHA:1926
Robinow Syndrome, Autosomal Recessive 2
Ventral hernia, Cleft soft palate, Long philtrum, Wide nasal bridge, Bicuspid aortic valve, Micro... OMIM:618529
Developmental Delay With Or Without Dysmorphic Facies And Autism
Wide nasal bridge, Micrognathia, Smooth philtrum, Cleft palate, Patent foramen ovale, Vesicourete... OMIM:618454
Gillessen-Kaesbach-Nishimura Syndrome
Retrognathia, Underdeveloped nasal alae, Flexion contracture, Convex nasal ridge, Micrognathia, P... OMIM:263210
Pentalogy Of Cantrell
Abnormal pericardium morphology, Non-midline cleft lip, Ventricular septal defect, Renal dysplasi... ORPHA:1335
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Patent ductus arteriosus, Double outlet right ventricle, Bilateral renal agenesis, Bicuspid aorti... OMIM:618845
Lethal Osteosclerotic Bone Dysplasia
Retrognathia, Mandibular aplasia, Depressed nasal ridge, Micrognathia, Gingival fibromatosis, Med... ORPHA:1832
Fanconi Anemia, Complementation Group R
Hydrocephalus, Growth delay, Microcephaly OMIM:617244
Triploidy
Non-midline cleft lip, Aplasia/Hypoplasia affecting the eye, Abnormal cardiac septum morphology, ... ORPHA:3376
Nemaline Myopathy 9
High palate, Ventricular septal defect, Micrognathia, Cleft palate, Arthrogryposis multiplex cong... OMIM:615731
Donnai-Barrow Syndrome
Ventricular septal defect, Short nose, Intestinal malrotation, Congenital diaphragmatic hernia, D... ORPHA:2143
Distal Trisomy 15Q
Camptodactyly of finger, High palate, Long philtrum, Micrognathia, Anal atresia, Downturned corne... ORPHA:1707
Pineocytoma
Hydrocephalus, Increased CSF protein concentration ORPHA:251912
Chromosome 15Q14 Deletion Syndrome
Ventricular septal defect, Recurrent viral upper respiratory tract infections, Short philtrum, At... OMIM:616898
Congenital Disorder Of Glycosylation, Type Iid
Macrocephaly, Hydrocephalus, Dandy-Walker malformation OMIM:607091
Anophthalmia Plus Syndrome
Non-midline cleft lip, Anophthalmia, Abnormal nasal morphology, Choanal atresia, Cleft palate, Bi... ORPHA:1104
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Teebi Hypertelorism Syndrome 1
Aortic root aneurysm, Ventricular septal defect, Long philtrum, Natal tooth, Wide nasal bridge, M... OMIM:145420
Maternal Phenylketonuria
Double outlet right ventricle, High palate, Ventricular septal defect, Long philtrum, Esophageal ... ORPHA:2209
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension, Hydrocephalus, Rhizomelia OMIM:166990
Perlman Syndrome
Nephroblastoma, Retrognathia, Wide nasal bridge, Broad alveolar ridges, Micrognathia, Hypoplasia ... ORPHA:2849
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia, Short philtrum, Everted lower lip vermilion, Abnormal spaced incisors, Broad nasal ... ORPHA:411986
Fetal Minoxidil Syndrome
Micrognathia, Depressed nasal bridge, Ventricular septal defect, Umbilical hernia ORPHA:1918
Non-Syndromic Metopic Craniosynostosis
Omphalocele, Wide nasal bridge ORPHA:3366
Mosaic Trisomy 1
Camptodactyly of finger, Short upper lip, Penile hypospadias, Renal cortical cysts, Ventricular s... ORPHA:1692
Spondylosis, Cervical
Spina bifida occulta, Spondylolysis, Cervical spondylosis, Spondylolisthesis OMIM:184300
Charlie M Syndrome
Non-midline cleft lip, Wide nasal bridge, Micrognathia, Short philtrum, Narrow mouth, Tooth agene... ORPHA:1406
Solitary Median Maxillary Central Incisor
Cleft upper lip, Abnormal nasopharynx morphology, Anophthalmia, Prominent median palatal raphe, T... OMIM:147250
Fetal Alcohol Syndrome
Non-midline cleft lip, Microdontia, Micrognathia, Atrial septal defect, Short nose, Congenital di... ORPHA:1915
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Camptodactyly of finger, Patent ductus arteriosus, Hydroureter, Abnormality of the upper urinary ... ORPHA:2547
Orofaciodigital Syndrome Type 5
Enamel hypoplasia, Non-midline cleft lip, Abnormality of the philtrum, Bifid tongue, Cleft soft p... ORPHA:2919
Cerebrooculonasal Syndrome
Abnormal nostril morphology, High palate, Anophthalmia, Long philtrum, Widely spaced teeth, Micro... ORPHA:66625
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia, Bilateral cleft lip and palate OMIM:600776
Kagami-Ogata Syndrome
Patent ductus arteriosus, Retrognathia, Flexion contracture, Diastasis recti, Ventricular septal ... OMIM:608149
Robinow Syndrome, Autosomal Dominant 3
Bifid tongue, Wide nasal bridge, Micrognathia, Camptodactyly, Cleft palate, Gingival overgrowth, ... OMIM:616894
Verheij Syndrome
Long philtrum, Abnormal cardiac septum morphology, Wide nasal bridge, Renal agenesis, Short nose,... OMIM:615583
Orofaciodigital Syndrome Xvii
Retrognathia, Prominent nose, Median cleft lip, Renal hypoplasia, Tetralogy of Fallot, High, narr... OMIM:617926
Renal Hypodysplasia/Aplasia 3
Vesicoureteral reflux, Multicystic kidney dysplasia, Renal dysplasia, Renal agenesis, Horseshoe k... OMIM:617805
Cayler Cardiofacial Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Autosomal Recessive Amelia
Non-midline cleft lip, Abnormal cardiac septum morphology, Micrognathia, Hypoplasia of penis, Oro... ORPHA:1027
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Frontal Encephalocele
Spina bifida, Macrocephaly, Hydrocephalus, Encephalocele ORPHA:1931
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Patent ductus arteriosus, Double outlet right ventricle, High palate, Wide nasal bridge, Microgna... ORPHA:3304
Pierre Robin Syndrome And Oligodactyly
Cleft palate, Micrognathia, Pierre-Robin sequence OMIM:172880
Fetal Trimethadione Syndrome
High palate, Ventricular septal defect, Micrognathia, Atrial septal defect, Short nose, Hypospadi... ORPHA:1913
Weyers Ulnar Ray/Oligodactyly Syndrome
Cleft upper lip, High palate, Micrognathia, Solitary median maxillary central incisor, Cleft pala... OMIM:602418
Lethal Omphalocele-Cleft Palate Syndrome
Retrognathia, Cleft soft palate, Bifid uvula, Cleft palate, Omphalocele, Unilateral cleft lip ORPHA:2736
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Meckel Syndrome, Type 2
Intestinal malrotation, Renal cyst, Microphthalmia, Cleft palate, Omphalocele OMIM:603194
22Q11.2 Duplication Syndrome
Wide nose, Ventricular septal defect, Depressed nasal ridge, Interrupted aortic arch, Micrognathi... ORPHA:1727
Indomethacin Embryofetopathy
Multicystic kidney dysplasia, Ventricular septal defect, Abnormal renal tubule morphology, Atrial... ORPHA:1909
Dislocation Of The Hip-Dysmorphism Syndrome
Patent ductus arteriosus, Depressed nasal ridge, Abnormal cardiac septum morphology, Wide nasal b... ORPHA:2412
Maxillonasal Dysplasia
Abnormal nostril morphology, Mandibular prognathia, Depressed nasal ridge, Microdontia, Short nos... ORPHA:1248
Baraitser-Winter Syndrome 1
Patent ductus arteriosus, Retrognathia, Cleft upper lip, Long philtrum, Wide mouth, Wide nasal br... OMIM:243310
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Pulmonic stenosis, Hydroureter, Prune belly, Hydronephrosis OMIM:264140
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Patent foramen ovale, Overhanging nasal tip, Ventricular septal defect, Long philtrum, Bulbous no... OMIM:618494
Microphthalmia With Limb Anomalies
Retrognathia, Cleft upper lip, High palate, Anophthalmia, Deep philtrum, Short nose, Depressed na... OMIM:206920
X-Linked Intellectual Disability, Abidi Type
Non-midline cleft lip, Prominent nasal bridge, Cleft palate ORPHA:85273
Orofacial Cleft 14
Median cleft lip OMIM:615892
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Non-midline cleft lip, Abnormality of the philtrum, Ventricular septal defect, Renal hypoplasia/a... ORPHA:1770
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Underdeveloped nasal alae, Ventricular septal defect, Truncus arteriosus, Unilateral renal agenes... OMIM:601355
Zechi-Ceide Syndrome
Underdeveloped nasal alae, Wide nose, Cleft upper lip, Wide nasal bridge, Oligodontia, Cleft pala... OMIM:612916
Opitz Gbbb Syndrome
Vesicoureteral reflux, Cleft upper lip, High palate, Ventricular septal defect, Wide nasal bridge... OMIM:300000
17P13.3 Microduplication Syndrome
Wide nose, High palate, Hypoplasia of penis, Short nose, Inguinal hernia, Narrow mouth ORPHA:217385
Adenylosuccinate Lyase Deficiency
Long philtrum, Short nose, Thin upper lip vermilion, Anteverted nares, Smooth philtrum ORPHA:46
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Hypoplastic pulmonary veins, Ventricular septal defect, Secundum a... OMIM:613854
C Syndrome
Patent ductus arteriosus, High palate, Ventricular septal defect, Wide mouth, Renal cortical cyst... OMIM:211750
2q33.1 deletion syndrome
Inguinal hernia, High palate, Cleft palate DECIPHER:51
Masa Syndrome
Ventriculomegaly, Short stature, Macrocephaly, Hydrocephalus, Microcephaly OMIM:303350
Megabladder, Congenital
Patent ductus arteriosus, Ventricular septal defect, Stage 5 chronic kidney disease, Bicuspid aor... OMIM:618719
Oculomaxillofacial Dysostosis
Camptodactyly of finger, Underdeveloped nasal alae, Aplasia/Hypoplasia affecting the eye, Wide na... ORPHA:1794
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Underdeveloped nasal alae, Depressed nasal ridge, Deep philtrum, Wide nasal bridge, Micrognathia,... ORPHA:77300
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Hydrolethalus
Retrognathia, Anophthalmia, Gingival cleft, Micrognathia, Bifid uvula, Submucous cleft hard palat... ORPHA:2189
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Absent nares, Single naris, Anophthalmia, Hyposmia, Bifid uvula, Submucous cleft hard palate, Hyp... ORPHA:2250
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Oculocerebrocutaneous Syndrome
Microphthalmia, Cleft palate, Anophthalmia, Cleft ala nasi OMIM:164180
Omphalocele
Omphalocele ORPHA:660
Braddock-Carey Syndrome 1
Enamel hypoplasia, Multicystic kidney dysplasia, Pierre-Robin sequence, Ventricular septal defect... OMIM:619980
Aneurysm, Intracranial Berry, 12
Fusiform cerebral aneurysm, Arterial fibromuscular dysplasia, Cerebral berry aneurysm, Subarachno... OMIM:618734
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Ventricular septal defect, Wide mouth, Short nose, Delayed eruption of permanent teeth, Anteverte... OMIM:618506
Hadziselimovic Syndrome
Ventricular hypertrophy, High palate, Ventricular septal defect, Thick lower lip vermilion, Anal ... OMIM:612946
Hypothyroidism, Congenital, Nongoitrous, 4
Omphalocele, Depressed nasal bridge, Macroglossia, Umbilical hernia OMIM:275100
Pseudotrisomy 13 Syndrome
Cleft upper lip, Ventricular septal defect, Renal agenesis, Anal atresia, Atrial septal defect, C... OMIM:264480
Combined Oxidative Phosphorylation Deficiency 25
Vascular dilatation, Long philtrum, Wide nasal bridge, Short nose, Depressed nasal bridge, Anteve... OMIM:616430
Suleiman-El-Hattab Syndrome
Patent foramen ovale, High palate, Ventricular septal defect, Long philtrum, Wide mouth, Thick lo... OMIM:618950
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Trisomy 17P
Flexion contracture, Micrognathia, Smooth philtrum, Cleft palate, Thick nasal alae, Orofacial cle... ORPHA:261290
Cat Eye Syndrome
Micrognathia, Cleft palate, Rectal fistula, Vesicoureteral reflux, Ventricular septal defect, Atr... OMIM:115470
Renal Dysplasia, Cystic, Susceptibility To
Vesicoureteral reflux, Renal dysplasia, Cystic renal dysplasia, Renal insufficiency, Hyperechogen... OMIM:601331
Carpenter Syndrome 1
Patent ductus arteriosus, High palate, Ventricular septal defect, Joint contracture of the hand, ... OMIM:201000
Genitopalatocardiac Syndrome
Non-midline cleft lip, Multicystic kidney dysplasia, Abnormal cardiac septum morphology, Wide nas... ORPHA:2075
Van Der Woude Syndrome 1
Cleft upper lip, Lower lip pit, Hypodontia, Bifid uvula, Cleft palate OMIM:119300
Chromosome 6Q11-Q14 Deletion Syndrome
High palate, Long philtrum, Micrognathia, Short nose, Inguinal hernia, Thin upper lip vermilion, ... OMIM:613544
Melanocytic Nevus Syndrome, Congenital
Long philtrum, Deep philtrum, Narrow nasal ridge, Prominence of the premaxilla, Short nose, Evert... OMIM:137550
Opitz Gbbb Syndrome
Ectopic anus, Wide nasal bridge, Micrognathia, Abnormality of the urinary system, Cleft palate, A... ORPHA:2745
Dural Sinus Malformation
Cerebellar hemorrhage, Vascular dilatation, Cerebral hemorrhage, Macrocephaly, Hydrocephalus, Car... ORPHA:97339
Saccharopinuria
Hyperlysinuria, Short stature, Histidinuria, Saccharopinuria, Citrullinuria OMIM:268700
Holoprosencephaly-Postaxial Polydactyly Syndrome
Absent nares, Abnormal cardiac septum morphology, Hypoplasia of the premaxilla, Renal hypoplasia/... ORPHA:2166
Teebi Hypertelorism Syndrome 2
High palate, Delayed eruption of teeth, Microdontia, Short nose, Everted lower lip vermilion, Thi... OMIM:619736
Tetraamelia Syndrome 2
Hypoplastic pulmonary veins, Ventricular septal defect, Bilateral cleft lip, Ankyloglossia, Micro... OMIM:618021
Orofaciodigital Syndrome Xv
Lobulated tongue, Wide nasal bridge, Midline notch of upper alveolar ridge, Anteverted nares, Hyd... OMIM:617127
Nephrotic Syndrome, Type 11
Renal tubular atrophy, IgA deposition in the glomerulus, High palate, Ventricular septal defect, ... OMIM:616730
Cleft Palate-Lateral Synechia Syndrome
Micrognathia, Oral synechia, Everted lower lip vermilion, Narrow mouth, Cleft palate ORPHA:2016
Catel-Manzke Syndrome
Camptodactyly of finger, Ventricular septal defect, Micrognathia, Oral synechia, Atrial septal de... ORPHA:1388
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Abnormally large globe, Cleft upper lip, Mandibular prognathia, Wide nasal bridge, Aganglionic me... OMIM:239300
Donnai-Barrow Syndrome
Non-acidotic proximal tubulopathy, Ventricular septal defect, Hypoplasia of the iris, Short nose,... OMIM:222448
Recombinant 8 Syndrome
Camptodactyly of finger, Patent ductus arteriosus, Cleft upper lip, Ventricular septal defect, Ab... ORPHA:96167
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Cleft upper lip, Wide nasal bridge, Bifid uvula, Anteverted nares, Dysplastic pulmonary valve, Cl... OMIM:300958
3C Syndrome
Atrioventricular canal defect, Ectopic anus, Wide nasal bridge, Micrognathia, Cleft palate, Orofa... ORPHA:7
Cleft Lip-Retinopathy Syndrome
Non-midline cleft lip ORPHA:1995
Joubert Syndrome 18
Retrognathia, Lobulated tongue, Ventricular septal defect, Camptodactyly, Renal cyst, Horseshoe k... OMIM:614815
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Retrognathia, Wrist flexion contracture, Flexion contracture, Diastasis recti, Camptodactyly, Mac... ORPHA:254528
Focal Dermal Hypoplasia
Camptodactyly of finger, Abnormal cardiac septum morphology, Tooth agenesis, Abnormal dental enam... ORPHA:2092
Pseudodiastrophic Dysplasia
Malar flattening, Omphalocele ORPHA:85174
Congenital Anomalies Of Kidney And Urinary Tract 3
Vesicoureteral reflux, Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Hydronephr... OMIM:618270
Meckel Syndrome, Type 5
Renal cyst, Cleft palate, Cleft upper lip, Microphthalmia OMIM:611561
X-Linked Intellectual Disability, Schimke Type
Knee flexion contracture, Vesicoureteral reflux, High palate, Hip contracture, Elbow flexion cont... ORPHA:85285
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Cleft upper lip, Depressed nasal ridge, Joint contracture of the hand, Camptodactyly, Cleft palate OMIM:601016
Testicular Anomalies With Or Without Congenital Heart Disease
Microphallus, Inguinal hernia, Corpus cavernosum hypoplasia, Perineal hypospadias, Tetralogy of F... OMIM:615542
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Patent ductus arteriosus, Long philtrum, Micrognathia, Renal agenesis, Short nose, Hypospadias, S... ORPHA:171839
1Q21.1 Microduplication Syndrome
Hypospadias, Hydrocephalus, Tetralogy of Fallot, Macrocephaly ORPHA:250994
Miller-Dieker Lissencephaly Syndrome
Thick upper lip vermilion, Joint contracture of the hand, Delayed eruption of teeth, Wide nasal b... OMIM:247200
Non-Syndromic Posterior Hypospadias
Esophageal atresia, Anal atresia, Urethral diverticulum, Ventral shortening of foreskin, Congenit... ORPHA:95706
Vacterl/Vater Association
Non-midline cleft lip, Multicystic kidney dysplasia, Abnormal cardiac septum morphology, Renal ag... ORPHA:887
Acalvaria
Cleft palate, Omphalocele ORPHA:945
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus, Intracranial hemorrhage, Microcephaly ORPHA:398189
Double Outlet Right Ventricle
Double outlet right ventricle, Truncus arteriosus, Ventricular septal defect, Submucous cleft har... ORPHA:3426
Chudley-Mccullough Syndrome
Hydrocephalus, Ventriculomegaly OMIM:604213
Chromosome 1Q41-Q42 Deletion Syndrome
Cleft upper lip, High palate, Ventricular septal defect, Deep philtrum, Widely spaced teeth, Shor... OMIM:612530
Van Der Woude Syndrome 2
Dental malocclusion, Cleft upper lip, Lip pit, Hypodontia, Anodontia, Cleft palate OMIM:606713
Distal Trisomy 6P
Aplasia/Hypoplasia affecting the eye, Hernia, Micrognathia, Narrow mouth, Renal hypoplasia, Abnor... ORPHA:1745
Congenital Primary Megaureter
Vesicoureteral reflux, Hydronephrosis, Congenital megaureter, Recurrent urinary tract infections,... ORPHA:617
Aarskog-Scott Syndrome
Camptodactyly of finger, Cleft upper lip, Long philtrum, Wide nasal bridge, Delayed eruption of t... ORPHA:915
Oculoauriculovertebral Spectrum With Radial Defects
Atrioventricular canal defect, Aplasia/Hypoplasia affecting the eye, Non-midline cleft lip, Vesic... ORPHA:2549
Specc1L-Related Hypertelorism Syndrome
Patent ductus arteriosus, Ventricular septal defect, Long philtrum, Wide nasal bridge, Advanced e... ORPHA:1519
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Underdeveloped nasal alae, Abnormal aortic morphology, Truncus arteriosus, Ventricular septal def... ORPHA:2516
Cleft Palate, Isolated
Micrognathia, Cleft palate, Increased overbite, Gingival overgrowth, Anterior open-bite malocclusion OMIM:119540
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Patent ductus arteriosus, Lobulated tongue, Bifid tongue, Prominent nose, Natal tooth, Hypoplasti... OMIM:616300
Beaulieu-Boycott-Innes Syndrome
Patent ductus arteriosus, Dental malocclusion, Ventricular septal defect, Recurrent urinary tract... OMIM:613680
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Inguinal hernia, Aganglionic megacolon, Anal atresia, Hydronephrosis OMIM:235760
Blepharonasofacial Malformation Syndrome
Underdeveloped nasal alae, Non-midline cleft lip, Wide nose, Long philtrum, Wide nasal bridge, In... ORPHA:1252
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Retrognathia, Short nose, Broad nasal tip, Enuresis, Open mouth, Malar flattening OMIM:613670
Oculoauriculofrontonasal Syndrome
Underdeveloped nasal alae, Wide nose, Ventricular septal defect, Micrognathia, Narrow mouth, Peri... ORPHA:398156
Nephronophthisis 20
Vesicoureteral reflux, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Renal insuff... OMIM:617271
Lethal Congenital Contracture Syndrome 10
Convex nasal ridge, Narrow palate, Ventricular septal defect, High palate, Long philtrum, Microgn... OMIM:617022
Axial Mesodermal Dysplasia Spectrum
Renal hypoplasia/aplasia, Micrognathia, Anal atresia, Tracheoesophageal fistula, Congenital diaph... ORPHA:1834
Mosaic Trisomy 14
Camptodactyly of finger, Aplasia/Hypoplasia affecting the eye, High palate, Ectopic anus, Wide mo... ORPHA:1703
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Cleft upper lip, Micrognathia, Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Cleft p... OMIM:601076
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology, Abnormal nasal morphology, Depress... ORPHA:83473
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Bardet-Biedl Syndrome 10
Renal cyst, Renal insufficiency OMIM:615987
Chromosome 22Q11.2 Deletion Syndrome, Distal
Underdeveloped nasal alae, Truncus arteriosus, Thin upper lip vermilion, Smooth philtrum, Malar f... OMIM:611867
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Wide nose, Patent foramen ovale, Double outlet right ventricle, Ventricular septal defect, Long p... ORPHA:477817
Maxillonasal Dysplasia, Binder Type
Dental malocclusion, Short columella, Depressed nasal bridge, Short nose OMIM:155050
Intellectual Developmental Disorder, X-Linked 91
High palate, Macrodontia, Short nose OMIM:300577
Distal Monosomy 10P
Non-midline cleft lip, Convex nasal ridge, Ectopic anus, Wide nasal bridge, Micrognathia, Hypopla... ORPHA:1580
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Atrioventricular canal defect, Micrognathia, Pulmonary artery dilatation, Pulmonary artery stenos... OMIM:265380
Pallister-Hall-Like Syndrome
Renal dysplasia, Micrognathia, Median cleft lip, Short nose, Depressed nasal bridge, Microglossia... OMIM:241800
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Renal dysplasia, Anal atresia, Prune belly, Hypertrophy of the urinary bladder, Renal hypoplasia,... OMIM:601389
Congenital Myopathy 19
High palate, Depressed nasal ridge, Congenital contracture, Micrognathia, Renal atrophy, Hydronep... OMIM:618578
Basel-Vanagaite-Smirin-Yosef Syndrome
Retrognathia, High palate, Ventricular septal defect, Short philtrum, Atrial septal defect, Evert... OMIM:616449
Homocystinuria Due To Deficiency Of N(5,10)-Methylenetetrahydrofolate Reductase Activity
Stroke, Homocystinuria, Microcephaly OMIM:236250
Holoprosencephaly 7
Wide nasal bridge, Median cleft lip, Hypoplastic nasal septum, Depressed nasal tip, Cleft palate,... OMIM:610828
Neural Tube Defects, Susceptibility To
Urinary incontinence, Myelomeningocele, Anencephaly, Hydrocephalus, Spina bifida occulta OMIM:182940
Chromosome 10Q26 Deletion Syndrome
Patent ductus arteriosus, Vesicoureteral reflux, Convex nasal ridge, High palate, Long philtrum, ... OMIM:609625
Orofaciodigital Syndrome Viii
High palate, Median cleft lip, Broad nasal tip, Bifid nasal tip, Cleft palate OMIM:300484
Spina Bifida-Hypospadias Syndrome
Spina bifida, Hypospadias, Spinal dysraphism ORPHA:3176
Ventricular Septal Defect 1
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Tetralogy of Fall... OMIM:614429
Renal Caliceal Diverticuli-Deafness Syndrome
Abnormality of the kidney, Hydroureter, Abnormality of the upper urinary tract, Abnormality of th... ORPHA:2838
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Ventricular septal defect, Thick lower lip vermilion, Micrognathia, Short philtrum, Atrial septal... OMIM:608227
Kapur-Toriello Syndrome
Camptodactyly of finger, Patent ductus arteriosus, Cleft upper lip, Ventricular septal defect, Jo... OMIM:244300
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Hydrocephalus, Hydranencephaly, Holoprosencephaly, Dandy-Walker malformation OMIM:617967
Trisomy 18
Camptodactyly of finger, Non-midline cleft lip, Hernia, Ventricular septal defect, Narrow palate,... ORPHA:3380
Split hand/foot malformation 1 (SHFM1)
Abnormality of the urinary system, Cleft palate, Median cleft lip DECIPHER:46
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Patent ductus arteriosus, Conical tooth, Cleft upper lip, Ventricular septal defect, Wide nasal b... OMIM:106260
Alagille Syndrome 2
Renal insufficiency, Renal tubular acidosis, Hematuria, Atrial septal defect, Renal cyst, Periphe... OMIM:610205
Ehlers-Danlos Syndrome, Periodontal Type, 2
Gingival recession, Nephroblastoma, Periodontitis, Gingival fragility, Prominent superficial vein... OMIM:617174
Distal Monosomy 7Q36
Non-midline cleft lip, Hernia, Wide mouth, Micrognathia, Hypoplasia of penis, Cleft palate, Bulbo... ORPHA:1636
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Vesicoureteral reflux, Mandibular prognathia, Ventricular septal defect, Wide mouth, Recurrent ur... OMIM:619103
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Mandibular prognathia, Wide mouth, Short philtrum, Short nose, Everted lower lip vermilion, Thin ... ORPHA:2429
Branchio-Oculo-Facial Syndrome
Non-midline cleft lip, Hydronephrosis, Multicystic kidney dysplasia, High palate, Upper lip pit, ... ORPHA:1297
Xk Aprosencephaly Syndrome
Abnormal nostril morphology, Ventricular septal defect, Anal atresia, Atrial septal defect, Narro... ORPHA:3469
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Aplasia/Hypoplasia involving the nose, High palate, Inguinal hernia, Tooth agenesis, Microphthalm... ORPHA:1135
Developmental And Epileptic Encephalopathy 36
Macrocephaly, Hydrocephalus, Abnormal bleeding, Microcephaly OMIM:300884
Zaki Syndrome
Patent ductus arteriosus, Patent foramen ovale, Wide nose, High palate, Wide mouth, Wide nasal br... OMIM:619648
Otopalatodigital Syndrome Type 2
Camptodactyly of finger, Pierre-Robin sequence, Abnormal cardiac septum morphology, Glossoptosis,... ORPHA:90652
Adams-Oliver Syndrome 4
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect, Microphthalmia, Umbili... OMIM:615297
Stimmler Syndrome
Aminoaciduria, Intrauterine growth retardation, Short stature, Microcephaly ORPHA:3199
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Cleft upper lip, Hyposmia, Unilateral renal agenesis, Anosmia, Cleft palate, Micropenis OMIM:244200
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Cleft upper lip, Atrophic gastritis, Cleft palate OMIM:137215
Pierpont Syndrome
Wide nose, Widely spaced teeth, Prominent median palatal raphe, Short nose, Everted lower lip ver... OMIM:602342
Renal Tubular Dysgenesis
Proximal tubulopathy, Nephropathy, Multiple renal cysts, Tetralogy of Fallot, Renotubular dysgenesis ORPHA:3033
Nephronophthisis 16
Patent ductus arteriosus, Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysp... OMIM:615382
Dibasic Amino Aciduria I
Argininuria, Hyperlysinuria, Ornithinuria, Dibasicaminoaciduria OMIM:222690
Intellectual Disability, Buenos-Aires Type
Dental malocclusion, Mandibular prognathia, High palate, Abnormal cardiac septum morphology, Wide... ORPHA:3079
Non-Distal Trisomy 13Q
Aplasia/Hypoplasia affecting the eye, High palate, Hernia, Long philtrum, Micrognathia, Short nos... ORPHA:1702
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Hydrocephalus, Ventriculomegaly, Macrocephaly at birth ORPHA:324416
Manitoba Oculotrichoanal Syndrome
Anophthalmia, Anteriorly placed anus, Microphthalmia, Omphalocele, Anal stenosis OMIM:248450
6P22 Microdeletion Syndrome
Patent ductus arteriosus, Abnormal palate morphology, Hernia, Hydronephrosis ORPHA:251046
Clark-Baraitser Syndrome
High palate, Long philtrum, Wide mouth, Short philtrum, Short nose, Thin upper lip vermilion, Dow... OMIM:617752
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Patent ductus arteriosus, High palate, Ventricular septal defect, Long philtrum, Wide nasal bridg... OMIM:220500
Epilepsy, Pyridoxine-Dependent
Hydrocephalus OMIM:266100
Pai Syndrome
Midline central nervous system lipomas, Bifid uvula, Abnormal oral frenulum morphology, Nasal pol... ORPHA:1993
Acrocallosal Syndrome
Everted upper lip vermilion, Abnormal cardiac septum morphology, Wide nasal bridge, Bifid uvula, ... OMIM:200990
Microphthalmia, Syndromic 11
Cleft palate, Cleft upper lip, Microphthalmia OMIM:614402
Biemond Syndrome Ii
Hydrocephalus, Short stature OMIM:210350
Omphalocele, X-Linked
Omphalocele OMIM:310980
Omphalocele, Autosomal
Omphalocele OMIM:164750
Hypothyroidism, Congenital, Nongoitrous, 6
Omphalocele, Macroglossia, Delayed eruption of teeth OMIM:614450
Keratoconus Posticus Circumscriptus
Cleft palate, Cleft upper lip, Vesicoureteral reflux, Recurrent urinary tract infections OMIM:244600
Klippel-Feil Syndrome 2, Autosomal Recessive
Cleft palate, Cleft upper lip, Ventricular septal defect OMIM:214300
Fatty Acyl-Coa Reductase 1 Deficiency
Long philtrum, Short nose, Thin upper lip vermilion, Depressed nasal bridge, Smooth philtrum ORPHA:438178
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Melnick-Needles Syndrome
Vesicoureteral reflux, Hydronephrosis, Abnormal cardiac septum morphology, Delayed eruption of te... ORPHA:2484
Catifa Syndrome
Long philtrum, Delayed eruption of teeth, Camptodactyly, Inguinal hernia, Cleft lip, Anteverted n... OMIM:618761
Brain Small Vessel Disease 2
Growth delay, Intracranial hemorrhage, Ventriculomegaly OMIM:614483
Say Syndrome
Cleft palate, Micrognathia, Cystic renal dysplasia, Proximal renal tubular acidosis OMIM:181180
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Mandibular prognathia, Ventricular septal defect, Ectopic anus, Short philtrum, Downturned corner... ORPHA:94066
Toluene Embryopathy
Micrognathia, Short nose, Abnormal localization of kidney, Smooth philtrum, Hypoplasia of the zyg... ORPHA:1920
Whistling Face Syndrome, Recessive Form
Knee flexion contracture, Underdeveloped nasal alae, High palate, Long philtrum, Micrognathia, El... OMIM:277720
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
Internal Carotid Absence
Dilatation of the cerebral artery, Subarachnoid hemorrhage, Cerebral ischemia ORPHA:981
Fryns Syndrome
Wide nasal bridge, Camptodactyly, Cleft palate, Aplasia of the left hemidiaphragm, Ventricular se... OMIM:229850
Femoral-Facial Syndrome
Long philtrum, Renal hypoplasia/aplasia, Micrognathia, Polycystic kidney dysplasia, Long penis, S... ORPHA:1988
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Cleft upper lip, Depressed nasal ridge, Optic nerve hypoplasia, Bilateral microphthalmos, Cleft p... OMIM:607597
Bladder Exstrophy
Vesicoureteral reflux, Abnormality of the anus, Recurrent urinary tract infections, Hypoplasia of... ORPHA:93930
Holoprosencephaly 13, X-Linked
Patent ductus arteriosus, Patent foramen ovale, Double outlet right ventricle, Ventricular septal... OMIM:301043
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Aplasia of the nose, Renal hypoplasia/aplasia, Median cleft lip, Tetralogy of Fallot, Microphthal... ORPHA:3186
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
High palate, Midline central nervous system lipomas, Bifid uvula, Nasal polyposis, Median cleft lip OMIM:155145
Heterotaxy, Visceral, 1, X-Linked
Subvalvular aortic stenosis, Atrioventricular canal defect, Duodenal atresia, Right atrial isomer... OMIM:306955
Neurocutaneous Melanocytosis
Meningocele, Ventriculomegaly, Renal hypoplasia/aplasia, Intracranial hemorrhage, Dandy-Walker ma... ORPHA:2481
Osteopathia Striata With Cranial Sclerosis
Paranasal sinus hypoplasia, Wide nasal bridge, Micrognathia, Bifid uvula, Camptodactyly, Cleft pa... OMIM:300373
Lowry-Maclean Syndrome
Cleft palate, Convex nasal ridge, Abnormal heart morphology, Delayed eruption of teeth OMIM:600252
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus, Microcephaly ORPHA:26
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Thin vermilion border, Narrow mouth, Abnormal cardiac septum morphology, Short nose ORPHA:2370
Kleefstra Syndrome
Delayed eruption of teeth, Everted lower lip vermilion, Pulmonary artery stenosis, Vesicoureteral... ORPHA:261494
Emanuel Syndrome
Multiple joint contractures, Truncus arteriosus, Delayed eruption of teeth, Ectopic anus, Microgn... ORPHA:96170
Congenital Heart Defects, Multiple Types, 4
Atrioventricular canal defect, Ventricular septal defect, Coarctation of aorta, Hypoplastic left ... OMIM:615779
Facial Paresis, Hereditary Congenital, 3
High palate, Micrognathia, Short philtrum, Short nose, Downturned corners of mouth, Depressed nas... OMIM:614744
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Tricuspid Atresia
Patent foramen ovale, Ventricular septal defect, Transposition of the great arteries, Atrial sept... ORPHA:1209
Teebi-Shaltout Syndrome
Underdeveloped nasal alae, Ventricular septal defect, Wide mouth, High, narrow palate, Wide nasal... OMIM:272950
Trisomy 12P
Aplasia/Hypoplasia affecting the eye, Wide nasal bridge, Aplasia/Hypoplasia of the iris, Microgna... ORPHA:1699
Isolated Anencephaly
Congenital diaphragmatic hernia, Omphalocele, Cleft lip ORPHA:563609
Intellectual Developmental Disorder, Autosomal Recessive 13
Cleft upper lip, Wide nasal bridge, Short philtrum, Downturned corners of mouth, Smooth philtrum OMIM:613192
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
High palate, Ventricular septal defect, Wide nasal bridge, Thyroid lymphangiectasia, Micrognathia... OMIM:235255
Tetralogy Of Fallot
Abnormal nasal morphology, Thin vermilion border, Tetralogy of Fallot ORPHA:3303
Chromosome 18Q Deletion Syndrome
Ascending tubular aorta aneurysm, Bifid uvula, Cleft palate, Absence of the pulmonary valve, Vent... OMIM:601808
Trisomy 8Q
Camptodactyly of finger, Non-midline cleft lip, Bifid tongue, High palate, Wide nasal bridge, Mic... ORPHA:1752
Bardet-Biedl Syndrome 16
Renal dysplasia, Stage 5 chronic kidney disease, Renal agenesis, Renal cyst, Renal insufficiency OMIM:615993
Cat-Eye Syndrome
Renal hypoplasia/aplasia, Anal atresia, Abnormal localization of kidney, Microphthalmia, Hydronep... ORPHA:195
Holoprosencephaly
Median cleft lip, Tooth agenesis, Depressed nasal tip, Abnormality of the urinary system, Intesti... ORPHA:2162
8Q12 Microduplication Syndrome
Vesicoureteral reflux, Long philtrum, Ventricular septal defect, Wide nasal bridge, Atrial septal... ORPHA:228399
Even-Plus Syndrome
Patent foramen ovale, Vesicoureteral reflux, High palate, Depressed nasal ridge, Recurrent urinar... OMIM:616854
Intellectual Developmental Disorder, Autosomal Recessive 71
Abnormally large globe, Ventricular septal defect, Unilateral renal agenesis, Prune belly, Increa... OMIM:618504
Congenital Megacalycosis
Tubulointerstitial nephritis, Dilatation of renal calices, Recurrent urinary tract infections, En... ORPHA:93109
Trigonocephaly With Short Stature And Developmental Delay
Convex nasal ridge, High palate, Ventricular septal defect, Wide nasal bridge, Broad alveolar rid... OMIM:314320
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Diabetes Insipidus, Neurohypophyseal
Wide nose, Long philtrum, Short nose OMIM:125700
Potocki-Shaffer Syndrome
Underdeveloped nasal alae, Wide nasal bridge, Short philtrum, Short nose, Downturned corners of m... OMIM:601224
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Abnormality of the philtrum, Cleft upper lip, Hypodontia, Microdontia, Anodontia, Cleft palate, M... OMIM:225060
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect, Microretrognathia, Int... ORPHA:457193
Developmental And Epileptic Encephalopathy 49
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Microcephaly OMIM:617281
Okamoto Syndrome
Abnormally large globe, Wide nasal bridge, Exaggerated median tongue furrow, Cleft palate, Ventri... ORPHA:2729
Koolen-De Vries Syndrome
Abnormal cardiac septum morphology, Wide nasal bridge, Microdontia, Everted lower lip vermilion, ... ORPHA:96169
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Long philtrum, Atrial septal defect, Short nose, Tetralogy of Fallot OMIM:300887
Mitochondrial Myopathy And Sideroblastic Anemia
Micrognathia, High palate, Long philtrum, Short nose ORPHA:2598
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Patent ductus arteriosus, Flexion contracture, Ventricular septal defect, Interphalangeal thumb j... OMIM:613870
Lambert Syndrome
Ventricular septal defect, Wide mouth, Inguinal hernia, Hypospadias, Malar flattening ORPHA:1296
Brain Malformations With Or Without Urinary Tract Defects
Vesicoureteral reflux, Short nose, Inguinal hernia, Thin upper lip vermilion, Narrow mouth, Antev... OMIM:613735
Short Stature And Facioauriculothoracic Malformations
Cleft palate, Cleft upper lip, High palate, Ventricular septal defect OMIM:609654
Hartsfield Syndrome
Non-midline cleft lip, Depressed nasal bridge, Microphthalmia, Cleft palate ORPHA:2117
Cardiac Diverticulum
Bicuspid pulmonary valve, Pulmonary artery stenosis, Endocarditis, Patent foramen ovale, Ventricu... ORPHA:1686
Skraban-Deardorff Syndrome
Thick upper lip vermilion, Ventricular septal defect, Widely spaced teeth, Micrognathia, Hyperpla... OMIM:617616
Mckusick-Kaufman Syndrome
Patent ductus arteriosus, Urogenital sinus anomaly, Multicystic kidney dysplasia, High palate, Ve... ORPHA:2473
Hamel Cerebro-Palato-Cardiac Syndrome
Wide nasal bridge, Micrognathia, Atrial septal defect, Narrow mouth, Malar flattening, Bulbous no... ORPHA:93946
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Flexion contracture, Ventricular septal defect, Wide nasal bridge, Micrognathia, Short nose, Unil... OMIM:616897
Hyperprolinemia, Type Ii
Prolinuria, Hyperglycinuria, Hydroxyprolinuria OMIM:239510
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome
Non-midline cleft lip, Arthrogryposis multiplex congenita, Cleft palate ORPHA:1484
15Q14 Microdeletion Syndrome
Convex nasal ridge, Ventricular septal defect, Long philtrum, Short philtrum, Atrial septal defec... ORPHA:261190
Alg9-Cdg
Hypoplasia of the bladder, Convex nasal ridge, Pericardial effusion, Micrognathia, Abnormal left ... ORPHA:79328
Prune Belly Syndrome
Patent ductus arteriosus, Vesicoureteral reflux, Urogenital sinus anomaly, Multicystic kidney dys... ORPHA:2970
Chromosome 15Q25 Deletion Syndrome
Dilatation of renal calices, Cleft upper lip, Ventricular septal defect, Abnormal cardiac septum ... OMIM:614294
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Convex nasal ridge, High palate, Broad secondary alveolar ridge, Ventricular septal defect, Wide ... ORPHA:3369
Microcephaly-Capillary Malformation Syndrome
Wide nose, Patent foramen ovale, Vesicoureteral reflux, Ventricular septal defect, Atrial septal ... OMIM:614261
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Patent ductus arteriosus, Anophthalmia, Ventricular septal defect, Esophageal atresia, Hypoplasia... ORPHA:77298
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Long philtrum, Deep philtrum, Renal dysplasia, Wide nasal bridge, Microretrognathia, Short nose, ... OMIM:618571
Craniofacial-Deafness-Hand Syndrome
Camptodactyly of finger, Aplasia/Hypoplasia involving the nose, Depressed nasal ridge, Short nose... ORPHA:1529
Mesoaxial Hexadactyly And Cardiac Malformation
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect, Everted lower lip verm... OMIM:249670
Conotruncal Heart Malformations
Double outlet right ventricle, Truncus arteriosus, Coarctation of aorta, Complete atrioventricula... OMIM:217095
Caudal Duplication
Renal hypoplasia/aplasia, Intestinal duplication, Omphalocele, Ureteral duplication, Abnormal pen... ORPHA:1756
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Thick upper lip vermilion, Camptodactyly, Smooth philtrum, Thin lower lip vermilion, Atrial septa... ORPHA:363444
Van Der Woude Syndrome
Cleft upper lip, Lip pit, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa... ORPHA:888
Aneurysm, Intracranial Berry, 1
Dilatation of the cerebral artery, Intracranial hemorrhage OMIM:105800
Oculodentodigital Dysplasia
Underdeveloped nasal alae, Enamel hypoplasia, Cleft upper lip, High palate, Selective tooth agene... OMIM:164200
Aneurysm, Intracranial Berry, 2
Cerebral berry aneurysm, Subarachnoid hemorrhage OMIM:608542
3Mc Syndrome 1
Patent ductus arteriosus, Cleft upper lip, Diastasis recti, Ventricular septal defect, Dental cro... OMIM:257920
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Wide nasal bridge, Delayed eruption of teeth, Pericardial effusion, Thyroid lymphangiectasia, Cam... OMIM:235510
Lowry-Maclean Syndrome
Midgut malrotation, Atrioventricular canal defect, Talon cusp, Retrognathia, Convex nasal ridge, ... ORPHA:2409
Holoprosencephaly 9
Dental malocclusion, Agenesis of incisor, Cleft upper lip, Single naris, Anophthalmia, Hypoplasia... OMIM:610829
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Long philtrum, Omphalocele, Ventricular septal defect, Depressed nasal bridge OMIM:617895
Constricting Bands, Congenital
Cleft upper lip, Gastroschisis, Ectopia cordis, Bladder exstrophy, Cleft palate, Omphalocele OMIM:217100
Mullegama-Klein-Martinez Syndrome
Prominent nose, Long philtrum, Abnormal cardiac septum morphology, Wide nasal bridge, Micrognathi... OMIM:301022
Band Heterotopia
Macrocephaly, Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:600348
Chromosome 6Pter-P24 Deletion Syndrome
Patent ductus arteriosus, Patent foramen ovale, Cleft upper lip, High palate, Ventricular septal ... OMIM:612582
Bartsocas-Papas Syndrome
Underdeveloped nasal alae, Renal hypoplasia/aplasia, Micrognathia, Median cleft lip, Short nose, ... ORPHA:1234
Proboscis Lateralis
Patent ductus arteriosus, Ureteral agenesis, Abnormal paranasal sinus morphology, Single naris, H... ORPHA:141099
Mesomelia-Synostoses Syndrome
Hydronephrosis, Convex nasal ridge, Long philtrum, Micrognathia, Abnormal oral frenulum morpholog... ORPHA:2496
Cerebral Cavernous Malformations
Intracranial hemorrhage, Cerebral cavernous malformation OMIM:116860
Simpson-Golabi-Behmel Syndrome
Camptodactyly of finger, Wide nasal bridge, Cleft palate, Nephroblastoma, Aplasia/Hypoplasia of t... ORPHA:373
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus, Microcephaly OMIM:619470
Cerebrooculonasal Syndrome
Narrow palate, Anophthalmia, High palate, Long philtrum, Proboscis, Optic nerve hypoplasia, Short... OMIM:605627
Holoprosencephaly 5
Syntelencephaly, Lateral ventricle dilatation, Hydrocephalus, Semilobar holoprosencephaly, Lobar ... OMIM:609637
Pallister-Hall Syndrome
Renal dysplasia, Cleft palate, Preductal coarctation of the aorta, Choanal atresia, Ventricular s... OMIM:146510
Distal 7Q11.23 Microduplication Syndrome
Patent ductus arteriosus, Hydrocephalus, Frontal encephalocele, Aortic aneurysm ORPHA:261102
Methylmalonate Semialdehyde Dehydrogenase Deficiency
High palate, Long philtrum, Elevated urinary aminoisobutyric acid, Elevated urinary 3-hydroxybuty... OMIM:614105
Kleeblattschaedel
Hydrocephalus OMIM:148800
Achondrogenesis
Long philtrum, Micrognathia, Short nose, Inguinal hernia, Anteverted nares, Umbilical hernia ORPHA:932
Familial Cervical Artery Dissection
Cerebral ischemia, Transient ischemic attack, Arterial fibromuscular dysplasia, Hypertension, Str... ORPHA:36382
Holoprosencephaly 3
Single naris, Proboscis, Bifid uvula, Solitary median maxillary central incisor, Short columella,... OMIM:142945
Iminoglycinuria
Prolinuria, Hyperglycinuria, Hydroxyprolinuria OMIM:242600
Nager Syndrome
Non-midline cleft lip, Wide mouth, Abnormal nasal morphology, Micrognathia, Unilateral renal agen... ORPHA:245
Aminopterin/Methotrexate Embryofetopathy
Non-midline cleft lip, Mandibular prognathia, Ventricular septal defect, Wide nasal bridge, Micro... ORPHA:1908
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Patent foramen ovale, Mandibular prognathia, High palate, Ventricular septal defect, Wide mouth, ... ORPHA:369891
Acrorenal Syndrome
Renal hypoplasia/aplasia, Micrognathia, Cleft palate, Renal insufficiency, Abnormal renal morphology ORPHA:971
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Abnormally large globe, High palate, Ventricular septal defect, Micrognathia, Pulmonary lymphangi... ORPHA:1655
Global Developmental Delay With Or Without Impaired Intellectual Development
Patent ductus arteriosus, Ventricular septal defect, Oligodontia, Atrial septal defect, Thin uppe... OMIM:618330
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Patent ductus arteriosus, Double outlet right ventricle, Unbalanced atrioventricular canal defect... OMIM:619657
Tarp Syndrome
High palate, Wide nasal bridge, Tongue nodules, Micrognathia, Horseshoe kidney, Anteverted nares,... OMIM:311900
Bardet-Biedl Syndrome 4
Renal cyst, Abnormality of the kidney, Abnormality of the dentition OMIM:615982
Orofaciodigital Syndrome V
Lobulated tongue, Bifid tongue, Ventricular septal defect, High palate, Hypodontia, Aganglionic m... OMIM:174300
Johanson-Blizzard Syndrome
Underdeveloped nasal alae, Hydronephrosis, Abnormal nostril morphology, Abnormal cardiac septum m... ORPHA:2315
Lambert Syndrome
Inguinal hernia, Hypospadias, Malar flattening, Wide mouth OMIM:245550
Nabais Sa-De Vries Syndrome, Type 2
Multicystic kidney dysplasia, High palate, Prominent nose, Micrognathia, Hypoplastic left heart, ... OMIM:618829
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Deep philtrum, Thick lower lip vermilion, Short nose, Hypertrophic cardiomyopathy, Abnormal palat... ORPHA:2701
Ohdo Syndrome
Long philtrum, Wide nasal bridge, Widely spaced teeth, Micrognathia, Short nose, Depressed nasal ... OMIM:249620
Thakker-Donnai Syndrome
Ventricular septal defect, Rectovaginal fistula, Anal atresia, Tracheoesophageal fistula, Congeni... ORPHA:1780
Heterotaxy, Visceral, 6, Autosomal
Double outlet right ventricle, Unbalanced atrioventricular canal defect, Hypoplastic left heart, ... OMIM:614779
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Cleft upper lip, Ventricular septal defect, Perimembranous ventricular septal defect, Secundum at... OMIM:600987
Hydrocephaly-Low Insertion Umbilicus Syndrome
Patent ductus arteriosus, Wide nose, Hernia of the abdominal wall, Anomalous pulmonary venous ret... ORPHA:2184
3Mc Syndrome 2
Partial abdominal muscle agenesis, Diastasis recti, Cleft upper lip, High palate, Wide nasal brid... OMIM:265050
Frontofacionasal Dysplasia
Non-midline cleft lip, Depressed nasal ridge, Short nose, Dimple on nasal tip, Depressed nasal br... ORPHA:1791
Yuan-Harel-Lupski Syndrome
Aortic root aneurysm, Double outlet right ventricle, Wide nose, High palate, Ventricular septal d... OMIM:616652
Iminoglycinuria
Prolinuria, Hyperglycinuria, Hydroxyprolinuria ORPHA:42062
Autosomal Recessive Robinow Syndrome
Camptodactyly of finger, Bifid tongue, Ectopic anus, Wide nasal bridge, Micrognathia, Gingival ov... ORPHA:1507
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Cleft upper lip, Hyposmia, Tooth agenesis, Anosmia, Cleft palate, Micropenis, Choanal atresia OMIM:147950
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Patent ductus arteriosus, Retrognathia, High palate, Ventricular septal defect, Crossed fused ren... OMIM:618142
Congenital Factor V Deficiency
Persistent bleeding after trauma, Post-partum hemorrhage, Hematuria, Intracranial hemorrhage, Bru... ORPHA:326
Craniotelencephalic Dysplasia
Arrhinencephaly, Hydrocephalus, Frontal encephalocele, Microcephaly ORPHA:1528
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Ectopic kidney, Cystic renal dysplasia, Microphthalmia, Ventricular septal defect OMIM:613730
Threoninemia
Hyperthreoninuria, Growth delay OMIM:273770
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly, Lateral ventricle dilatation, Mac... OMIM:618291
Joubert Syndrome 14
Ventricular septal defect, Short philtrum, Intracranial hemorrhage, Renal cyst, Tented upper lip ... OMIM:614424
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Patent ductus arteriosus, Anal stenosis, Vesicoureteral reflux, High palate, Long philtrum, Renal... OMIM:614080
Kallmann Syndrome-Heart Disease Syndrome
Midgut malrotation, Double outlet right ventricle, Total anosmia, Short lingual frenulum, Renal a... ORPHA:2326
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypoplasia of penis, Anal atresia, Abnormal palate morphology, Hypospadias, Tetralogy of Fallot, ... ORPHA:1381
Scimitar Syndrome
Truncus arteriosus, Abnormal vena cava morphology, Double outlet right ventricle, Ventricular sep... ORPHA:185
8P23.1 Microdeletion Syndrome
Patent ductus arteriosus, Atrioventricular canal defect, Abnormal aortic morphology, High palate,... ORPHA:251071
Lethal Congenital Contracture Syndrome 2
Ventricular septal defect, Micrognathia, Dilated cardiomyopathy, Arthrogryposis multiplex congeni... OMIM:607598
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Reduced renal corti... OMIM:617610
Stickler Syndrome Type 1
Long philtrum, Mitral valve prolapse, Short nose, Hypoplasia of the maxilla, Cleft palate ORPHA:90653
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Intestinal malrotation, Congenital diaphragmatic hernia, Omphalocele, Anteverted nares OMIM:601163
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Retrognathia, Vesicoureteral reflux, Micrognathia, Cleft palate, Arthrogryposis multiplex congeni... OMIM:618265
46,Xy Sex Reversal 4
High palate, Long philtrum, Prominent nose, Renal dysplasia, Depressed nasal ridge, Micrognathia,... OMIM:154230
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
High palate, Pierre-Robin sequence, Wide nasal bridge, Micrognathia, Camptodactyly, Bulbous nose,... OMIM:613604
Acrocardiofacial Syndrome
Camptodactyly of finger, Cleft upper lip, Truncus arteriosus, Ventricular septal defect, Wide nas... ORPHA:2008
Williams-Beuren Region Duplication Syndrome
Patent ductus arteriosus, High palate, Micrognathia, Short philtrum, Unilateral renal agenesis, D... OMIM:609757
Smith-Magenis Syndrome
Cleft upper lip, Mandibular prognathia, Delayed eruption of primary teeth, Wide nasal bridge, Ren... ORPHA:819
Congenital Heart Defects And Skeletal Malformations Syndrome
Aortic root aneurysm, Narrow maxilla, High palate, Ventricular septal defect, Camptodactyly, Anal... OMIM:617602
Distal Tetrasomy 15Q
Patent ductus arteriosus, Nephroblastoma, Retrognathia, Flexion contracture, Hernia, High palate,... ORPHA:314588
Carey-Fineman-Ziter Syndrome
Aplasia/Hypoplasia of the tongue, Pierre-Robin sequence, High palate, Long philtrum, Micrognathia... ORPHA:1358
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Patent ductus arteriosus, Congenital shortened small intestine, Pyloric stenosis, Increased size ... OMIM:300048
Basel-Vanagaite-Smirin-Yosef Syndrome
Retrognathia, Mandibular prognathia, Ventricular septal defect, Left superior vena cava draining ... ORPHA:464738
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Nephroblastoma, Hernia, Ventricular septal defect, Depressed nasal bridge, Microphthalmia, Smooth... OMIM:602501
Galloway-Mowat Syndrome 7
Renal tubular atrophy, IgA deposition in the glomerulus, High palate, Ventricular septal defect, ... OMIM:618348
Filippi Syndrome
Underdeveloped nasal alae, Ventricular septal defect, Wide nasal bridge, Hypodontia, Microdontia,... OMIM:272440
Hanac Syndrome
Renal insufficiency, Hematuria, Multiple renal cysts ORPHA:73229
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Camptodactyly of finger, Mandibular prognathia, Anophthalmia, Long philtrum, Aniridia, Tricuspid ... ORPHA:1101
Juberg-Hayward Syndrome
Anteriorly placed anus, Cleft upper lip, Horseshoe kidney OMIM:216100
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Multicystic kidney dysplasia, Microcolon, Hydroureter, Neoplasm of the heart, Intestinal malrotat... ORPHA:2241
Peroxisome Biogenesis Disorder 6A (Zellweger)
Renal cyst, Wide nasal bridge OMIM:614870
Meckel Syndrome, Type 4
Ventricular septal defect, Atrial septal defect, Renal cyst, Microphthalmia, Cleft palate OMIM:611134
Kury-Isidor Syndrome
High palate, Long philtrum, Ventricular septal defect, Widely spaced teeth, Anteverted nares, Tri... OMIM:619762
Hemifacial Microsomia With Radial Defects
Non-midline cleft lip, Short mandibular rami, Cleft palate, Orofacial cleft OMIM:141400
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Hydronephrosis, Ventricular septal defect, Joint contracture of the hand, Widely spaced teeth, Th... OMIM:280000
9q subtelomeric deletion syndrome
Protruding tongue, Abnormal heart morphology, Anteverted nares, Short nose DECIPHER:52
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Hydronephrosis, Mandibular prognathia, Ventricular septal defect, Perimembranous ventricular sept... OMIM:301040
Encephalopathy Due To Sulfite Oxidase Deficiency
Aminoaciduria, Short nose, Long philtrum, Thick vermilion border ORPHA:833
Congenital Hydrocephalus
Macrocephaly, Hydrocephalus, Ventriculomegaly, Colpocephaly ORPHA:2185
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Retrognathia, Double outlet right ventricle, Vesicoureteral reflux, Ventricular septal defect, Pu... OMIM:301056
Congenital Anomalies Of Kidney And Urinary Tract 2
Congenital megaureter, Renal dysplasia, Hydroureter, Ureteropelvic junction obstruction, Renal hy... OMIM:143400
16P13.11 Microdeletion Syndrome
Camptodactyly of finger, Cleft upper lip, Ventricular septal defect, Wide mouth, Atrial septal de... ORPHA:261236
Parietal Foramina 1
Cleft palate, Cleft upper lip OMIM:168500
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Mandibular prognathia, Deep philtrum, Bilateral cleft lip, Bifid uvula, Short philtrum, Thin uppe... OMIM:618622
Acquired Aneurysmal Subarachnoid Hemorrhage
Abnormal cerebral artery morphology, Ischemic stroke, Cerebral hemorrhage, Cerebral ischemia, Hyp... ORPHA:90065
Edinburgh Malformation Syndrome
Aplasia/Hypoplasia affecting the eye, Micrognathia, Short nose, Downturned corners of mouth, Narr... ORPHA:1895
Split-Hand/Foot Malformation 3
High palate, Camptodactyly, Microretrognathia, Hypoplasia of the maxilla, Narrow mouth, Renal hyp... OMIM:246560
Fibrochondrogenesis 1
Patent foramen ovale, Long philtrum, Joint contracture of the hand, Camptodactyly, Short nose, De... OMIM:228520
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
Aortic Valve Disease 1
Double outlet right ventricle, Mitral atresia, Ventricular septal defect, Mitral stenosis, Bicusp... OMIM:109730
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Diastasis recti, Ventricular septal defect, Abnormal heart morphology, Omphalocele, Umbilical hernia ORPHA:254534
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Lysine Malabsorption Syndrome
Renal tubular lysine transport defect, Hyperlysinuria, Growth delay OMIM:247950
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
High palate, Pierre-Robin sequence, Long philtrum, Perimembranous ventricular septal defect, Shor... OMIM:617877
Distal Trisomy 18Q
Camptodactyly of finger, High palate, Micrognathia, Abnormality of dental morphology, Hypoplasia ... ORPHA:1716
Lissencephaly 5
Occipital encephalocele, Hydrocephalus, Macrocephaly OMIM:615191
Cystinuria
Hyperlysinuria, Recurrent urinary tract infections, Ornithinuria, Cystinuria, Argininuria, Renal ... OMIM:220100
Microphthalmia, Syndromic 2
Flexion contracture, Delayed eruption of teeth, Bifid uvula, Contracture of the proximal interpha... OMIM:300166
Heterotaxy, Visceral, 12, Autosomal
Patent foramen ovale, Double outlet right ventricle, Ventricular septal defect, Left superior ven... OMIM:619702
Macdermot-Winter Syndrome
Camptodactyly of finger, Hydronephrosis OMIM:247990
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia, Vascular dilatation, Wide nasal bridge OMIM:614859
Aicardi-Goutieres Syndrome 4
Ventriculomegaly, Hydrocephalus, CSF lymphocytic pleiocytosis, Progressive microcephaly, Intraute... OMIM:610333
Developmental And Epileptic Encephalopathy 89
Flexion contracture, Long philtrum, Wide nasal bridge, Microretrognathia, Thin upper lip vermilio... OMIM:619124
Gómez-López-Hernández Syndrome
Hydrocephalus, Short stature ORPHA:1532
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Ureteral agenesis, Choanal stenosis, Narrow nasal ridge, Renal dysplasia, Microretrognathia, Rena... OMIM:236500
8P Inverted Duplication/Deletion Syndrome
Retrognathia, Contractures of the large joints, Long philtrum, Wide mouth, Wide nasal bridge, Mic... ORPHA:96092
Developmental And Epileptic Encephalopathy 73
Inguinal hernia, Narrow nasal bridge, Flexion contracture, Short nose OMIM:618379
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Retrognathia, Flexion contracture, Mandibular prognathia, Abnormality of the kidney, Prominent na... ORPHA:391372
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Camptodactyly of finger, Micrognathia, Short nose, Abnormal palate morphology, Narrow mouth ORPHA:1495
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Retrognathia, Wide mouth, Secundum atrial septal defect, Absence of renal corticomedullary differ... OMIM:619758
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Aortic valve stenosis, Secondary microcephaly, Hydrocephalus, Microcephaly OMIM:615599
Robinow Syndrome
Marked delay in eruption of permanent teeth, Bifid tongue, Micrognathia, Gingival overgrowth, Oro... ORPHA:97360
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Microdontia, Micrognathia, Atrial septal defect, Short nose, Narrow mouth, Delayed eruption of pe... OMIM:619356
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Patent ductus arteriosus, Short stature, Hydrocephalus, Macrocephaly, Umbilical hernia ORPHA:1516
Multiple Pterygium Syndrome, X-Linked
Cleft upper lip, Flexion contracture, Depressed nasal ridge, Micrognathia, Cleft palate, Hypoplas... OMIM:312150
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Abnormal palate morphology, Long philtrum, Microretrognathia, Short nose ORPHA:1389
Craniosynostosis, Herrmann-Opitz Type
Convex nasal ridge, Micrognathia, Abnormality of the upper urinary tract, Short nose, Malar flatt... ORPHA:2145
Codas Syndrome
Ventricular septal defect, Delayed eruption of teeth, Hydroureter, Abnormality of dental morpholo... ORPHA:1458
Partial Atrioventricular Septal Defect
Patent ductus arteriosus, Double outlet right ventricle, Partial atrioventricular canal defect, B... ORPHA:1330
Intellectual Developmental Disorder, X-Linked 21
Mandibular prognathia, Dental crowding, Short nose, Tented upper lip vermilion, Open mouth OMIM:300143
Periventricular Nodular Heterotopia 7
Knee flexion contracture, Pierre-Robin sequence, Ventricular septal defect, Micrognathia, Dental ... OMIM:617201
Cornelia De Lange Syndrome 1
Delayed eruption of teeth, Micrognathia, Elbow flexion contracture, Reduced renal corticomedullar... OMIM:122470
Polysyndactyly With Cardiac Malformation
Ventricular septal defect, Atrial septal defect, Renal cyst, Anteverted nares, Hepatic cysts OMIM:263630
Intellectual Developmental Disorder, Autosomal Recessive 73
Patent ductus arteriosus, Thick upper lip vermilion, Ventricular septal defect, Deep philtrum, Wi... OMIM:619717
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Patent foramen ovale, High palate, Long philtrum, Mitral valve prolapse, Atrophic scars, Camptoda... OMIM:615539
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus ORPHA:352682
Biemond Syndrome Type 2
Delayed puberty, Hydrocephalus, Hypospadias, Short stature ORPHA:141333
Otopalatodigital Syndrome, Type I
Wide nasal bridge, Selective tooth agenesis, Short nose, Absent frontal sinuses, Narrow mouth, Mu... OMIM:311300
Matthew-Wood Syndrome
Vesicoureteral reflux, Anophthalmia, Duodenal stenosis, Congenital diaphragmatic hernia, Micropht... ORPHA:2470
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Patent ductus arteriosus, Restrictive cardiomyopathy, High palate, Long philtrum, Deep philtrum, ... OMIM:615398
Orofaciodigital Syndrome I
Bifid tongue, Wide nasal bridge, Median cleft lip, Alveolar ridge overgrowth, Ovarian cyst, Cleft... OMIM:311200
Microform Holoprosencephaly
Renal agenesis, Short philtrum, Duodenal atresia, Hypoplasia of penis, Choanal atresia, Short nos... ORPHA:280200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Ventriculomegaly OMIM:614830
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria
Alpha-aminoadipic aciduria, 2-hydroxyadipic aciduria, Microcephaly OMIM:204750
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macrocephaly, Hydrocephalus, Congestive heart failure OMIM:300886
Joubert Syndrome 37
Wide nose, High palate, Wide nasal bridge, Microphthalmia, Anteverted nares, Micropenis, Hydronep... OMIM:619185
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal tubular atrophy, Aminoaciduria, Proximal tubulopathy, Hyposthenuria, Short stature, Beta 2-... OMIM:308990
C Syndrome
Aplasia/Hypoplasia of the abdominal wall musculature, Multicystic kidney dysplasia, High palate, ... ORPHA:1308
Alexander Disease
Progressive macrocephaly, Hydrocephalus, Increased CSF protein concentration OMIM:203450
Coffin-Siris Syndrome 3
Wide nose, Central diaphragmatic hernia, High palate, Long philtrum, Wide mouth, Macroglossia, In... OMIM:614608
Fibronectin Glomerulopathy
Glomerulopathy, Renal insufficiency, Cerebral hemorrhage, Nephrotic syndrome, Hypertension, Abnor... ORPHA:84090
Tetrasomy 12P
Thick upper lip vermilion, Long philtrum, Delayed eruption of teeth, Anal atresia, Short nose, Ev... ORPHA:884
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Cleft upper lip, Wide nasal bridge, Hypodontia, Abnormality of dental morphology, Anodontia, Micr... ORPHA:3253
Lymphedema-Distichiasis Syndrome
Patent ductus arteriosus, Cleft upper lip, Ventricular septal defect, Cellulitis, Micrognathia, M... OMIM:153400
Bor Syndrome
Retrognathia, Vesicoureteral reflux, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Uret... ORPHA:107
Hyperprolinemia Type 1
Prolinuria, Nephropathy, Proteinuria ORPHA:419
Serkal Syndrome
Hypoplasia of the bladder, Ventricular septal defect, Malrotation of small bowel, Renal agenesis,... ORPHA:139466
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Patent ductus arteriosus, Widely spaced teeth, Thick lower lip vermilion, Delayed eruption of tee... OMIM:619797
Trisomy 20P
Camptodactyly of finger, Ectopic anus, Microdontia, Micrognathia, Everted lower lip vermilion, Ab... ORPHA:261318
Hydrolethalus Syndrome 2
Anencephaly, Hydrocephalus, Ventriculomegaly OMIM:614120
Hsd10 Disease
Ventriculomegaly, Elevated urinary 3-hydroxybutyric acid, Microcephaly, Abnormal urinary acylglyc... ORPHA:391417
Rapp-Hodgkin Syndrome
Conical tooth, Enamel hypoplasia, Cleft upper lip, Underdeveloped nasal alae, Microdontia, Hypodo... OMIM:129400
Prune Belly Syndrome
Patent ductus arteriosus, Congenital posterior urethral valve, Hydroureter, Anal atresia, Prune b... OMIM:100100
Aarskog-Scott Syndrome
Cleft upper lip, Wide nasal bridge, Hypodontia, Short nose, Prominent umbilicus, Inguinal hernia,... OMIM:305400
Chung-Jansen Syndrome
High palate, Long philtrum, Micrognathia, Short philtrum, Short nose, Anteverted nares, Thin verm... OMIM:617991
Fetal Akinesia Deformation Sequence 2
Flexion contracture, High palate, Wide nasal bridge, Micrognathia, Tented upper lip vermilion, Cl... OMIM:618388
Cockayne Syndrome Type 2
Enamel hypoplasia, Flexion contracture, Mandibular prognathia, Anophthalmia, Delayed eruption of ... ORPHA:90322
Posterior Urethral Valve
Retrognathia, Vesicoureteral reflux, Hydronephrosis, Urinary incontinence, Enuresis nocturna, Uri... ORPHA:93110
Image Syndrome
Hypospadias, Depressed nasal bridge, Hydronephrosis ORPHA:85173
Short-Rib Thoracic Dysplasia 12
Patent ductus arteriosus, Patent foramen ovale, Lobulated tongue, Ventricular septal defect, Nata... OMIM:269860
Congenital Factor Ii Deficiency
Joint hemorrhage, Post-partum hemorrhage, Abnormal umbilical stump bleeding, Abnormal bleeding, I... ORPHA:325
Takenouchi-Kosaki Syndrome
Patent ductus arteriosus, Dental malocclusion, Long philtrum, Abnormal cardiac septum morphology,... OMIM:616737
Nephronophthisis 14
Nephronophthisis, Polycystic kidney dysplasia, Situs inversus totalis OMIM:614844
Waardenburg Syndrome Type 1
Underdeveloped nasal alae, Cleft upper lip, Mandibular prognathia, Wide nasal bridge, Aganglionic... ORPHA:894
Acromicric Dysplasia
Long philtrum, Thick lower lip vermilion, Short nose, Narrow mouth, Anteverted nares, Bulbous nose ORPHA:969
Bohring-Opitz Syndrome
Retrognathia, Vesicoureteral reflux, Cleft upper lip, Flexion contracture, Narrow palate, Ventric... OMIM:605039
Mosaic Variegated Aneuploidy Syndrome 3
Nephroblastoma, Convex nasal ridge, Horseshoe kidney, Cleft palate, Arthrogryposis multiplex cong... OMIM:617598
Robinow Syndrome, Autosomal Dominant 2
Dental malocclusion, Cleft soft palate, Long philtrum, Wide mouth, Calvarial osteosclerosis, Micr... OMIM:616331
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Patent ductus arteriosus, Cleft upper lip, Ventricular septal defect, Coarctation of aorta, Hypos... OMIM:600460
10Q22.3Q23.3 Microduplication Syndrome
Abnormality of the philtrum, Microretrognathia, Hypospadias, Tetralogy of Fallot, Abnormality of ... ORPHA:276422
Chromosome 19Q13.11 Deletion Syndrome, Distal
Retrognathia, Underdeveloped nasal alae, Abnormal cardiac septum morphology, Wide nasal bridge, R... OMIM:613026
Glycosylphosphatidylinositol Biosynthesis Defect 11
High palate, Wide nasal bridge, Macroglossia, Inguinal hernia, Tented upper lip vermilion, Umbili... OMIM:616025
Peroxisome Biogenesis Disorder 12A (Zellweger)
Patent ductus arteriosus, Double outlet right ventricle, Prominent nose, Wide nasal bridge, Promi... OMIM:614886
Orofaciodigital Syndrome Ix
High palate, Camptodactyly, Median cleft lip, Broad nasal tip, Bifid nasal tip, Accessory oral fr... OMIM:258865
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Cleft mandible, Underdeveloped nasal alae, Pierre-Robin sequence, Prominence of the zygomatic bon... ORPHA:364577
Moderate Hemophilia A
Subcutaneous hemorrhage, Epidural hemorrhage, Hematuria, Intracranial hemorrhage, Abnormal bleedi... ORPHA:169805
German Syndrome
Camptodactyly of finger, High palate, Abnormal cardiac septum morphology, Wide nasal bridge, Micr... ORPHA:2077
Glanzmann Thrombasthenia 1
Purpura, Intracranial hemorrhage, Bruising susceptibility, Ecchymosis, Epistaxis, Subdural hemorr... OMIM:273800
Glutaryl-Coa Dehydrogenase Deficiency
Retinal hemorrhage, Ventriculomegaly, Increased head circumference, Communicating hydrocephalus, ... ORPHA:25
Achondrogenesis Type 1B
Femoral hernia, Long philtrum, Micrognathia, Short nose, Anteverted nares, Umbilical hernia ORPHA:93298
Microgastria-Limb Reduction Defect Syndrome
Multicystic kidney dysplasia, Crossed fused renal ectopia, Truncus arteriosus, Anophthalmia, Esop... ORPHA:2538
Fanconi Anemia, Complementation Group O
Stage 5 chronic kidney disease, Anal atresia, Renal cyst, Abnormal heart morphology, Rectal atres... OMIM:613390
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Patent ductus arteriosus, Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic val... ORPHA:284169
Dent Disease 2
Aminoaciduria, Proximal tubulopathy, Short stature, Low-molecular-weight proteinuria, Umbilical h... OMIM:300555
Dandy-Walker Malformation With Postaxial Polydactyly
Patent ductus arteriosus, Dilated fourth ventricle, Vascular dilatation, Macrocephaly, Hydrocepha... OMIM:220220
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Congenital diaphragmatic hernia, Omphalocele ORPHA:2141
Faciocardiorenal Syndrome
Underdeveloped nasal alae, Wide nasal bridge, Hypodontia, Narrow mouth, Horseshoe kidney, Smooth ... ORPHA:1973
Braddock-Carey Syndrome 2
Retrognathia, Pierre-Robin sequence, Wide mouth, Microphthalmia, Cleft palate, Bulbous nose OMIM:619981
Fraser Syndrome
Bifid tongue, Midline nasal groove, Ectopic anus, Wide nasal bridge, Orofacial cleft, Multicystic... ORPHA:2052
Hyperprolinemia, Type I
Prolinuria, Hydroxyprolinuria, Hyperglycinuria OMIM:239500
Immunodeficiency, Common Variable, 6
Nephrotic range proteinuria, Stage 5 chronic kidney disease, Enlarged kidney, Mesangial Immune co... OMIM:613496
Congenital Disorder Of Glycosylation, Type Il
Long philtrum, Wide mouth, Abnormal cardiac septum morphology, Pericardial effusion, Polycystic k... OMIM:608776
Micro Syndrome
High palate, Wide nasal bridge, Micrognathia, Short philtrum, Hypoplasia of penis, Short nose, Ab... ORPHA:2510
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Wide nasal bridge, Short nose, Broad nasal tip, Tented upper lip vermilion, Cleft palate OMIM:614207
Peho-Like Syndrome
Retrognathia, Open mouth, Short nose OMIM:617507
Genitopatellar Syndrome
Knee flexion contracture, Wide nose, Multicystic kidney dysplasia, Hip contracture, Long philtrum... ORPHA:85201
Acrofrontofacionasal Dysostosis
Camptodactyly of finger, Non-midline cleft lip, High palate, Everted lower lip vermilion, Dimple ... ORPHA:1784
Baller-Gerold Syndrome
Vesicoureteral reflux, High palate, Abnormal cardiac septum morphology, Malabsorption, Micrognath... ORPHA:1225
Meckel Syndrome, Type 1
Camptodactyly of finger, Hypoplasia of the bladder, Abnormal cardiac septum morphology, Micrognat... OMIM:249000
Musculocontractural Ehlers-Danlos Syndrome
Hydronephrosis, High palate, Long philtrum, Malrotation of small bowel, Atrophic scars, Prominent... ORPHA:2953
Distal Trisomy 5Q
Hernia, Ventricular septal defect, Long philtrum, Micrognathia, Short nose, Hypospadias, Narrow m... ORPHA:96097
Fried Syndrome
Hydrocephalus ORPHA:85335
Gracile Syndrome
Aminoaciduria, Intrauterine growth retardation OMIM:603358
Autosomal Dominant Omodysplasia
Long philtrum, Micrognathia, Hypoplasia of penis, Short nose, Depressed nasal bridge, Malar flatt... ORPHA:93328
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Patent ductus arteriosus, Retrognathia, High palate, Wide nasal bridge, Atrial septal defect, Sho... OMIM:618005
Radius, Aplasia Of, With Cleft Lip/Palate
Cleft palate, Cleft upper lip OMIM:179400
Koolen-De Vries Syndrome
Aortic root aneurysm, Patent ductus arteriosus, Cleft upper lip, Vesicoureteral reflux, Narrow pa... OMIM:610443
Heterotaxy, Visceral, 8, Autosomal
Double outlet right ventricle, Unbalanced atrioventricular canal defect, Ventricular septal defec... OMIM:617205
Eng-Strom Syndrome
Camptodactyly of finger, Ventricular septal defect, Abnormal cardiac septum morphology ORPHA:1937
Mosaic Trisomy 9
Camptodactyly of finger, Patent ductus arteriosus, Hydronephrosis, High palate, Ventricular septa... ORPHA:99776
Renal Hypoplasia
Vesicoureteral reflux, Abnormal renal cortex morphology, Hydronephrosis, Renal insufficiency, Rec... ORPHA:93101
Cardiac Valvular Dysplasia 1
Hypoplasia of right ventricle, Patent foramen ovale, Left aortic arch with cervical origin of the... OMIM:212093
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Patent ductus arteriosus, High palate, Wide nasal bridge, Mitral valve prolapse, Ureteral triplic... OMIM:104350
Neurooculocardiogenitourinary Syndrome
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, ... OMIM:618652
Microphthalmia, Syndromic 5
Anophthalmia, Optic nerve hypoplasia, Microphthalmia, Cleft palate, Micropenis OMIM:610125
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Circumvallate Placenta Syndrome
Intracranial hemorrhage OMIM:215550
Vertebral Hypersegmentation And Orofacial Anomalies
Micrognathia, Submucous cleft hard palate, Inguinal hernia, Anteverted nares, Unilateral cleft pa... OMIM:619122
Congenital Toxoplasmosis
Hydrocephalus, Ventriculomegaly, Microcephaly, Intrauterine growth retardation ORPHA:858
Omodysplasia 2
Long philtrum, Wide nasal bridge, Bilateral cleft lip, Micrognathia, Tented upper lip vermilion, ... OMIM:164745
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Patent ductus arteriosus, Retrognathia, High palate, Ventricular septal defect, Long philtrum, Wi... OMIM:617061
Achondrogenesis Type 1A
Femoral hernia, Long philtrum, Micrognathia, Short nose, Anteverted nares, Umbilical hernia ORPHA:93299
Frank-Ter Haar Syndrome
Patent foramen ovale, Abnormally large globe, Double outlet right ventricle, Dental malocclusion,... OMIM:249420
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus, Microcephaly OMIM:304100
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Wide mouth, Micrognathia, Short nose, Thin upper lip vermilion, Smooth philtrum, Slender nose, Jo... OMIM:615419
Axenfeld-Rieger Syndrome, Type 2
Mandibular prognathia, Wide nasal bridge, Microdontia, Hypodontia, Short philtrum, Everted lower ... OMIM:601499
Emanuel Syndrome
Truncus arteriosus, Micrognathia, Recurrent sinusitis, Cleft palate, Broad jaw, Ventricular septa... OMIM:609029
2,4-Dienoyl-Coa Reductase Deficiency
Hyperlysinuria, Increased CSF lysine concentration, Ventriculomegaly, Microcephaly, Increased CSF... OMIM:616034
Congenital Alveolar Capillary Dysplasia
Patent ductus arteriosus, Atrioventricular canal defect, Pulmonary valve atresia, Ventricular sep... ORPHA:210122
Severe Hemophilia A
Persistent bleeding after trauma, Epidural hemorrhage, Intracranial hemorrhage, Bruising suscepti... ORPHA:169802
Stromme Syndrome
Jejunal atresia, Wide mouth, Wide nasal bridge, Micrognathia, Optic nerve hypoplasia, Intestinal ... OMIM:243605
Bartsocas-Papas Syndrome 1
Underdeveloped nasal alae, Patent foramen ovale, Cleft upper lip, Flexion contracture, Micrognath... OMIM:263650
Diaminopentanuria
Hyperlysinuria, Cystinuria OMIM:222350
Chromosome 2P16.1-P15 Deletion Syndrome
Retrognathia, High palate, Long philtrum, Joint contracture of the hand, Wide nasal bridge, Promi... OMIM:612513
Congenital Disorder Of Glycosylation, Type Iu
High palate, Micrognathia, Short nose, Thin upper lip vermilion, Congenital contracture OMIM:615042
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Wide nasal bridge, Short nose, Thin upper lip vermilion, Tented upper lip vermilion, Broad nasal ... OMIM:615716
3P25.3 Microdeletion Syndrome
Knee flexion contracture, Patent ductus arteriosus, Mandibular prognathia, Prominent nose, Ventri... ORPHA:435638
Spinal Muscular Atrophy, Type I
Tongue fasciculations, Ventricular septal defect, Atrial septal defect OMIM:253300
Hydrolethalus Syndrome 1
Ventricular septal defect, Micrognathia, Bifid nose, Median cleft lip, Midline defect of the nose... OMIM:236680
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Wide nose, High palate, Ventricular septal defect, Wide nasal bridge, Low insertion of columella,... OMIM:619995
Primary Angiitis Of The Central Nervous System
Abnormal CSF protein concentration, CSF pleocytosis, Transient ischemic attack, Cerebral vasculit... ORPHA:140989
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Aminoaciduria, Severe short stature ORPHA:2278
Verloove Vanhorick-Brubakk Syndrome
Non-midline cleft lip, Micrognathia, Abnormal localization of kidney, Cleft palate ORPHA:3429
Exstrophy-Epispadias Complex
Absent penis, Renal dysplasia, Bladder fistula, Abnormality of the abdominal wall, Abnormality of... ORPHA:322
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Ventricular septal defect, Long philtrum, Deep philtrum, Wide nasal bridge, Micrognathia, Abnorma... ORPHA:404440
Distal Monosomy 15Q
Bifid tongue, Abnormal cardiac septum morphology, Micrognathia, Abnormal aortic arch morphology, ... ORPHA:1596
Catel-Manzke Syndrome
Cleft upper lip, Pierre-Robin sequence, Ventricular septal defect, High palate, Narrow naris, Mic... OMIM:616145
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Mitral valve pro... ORPHA:371428
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Ischemic stroke, Stress urinary incontinence, Cerebral hemorrhage, Transient ischemic attack, Cer... ORPHA:136
Kleefstra Syndrome Due To 9Q34 Microdeletion
Vesicoureteral reflux, Conotruncal defect, Abnormal cardiac septum morphology, Hypoplasia of peni... ORPHA:96147
Camptodactyly-Taurinuria Syndrome
Aminoaciduria, Increased urinary taurine ORPHA:1325
Heterotaxy, Visceral, 5, Autosomal
Right atrial isomerism, Atrioventricular canal defect, Double outlet right ventricle, Ascending t... OMIM:270100
Zechi-Ceide Syndrome
Wide nose, Mandibular prognathia, Wide nasal bridge, Oligodontia, Short philtrum, Atrial septal d... ORPHA:217017
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
High palate, Long philtrum, Micrognathia, Short nose, Downturned corners of mouth, Depressed nasa... ORPHA:163649
Tatton-Brown-Rahman Syndrome
Vesicoureteral reflux, Everted upper lip vermilion, Ventricular septal defect, Deep philtrum, Atr... OMIM:615879
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Patent ductus arteriosus, Retrognathia, Ventricular septal defect, Bifid uvula, Hypertrophic card... OMIM:612938
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Non-midline cleft lip, Depressed nasal ridge, Absent nasal septal cartilage, Tooth agenesis, Sacr... ORPHA:2003
Mandibulofacial Dysostosis With Alopecia
Delayed eruption of primary teeth, Wide nasal bridge, Bicuspid aortic valve, Hydroureter, Microgn... OMIM:616367
Primary Ciliary Dyskinesia
Double outlet right ventricle, Nasal congestion, Atrial situs ambiguous, Chronic sinusitis, Nasal... ORPHA:244
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Mandibular prognathia, Narrow nasal bridge, Shagreen patch, Abnormal zygomatic bone morphology, M... ORPHA:2511
Reversible Cerebral Vasoconstriction Syndrome
Abnormal cerebral artery morphology, Ischemic stroke, Cerebral hemorrhage, Transient ischemic att... ORPHA:284388
Orofaciodigital Syndrome Type 1
Lip pit, Wide nasal bridge, Micrognathia, Median cleft lip, Odontogenic neoplasm, Cleft palate, A... ORPHA:2750
Tetraamelia Syndrome 1
Urethral atresia, Cleft upper lip, Single naris, Micrognathia, Gastroschisis, Renal agenesis, Ana... OMIM:273395
Li-Ghorbani-Weisz-Hubshman Syndrome
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect, Downturned corners of ... OMIM:618974
Hepatorenocardiac Degenerative Fibrosis
Renal interstitial fibrosis, Enlarged kidney, Renal cyst, Hypertrophic cardiomyopathy, Reduced re... OMIM:619902
Baker-Gordon Syndrome
Thin upper lip vermilion, Prominent nasal tip, Smooth philtrum, Short nose OMIM:618218
Frank-Ter Haar Syndrome
Camptodactyly of finger, Mandibular prognathia, Wide mouth, Delayed eruption of teeth, Wide nasal... ORPHA:137834
Cardiomyopathy, Dilated, 2G
Right bundle branch block, Cerebral hemorrhage, Severely reduced left ventricular ejection fracti... OMIM:619897
Cloacal Exstrophy
Vesicoureteral reflux, Renal hypoplasia/aplasia, Hydroureter, Hypoplasia of penis, Anal atresia, ... ORPHA:93929
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Non-midline cleft lip, Craniofacial hyperostosis, Cleft palate ORPHA:2725
Treacher-Collins Syndrome
Wide nasal bridge, Micrognathia, Tooth agenesis, Cleft palate, Glossoptosis, Abnormal dental enam... ORPHA:861
Opitz-Kaveggia Syndrome
Multiple joint contractures, Micrognathia, Camptodactyly, Cleft palate, Choanal atresia, Narrow p... OMIM:305450
3-Hydroxyisobutyric Aciduria
Aminoaciduria, Microcephaly OMIM:236795
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Renal cyst OMIM:138790
Oculofaciocardiodental Syndrome
Patent ductus arteriosus, Tooth malposition, Long philtrum, Abnormal cardiac septum morphology, D... ORPHA:2712
Microcephaly 26, Primary, Autosomal Dominant
Patent foramen ovale, Long philtrum, Wide nasal bridge, Prominent nasal bridge, Short nose, Protr... OMIM:619179
Hypertelorism-Microtia-Facial Clefting Syndrome
Crossed fused renal ectopia, Bifid nose, Median cleft lip and palate, Horseshoe kidney, Bifid nas... ORPHA:2213
Cerebral Amyloid Angiopathy, Cst3-Related
Stroke, Intracranial hemorrhage, Cerebral hemorrhage OMIM:105150
Kapur-Toriello Syndrome
Patent ductus arteriosus, Ventricular septal defect, Hypoplasia of penis, Intestinal malrotation,... ORPHA:2328
Joubert Syndrome 35
Multicystic kidney dysplasia, Recurrent urinary tract infections, Depressed nasal bridge, Antever... OMIM:618161
1Q21.1 Microdeletion Syndrome
Patent ductus arteriosus, Vesicoureteral reflux, High palate, Long philtrum, Abnormal cardiac sep... ORPHA:250989
Myhre Syndrome
Mandibular prognathia, Abnormal cardiac septum morphology, Gingival cleft, Abnormal lip morpholog... ORPHA:2588
Frontofacionasal Dysplasia
Underdeveloped nasal alae, Cleft upper lip, Hypoplasia of the frontal bone, Bifid uvula, Bifid no... OMIM:229400
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Enamel hypoplasia, Enterocolitis, Ventricular septal defect, Jejunal atresia, Intestinal malrotat... OMIM:243150
Marden-Walker Syndrome
Camptodactyly of finger, Renal dysplasia, Micrognathia, Bifid uvula, Abnormality of the urinary s... ORPHA:2461
Nephronophthisis 18
Renal tubular atrophy, Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Hydrocephalu... OMIM:615862
Timothy Syndrome
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Microdontia, Thin uppe... OMIM:601005
Cranioacrofacial Syndrome
Pulmonic stenosis, Dupuytren contracture, Ventricular septal defect OMIM:122850
Urofacial Syndrome 2
Vesicoureteral reflux, Recurrent urinary tract infections, Bladder trabeculation, Urinary urgency... OMIM:615112
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Lobulated tongue, Short philtrum, Short nose, Thin upper lip vermilion, Downturned corners of mou... OMIM:613443
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Long philtrum, Wide nasal bridge, Micrognathia, Short nose, Anteverted nares, Broad philtrum OMIM:618577
Intellectual Developmental Disorder, X-Linked 30
Thick upper lip vermilion, High palate, Short nose, Thin upper lip vermilion, Anteverted nares, O... OMIM:300558
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Cleft palate, Abnormal mandible morphology, Arthrogryposis multiplex congenita, Natal tooth OMIM:217150
Cerebellar-Facial-Dental Syndrome
Dental malocclusion, Foot joint contracture, Ascending tubular aorta aneurysm, Ventricular septal... ORPHA:444072
Sneddon Syndrome
Hypertension, Nephropathy, Intracranial hemorrhage, Arterial stenosis ORPHA:820
Pettigrew Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:304340
Mohr Syndrome
Lobulated tongue, Bifid tongue, High palate, Tongue nodules, Micrognathia, Median cleft lip, Hypo... OMIM:252100
Vacterl With Hydrocephalus
Retrognathia, Anophthalmia, Esophageal atresia, Renal hypoplasia/aplasia, Micrognathia, Renal age... ORPHA:3412
Blepharocheilodontic Syndrome 1
Conical tooth, Cleft upper lip, Hypodontia, Anal atresia, Choanal atresia OMIM:119580
Thanatophoric Dysplasia Type 2
Patent ductus arteriosus, Encephalocele, Ventriculomegaly, Short stature, Abnormality of the kidn... ORPHA:93274
Encephalocraniocutaneous Lipomatosis
Subvalvular aortic stenosis, Hydronephrosis, Ventricular septal defect, Hypoplasia of the iris, A... OMIM:613001
Holoprosencephaly 4
Absent nasal septal cartilage, Median cleft lip and palate, Median cleft lip, Depressed nasal bri... OMIM:142946
Velocardiofacial Syndrome
Retrognathia, Underdeveloped nasal alae, Pierre-Robin sequence, Ventricular septal defect, Interr... OMIM:192430
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Underdeveloped nasal alae, High palate, Delayed eruption of teeth, Renal malrotation, Short philt... OMIM:615866
3Q29 Microdeletion Syndrome
Subvalvular aortic stenosis, Patent ductus arteriosus, High palate, Short philtrum, Short nose, E... ORPHA:65286
Marshall-Smith Syndrome
Irregular dentition, Microdontia, Optic nerve hypoplasia, Gingival overgrowth, Glossoptosis, Choa... OMIM:602535
Familial Cerebral Saccular Aneurysm
Aortic root aneurysm, Transient ischemic attack, Atherosclerosis, Intracranial hemorrhage, Hypert... ORPHA:231160
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Bresek Syndrome
Vesicoureteral reflux, Hypoplasia of the bladder, Renal dysplasia, Hydrocephalus, Growth delay, M... ORPHA:85284
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Aminoaciduria, Ventriculomegaly, Short stature, Microcephaly, Methylmalonic aciduria ORPHA:1933
Acrocephalopolydactyly
Abnormal renal morphology, Depressed nasal ridge, Short nose ORPHA:221054
Noonan Syndrome 4
Dental malocclusion, Hydronephrosis, Ventricular septal defect, Wide mouth, Atrial septal defect,... OMIM:610733
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Camptodactyly of finger, Underdeveloped nasal alae, Micrognathia, Hypoplasia of penis, Short nose... ORPHA:2083
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome
Non-midline cleft lip, Lip pit, Cleft palate ORPHA:1072
Fraser Syndrome 1
Abnormality of the anus, Midline nasal groove, Wide nasal bridge, Cleft palate, Anophthalmia, Abn... OMIM:219000
Abetal34V Amyloidosis
Stroke, Cerebral hemorrhage, Abnormal cerebral vascular morphology ORPHA:324703
Esophageal Atresia
Abnormality of the urinary system, Ventricular septal defect, Pyloric stenosis, Renal agenesis, D... ORPHA:1199
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Alaninuria, Ventriculomegaly, Lacticaciduria, Bradycardia, Hyper... OMIM:616299
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus, Microcephaly OMIM:618302
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Vesicoureteral reflux, Wide nasal bridge, Aganglionic megacolon, Anal atresia, Atrial septal defe... OMIM:614749
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Camptodactyly of finger, Retrognathia, Mandibular prognathia, Micrognathia, Bifid uvula, Submucou... ORPHA:2521
Holoprosencephaly-Caudal Dysgenesis Syndrome
Median cleft lip, Cleft palate, Renal insufficiency, Abnormal cerebral vascular morphology ORPHA:2165
Diencephalic Syndrome
Hydrocephalus, Long penis ORPHA:1672
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Conical tooth, Non-midline cleft lip, Ventricular septal defect, Wide nasal bridge, Delayed erupt... ORPHA:1071
Charge Syndrome
Micrognathia, Secundum atrial septal defect, Cleft palate, Choanal atresia, Double outlet right v... OMIM:214800
Oculodentodigital Dysplasia
Camptodactyly of finger, Non-midline cleft lip, Micrognathia, Taurodontia, Median cleft lip, Broa... ORPHA:2710
Char Syndrome
Patent ductus arteriosus, Ventricular septal defect, Depressed nasal ridge, No permanent dentitio... ORPHA:46627
Diaphanospondylodysostosis
Cleft palate, Multiple renal cysts ORPHA:66637
Coach Syndrome 2
Elevated circulating creatinine concentration, Hyperechogenic kidneys, Hydrocephalus, Hypertension OMIM:619111
Cerebral Cavernous Malformations 2
Cerebral cavernous malformation, Stroke, Telangiectasia, Cerebral hemorrhage OMIM:603284
Zellweger Syndrome
Multicystic kidney dysplasia, High palate, Ventricular septal defect, Wide nasal bridge, Malabsor... ORPHA:912
Isolated Cleft Lip
Non-midline cleft lip, Supernumerary maxillary incisor, Bilateral cleft lip, Hypodontia, Velophar... ORPHA:199302
Peroxisome Biogenesis Disorder 8A (Zellweger)
Ventricular septal defect, Glossoptosis OMIM:614876
Penile Agenesis
Cloacal abnormality, Ventricular septal defect, Absent penis, Bilateral renal agenesis, Urethral ... ORPHA:49
Isolated Dandy-Walker Malformation
Cleft palate, Tetralogy of Fallot ORPHA:217
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus OMIM:619302
Khan-Khan-Katsanis Syndrome
Patent foramen ovale, Vesicoureteral reflux, Bilateral superior vena cava with no bridging vein, ... OMIM:618460
Woods Syndrome
Thin vermilion border, Low hanging columella, Ventricular septal defect, Wide nasal bridge OMIM:615236
Fetal And Neonatal Alloimmune Thrombocytopenia
Petechiae, Abnormal bleeding, Purpura, Hematuria, Intracranial hemorrhage, Ecchymosis, Cephalohem... ORPHA:853
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Flexion contracture, Ascending tubular aorta aneurysm, Ventricular septal defect, High palate, De... OMIM:309520
Congenital Disorder Of Glycosylation, Type Iig
Hemolytic-uremic syndrome, Pierre-Robin sequence, High palate, Long philtrum, Wide nasal bridge, ... OMIM:611209
X-Linked Intellectual Disability, Nascimento Type
Patent ductus arteriosus, Patent foramen ovale, Double outlet right ventricle, Vesicoureteral ref... ORPHA:163956
Stickler Syndrome, Type Ii
Pierre-Robin sequence, Micrognathia, Bifid uvula, Depressed nasal bridge, Anteverted nares, Cleft... OMIM:604841
Mosaic Variegated Aneuploidy Syndrome 1
Nephroblastoma, Wide nose, Multicystic kidney dysplasia, Long philtrum, Micrognathia, Atrial sept... OMIM:257300
Meckel Syndrome 13
Micrognathia, Polycystic kidney dysplasia, Flexion contracture OMIM:617562
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Duplicated collecting system, Hydronephrosis OMIM:617093
Frontometaphyseal Dysplasia 1
Camptodactyly of finger, Wrist flexion contracture, Knee flexion contracture, Dental malocclusion... OMIM:305620
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Thick lower lip vermilion, Short nose, Thin upper lip vermilion, Anteverted nares, Tented upper l... OMIM:619854
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Patent ductus arteriosus, Hydronephrosis, Prominent nose, Long philtrum, Wide nasal bridge, Renal... OMIM:300968
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Acitretin/Etretinate Embryopathy
Atrioventricular canal defect, High palate, Conotruncal defect, Micrognathia, Hypoplastic nasal s... ORPHA:40366
Odontochondrodysplasia
Patent ductus arteriosus, Dentinogenesis imperfecta, Retrognathia, Delayed eruption of teeth, Sho... ORPHA:166272
Meckel Syndrome
Pancreatic cysts, Urethral atresia, Aplasia/Hypoplasia of the tongue, Multicystic kidney dysplasi... ORPHA:564
Greig Cephalopolysyndactyly Syndrome
Macrocephaly, Hydrocephalus, Umbilical hernia ORPHA:380
Cerebral Visual Impairment
Ischemic stroke, Hydrocephalus, Intracranial hemorrhage, Microcephaly ORPHA:447788
Cerebrocostomandibular Syndrome
Patent ductus arteriosus, Pierre-Robin sequence, Ventricular septal defect, Cleft soft palate, Hi... OMIM:117650
Camptodactyly 1
Increased urinary taurine OMIM:114200
Hinman Syndrome
Vesicoureteral reflux, Recurrent urinary tract infections, Enuresis, Renal insufficiency, Hydrone... ORPHA:84085
9Q21.13 Microdeletion Syndrome
Wide nasal ridge, Downturned corners of mouth, Abnormal tongue morphology, Abnormal heart morphol... ORPHA:531151
Intellectual Disability-Strabismus Syndrome
Patent ductus arteriosus, Congenital finger flexion contractures, High palate, Prominent nose, Jo... ORPHA:363528
Neonatal Severe Primary Hyperparathyroidism
Aminoaciduria, Short stature ORPHA:417
Dysmyelination With Jaundice
Hydroureter, Hypoplasia of penis, Hydronephrosis OMIM:224250
Boomerang Dysplasia
Omphalocele, Aplasia/Hypoplasia of the abdominal wall musculature ORPHA:1263
Tiglic Acidemia
Aminoaciduria OMIM:275190
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Long philtrum, Wide nasal bridge, Velopharyngeal insufficiency, Submucous cleft hard palate, Shor... OMIM:614701
Afibrinogenemia, Congenital
Epidural hemorrhage, Abnormal umbilical stump bleeding, Abnormal bleeding, Bruising susceptibilit... OMIM:202400
Hydroxylysinuria
Hyperlysinuria OMIM:236900
Multiple Mitochondrial Dysfunctions Syndrome 3
Ventriculomegaly, Increased CSF lactate, Microcephaly, Beta-aminoisobutyric aciduria, Intrauterin... OMIM:615330
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Underdeveloped nasal alae, Ventricular septal defect, Micrognathia, Renal cyst, Inguinal hernia, ... ORPHA:166035
Orofaciodigital Syndrome Vi
Lobulated tongue, Cleft upper lip, High palate, Tongue nodules, Renal dysplasia, Micrognathia, Re... OMIM:277170
Snakebite Envenomation
Hypotension, Cerebral ischemia, Acute kidney injury, Cardiogenic shock, Abnormal bleeding, Intrac... ORPHA:449285
Carnosinase Deficiency
Carnosinuria ORPHA:1361
Peroxisome Biogenesis Disorder 11A (Zellweger)
Renal cyst, Depressed nasal bridge, Multiple renal cysts, Anteverted nares OMIM:614883
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Patent ductus arteriosus, Double outlet right ventricle, Narrow palate, Atrial septal defect, Dep... OMIM:618223
Mandibuloacral Dysplasia With Type B Lipodystrophy
Flexion contracture, High palate, Narrow nasal ridge, Stage 5 chronic kidney disease, Micrognathi... OMIM:608612
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, High, narrow palate, Ventricular septal defect ORPHA:2515
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Abnormal left ventricular function, Hydrocephalus, Microcephaly, Cardiomyopathy OMIM:613155
Combined Deficiency Of Factor V And Factor Viii
Hematuria, Intracranial hemorrhage, Bruising susceptibility, Epistaxis, Prolonged bleeding follow... ORPHA:35909
Carnosinemia
Carnosinuria OMIM:212200
Autosomal Dominant Polycystic Kidney Disease
Aortic root aneurysm, Pancreatic cysts, Hepatic cysts, Recurrent urinary tract infections, Stage ... ORPHA:730
Craniofacioskeletal Syndrome
Patent ductus arteriosus, Ventricular septal defect, Hypoplastic frontal sinuses, Interrupted aor... OMIM:300712
Ichthyosis, Split Hairs, And Amino Aciduria
Aminoaciduria OMIM:242550
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Ventricular septal defect, Wide nasal bridge, Micrognathia, Hypoplasia of penis, Depressed nasal ... ORPHA:2256
Chime Syndrome
Hydronephrosis, Pulmonary valve atresia, Ventricular septal defect, Abnormality of the dentition,... ORPHA:3474
Heart And Brain Malformation Syndrome
Camptodactyly of finger, Ventricular septal defect, Wide nasal bridge, Thick lower lip vermilion,... OMIM:616920
Hemihyperplasia, Isolated
Nephroblastoma, Myelomeningocele OMIM:235000
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Urethral atresia, Esophageal atresia, Enlarged kidney, Anal atresi... OMIM:314390
Raine Syndrome
Enamel hypoplasia, Choanal stenosis, Mandibular prognathia, High palate, Wide mouth, Natal tooth,... OMIM:259775
Diaphanospondylodysostosis
Depressed nasal ridge, Enlarged kidney, Micrognathia, Cystic renal dysplasia, Short nose, Inguina... OMIM:608022
Acrofacial Dysostosis, Catania Type
Microretrognathia, Short nose, Inguinal hernia, Abnormal palate morphology, Hypospadias, Tooth ag... ORPHA:1786
5Q14.3 Microdeletion Syndrome
Short philtrum, Short nose, Optic nerve hypoplasia, Anteverted nares, Open mouth ORPHA:228384
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Hypoplastic colon, Cystic renal dysplasia, Short nose, Omphalocele, Hypoplasia o... OMIM:200995
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Long philtrum, Ventricular septal defect, Atrial septal defect, Everted lower lip vermilion, Depr... ORPHA:75389
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Flexion contracture, High palate, Long philtrum, Wide nasal bridge, Atrial septal defect, Short n... OMIM:619383
Renal Dysplasia
Vesicovaginal fistula, Congenital posterior urethral valve, Moderate proteinuria, Abnormal renal ... ORPHA:93108
Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate
Elevated urinary N-acetylaspartic acid level, CSF pleocytosis, Increased urine alpha-ketoglutarat... OMIM:618384
Coffin-Siris Syndrome 7
Wide nose, Patent foramen ovale, Convex nasal ridge, Ventricular septal defect, Wide mouth, Thick... OMIM:618027
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Wide mouth, Bicuspid a... ORPHA:329224
Meckel Syndrome, Type 10
Bifid uvula, Camptodactyly, Renal cyst, Hypospadias, Cleft palate, Micropenis OMIM:614175
Lymphedema-Distichiasis Syndrome
Patent ductus arteriosus, Glomerulopathy, Cleft upper lip, Tubulointerstitial nephritis, Renal du... ORPHA:33001
Li-Campeau Syndrome
Patent ductus arteriosus, Patent foramen ovale, Long philtrum, Ventricular septal defect, Atrial ... OMIM:619189
Charge Syndrome
Aortic arch aneurysm, Abnormal cardiac septum morphology, Delayed eruption of teeth, Abnormal sof... ORPHA:138
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Secondary microcephaly, Hydrocephalus ORPHA:397951
Czeizel-Losonci Syndrome
Ureteral agenesis, High palate, Congenital megaureter, Micrognathia, Tracheoesophageal fistula, D... ORPHA:2437
Hartnup Disorder
Neutral hyperaminoaciduria, Short stature OMIM:234500
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome
Aminoaciduria ORPHA:79156
Mandibulofacial Dysostosis, Guion-Almeida Type
Ventricular septal defect, Deep philtrum, Esophageal atresia, Micrognathia, Atrial septal defect,... OMIM:610536
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Cleft mandible, Exaggerated median tongue furrow, Micrognathia, Everted lower lip vermilion, Subm... OMIM:608670
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Retrognathia, High palate, Short nose, Depressed nasal bridge, Recurrent upper respiratory tract ... OMIM:614069
Chromosome 1P36 Deletion Syndrome, Proximal
Patent ductus arteriosus, Patent foramen ovale, High palate, Ventricular septal defect, Coronary ... OMIM:619343
Congenital Factor Xiii Deficiency
Cerebral hemorrhage, Subcutaneous hemorrhage, Post-partum hemorrhage, Persistent bleeding after t... ORPHA:331
Cleft Lip/Palate
Dental malocclusion, Abnormal number of permanent teeth, Unilateral cleft palate, Agenesis of lat... ORPHA:199306
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Patent ductus arteriosus, Ventricular septal defect, Increased size of nasopharyngeal adenoids, A... OMIM:619769
Papillary Tumor Of The Pineal Region
Hydrocephalus, Increased CSF protein concentration ORPHA:251915
Congenital Muscular Dystrophy, Fukuyama Type
Dilated cardiomyopathy, Hydrocephalus, Ventriculomegaly, Intrauterine growth retardation ORPHA:272
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Patent ductus arteriosus, Hernia, Pierre-Robin sequence, Abnormal cardiac septum morphology, Micr... OMIM:217980
Congenital Myopathy 17
Dental malocclusion, Distal arthrogryposis, Mandibular prognathia, High palate, Long philtrum, Te... OMIM:618975
Structural Heart Defects And Renal Anomalies Syndrome
Truncus arteriosus, Ventricular septal defect, Interrupted aortic arch, Atrial septal defect, Ren... OMIM:617478
Galactose Epimerase Deficiency
Aminoaciduria, Growth delay ORPHA:79238
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Ventriculomegaly, Hydrocephalus, Hydranencephaly, Microcephaly, Intrauterine growth retardation, ... OMIM:225790
Postaxial Acrofacial Dysostosis
Conical tooth, Midgut malrotation, Cleft upper lip, Abnormality of the kidney, Pyloric stenosis, ... OMIM:263750
Nphp3-Related Meckel-Like Syndrome
Intestinal malrotation, Multicystic kidney dysplasia, Renal dysplasia ORPHA:3032
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Hepatic cysts, Colonic diverticula, Mitral valve prolapse, Polycystic kidney dysplasia, Cerebral ... OMIM:173900
Acrofacial Dysostosis 1, Nager Type
Patent ductus arteriosus, Retrognathia, Cleft upper lip, Ventricular septal defect, Wide mouth, T... OMIM:154400
Nabais Sa-De Vries Syndrome, Type 1
Vesicoureteral reflux, Short nose, Optic nerve hypoplasia, Depressed nasal bridge, Smooth philtru... OMIM:618828
Fibrochondrogenesis
Camptodactyly of finger, Depressed nasal bridge, Narrow mouth, Anteverted nares, Cleft palate, Om... ORPHA:2021
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Underdeveloped nasal alae, Multicystic kidney dysplasia, Short nose, Renal cyst, Anteverted nares... ORPHA:2031
Factor Xiii, A Subunit, Deficiency Of
Persistent bleeding after trauma, Abnormal umbilical stump bleeding, Abnormal bleeding, Intracran... OMIM:613225
Vici Syndrome
Wide nose, Cleft upper lip, Penile hypospadias, High palate, Everted upper lip vermilion, Long ph... OMIM:242840
Cockayne Syndrome Type 1
Enamel hypoplasia, Foot joint contracture, Mandibular prognathia, Anophthalmia, Delayed eruption ... ORPHA:90321
Indolylacroyl Glycinuria With Mental Retardation
Hyperglycinuria OMIM:243050
Feingold Syndrome Type 1
Patent ductus arteriosus, Vesicoureteral reflux, Jejunal atresia, Esophageal atresia, Renal dyspl... ORPHA:391641
16P12.1P12.3 Triplication Syndrome
Retrognathia, Long philtrum, Wide mouth, High, narrow palate, Atrial septal defect, Short nose, A... ORPHA:485405
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Wide nose, Patent foramen ovale, Vesicoureteral reflux, Hypoplasia of the bladder, Crossed fused ... OMIM:300707
Developmental Delay, Language Impairment, And Ocular Abnormalities
Contracture of the proximal interphalangeal joint of the 5th finger, Inguinal hernia, Pulmonic st... OMIM:620141
Ververi-Brady Syndrome
Wide nose, High palate, Prominent nose, Wide mouth, Everted lower lip vermilion, Thin upper lip v... OMIM:617982
Thanatophoric Dysplasia
Patent ductus arteriosus, Ventriculomegaly, Abnormality of the kidney, Hydrocephalus, Macrocephal... ORPHA:2655
Camptodactyly Syndrome, Guadalajara Type 1
Camptodactyly of finger, Dental malocclusion, Mandibular prognathia, High palate, Abnormality of ... ORPHA:1327
Walker-Warburg Syndrome
Anophthalmia, Bifid uvula, Submucous cleft hard palate, Hypoplasia of penis, Microphthalmia, Clef... ORPHA:899
Hyper-Beta-Alaninemia
Increased urinary taurine OMIM:237400
Inverted Duplicated Chromosome 15 Syndrome
High palate, Hernia, Ventricular septal defect, Short philtrum, Unilateral renal agenesis, Broad ... ORPHA:3306
Mirage Syndrome
Patent ductus arteriosus, Short stature, Microphallus, Recurrent urinary tract infections, Petech... OMIM:617053
Antley-Bixler Syndrome
Camptodactyly of finger, Long philtrum, Short nose, Narrow mouth, Anteverted nares, Hypoplasia of... ORPHA:83
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Hyposmia, Bifid nose, Anosmia, Cleft lip, Cleft palate, Micropenis OMIM:614838
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Hypertrophy of the urinary bladder, Peripheral pulmonary artery stenosis, Smooth philtrum, Thin l... ORPHA:280633
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Flexion contracture, Wide nasal bridge, Camptodactyly, Smooth philtrum, Total anomalous pulmonary... ORPHA:487796
Hypomandibular Faciocranial Dysostosis
Patent ductus arteriosus, Choanal stenosis, Aplasia/Hypoplasia of the tongue, Bifid uvula, Atrial... ORPHA:1790
Weiss-Kruszka Syndrome
Ventricular septal defect, Bicuspid aortic valve, Left ventricular hypertrophy, Short nose, Antev... OMIM:618619
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Vesicoureteral reflux, Recurrent urinary tract infections, Neurogenic bladder, Hypospadias, Stage... OMIM:191800
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Vascular dilatation, Renal cyst, Nephropathy, Focal segmental glomerulosclerosis, Chronic kidney ... OMIM:617056
Mandibulofacial Dysostosis-Microcephaly Syndrome
Micrognathia, Atrial septal defect, Short nose, Hypoplasia of the maxilla, Accessory oral frenulu... ORPHA:79113
Trisomy 8P
Abnormal atrioventricular connection, Retrognathia, Hernia, Multiple joint contractures, Malrotat... ORPHA:264450
Cystathioninuria
Cystathioninuria OMIM:219500
Beta-Aminoisobutyric Aciduria
Beta-aminoisobutyric aciduria OMIM:210100
Phosphohydroxylysinuria
Phosphohydroxylysinuria OMIM:615011
Myoectodermal Gonadal Dysgenesis Syndrome
Underdeveloped nasal alae, Diastasis recti, Convex nasal ridge, Long philtrum, Hypodontia, Pylori... OMIM:618419
Bamforth-Lazarus Syndrome
Retrognathia, Cleft palate, Choanal atresia ORPHA:1226
Diamond-Blackfan Anemia 10
Patent ductus arteriosus, Renal duplication, Ventricular septal defect, Morgagni diaphragmatic he... OMIM:613309
Dicarboxylic Aminoaciduria
Aminoaciduria, Aspartic aciduria, Nephrolithiasis OMIM:222730
Microphthalmia With Limb Anomalies
Cleft upper lip, High palate, Long philtrum, Hypoplasia of the premaxilla, Micrognathia, Venous i... ORPHA:1106
2P15P16.1 Microdeletion Syndrome
Camptodactyly of finger, Retrognathia, Multicystic kidney dysplasia, High palate, Long philtrum, ... ORPHA:261349
Orofacial Cleft 15
Agenesis of lateral incisor, Bilateral cleft lip, Bilateral cleft palate, Bulbous nose, Palate fi... OMIM:616788
Codas Syndrome
Enamel hypoplasia, Atrioventricular canal defect, Ventricular septal defect, Delayed eruption of ... OMIM:600373
Hemophilia B
Spontaneous, recurrent epistaxis, Hematuria, Intracranial hemorrhage, Delayed onset bleeding, Cep... ORPHA:98879
Microphthalmia, Isolated 8
Microphthalmia, True anophthalmia, Anophthalmia, Optic nerve hypoplasia OMIM:615113
Congenital Disorder Of Glycosylation, Type Iie
Retrognathia, Hydronephrosis, Wide nose, Perimembranous ventricular septal defect, Neurogenic bla... OMIM:608779
Simosa Craniofacial Syndrome
Underdeveloped nasal alae, Long philtrum, Wide nasal bridge, Long nose, Inguinal hernia, Narrow m... OMIM:182150
Johnson Neuroectodermal Syndrome
Patent ductus arteriosus, Retrognathia, Choanal stenosis, Ventricular septal defect, Anosmia, Car... OMIM:147770
X-Linked Intellectual Disability, Cantagrel Type
Tented upper lip vermilion, Short philtrum, Short nose ORPHA:85277
Melnick-Needles Syndrome
Hydronephrosis, Obtuse angle of mandible, Delayed eruption of teeth, Micrognathia, Mitral valve p... OMIM:309350
5-Oxoprolinase Deficiency
Prolinuria, Calcium oxalate nephrolithiasis, Increased level of L-pyroglutamic acid in urine OMIM:260005
Vitamin K Antagonist Embryofetopathy
Hydrocephalus, Myelomeningocele, Intrauterine growth retardation ORPHA:1914
Rhizomelic Chondrodysplasia Punctata, Type 2
Flexion contracture, High palate, Wide nasal bridge, Micrognathia, Submucous cleft hard palate, O... OMIM:222765
Hajdu-Cheney Syndrome
Patent ductus arteriosus, Dental malocclusion, Wide nose, High palate, Ventricular septal defect,... OMIM:102500
Cutis Laxa, Autosomal Recessive, Type Ic
Retrognathia, Patent foramen ovale, Vascular dilatation, Long philtrum, Morgagni diaphragmatic he... OMIM:613177
Al-Raqad Syndrome
Thin upper lip vermilion, Narrow mouth, Atrial septal defect, Short nose OMIM:616459
Urofacial Syndrome 1
Recurrent urinary tract infections, Hydroureter, Enuresis, Urethral valve, Urethral obstruction, ... OMIM:236730
15Q Overgrowth Syndrome
Ureterovesical stenosis, Nephroblastoma, Retrognathia, Mandibular prognathia, High palate, Abnorm... ORPHA:314585
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Selective tooth agenesis, Renal dysplasia, Microdontia, Depressed nasal tip, Cleft palate, Choana... OMIM:129900
Colonic Atresia
Peptic ulcer, Gastroschisis, Duodenal stenosis, Colonic atresia, Omphalocele ORPHA:1198
Right Atrial Isomerism
Right atrial isomerism, Ventricular septal defect, Common atrium, Atrial septal defect, Inguinal ... OMIM:208530
Focal Dermal Hypoplasia
Bifid ureter, Delayed eruption of teeth, Cleft palate, Anophthalmia, Omphalocele, Ureteral duplic... OMIM:305600
Isolated Polycystic Liver Disease
Vascular dilatation, Multiple renal cysts ORPHA:2924
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Ventricular septal defect, Transposition of the great arteries, Bi... OMIM:613751
X-Linked Intellectual Disability Due To Gria3 Mutations
Short upper lip, Hydronephrosis, Mandibular prognathia, Narrow palate, Macrodontia of permanent m... ORPHA:364028
Developmental And Epileptic Encephalopathy 66
Ventricular septal defect, Macrodontia of permanent maxillary central incisor, Widely spaced teet... OMIM:618067
Arthrogryposis, Distal, Type 2A
Wrist flexion contracture, Wide nasal bridge, Elbow flexion contracture, Camptodactyly, Flexion c... OMIM:193700
Hyperphosphatasia-Intellectual Disability Syndrome
Mandibular prognathia, High palate, Wide nasal bridge, Aganglionic megacolon, Micrognathia, Bifid... ORPHA:247262
Naxos Disease
Cleft upper lip, Cardiomyopathy ORPHA:34217
Non-Functioning Paraganglioma
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... ORPHA:94080
Ruvalcaba Syndrome
Convex nasal ridge, Hematuria, Short nose, Inguinal hernia, Narrow mouth, Abnormal localization o... ORPHA:3121
Postaxial Acrofacial Dysostosis
Camptodactyly of finger, Non-midline cleft lip, Micrognathia, Malar flattening, Cleft palate ORPHA:246
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Aminoaciduria, Severe short stature OMIM:204730
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Abnormal nostril morphology, Hypoplasia of penis, Short nose, Thin upper lip vermilion, Anosmia, ... ORPHA:1295
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Underdeveloped nasal alae, Ventricular septal defect, Micrognathia, Renal cyst, Broad columella, ... OMIM:250410
Central Precocious Puberty
Proportionate short stature, Hydrocephalus ORPHA:759
Ventriculomegaly With Defects Of The Radius And Kidney
Vascular dilatation, Ventriculomegaly, Lateral ventricle dilatation, Renal agenesis, Hydrocephalu... OMIM:602200
Nevus Comedonicus Syndrome
Spina bifida, Spina bifida occulta, Microcephaly ORPHA:64754
Marshall Syndrome
Thick upper lip vermilion, High palate, Long philtrum, Hypoplastic frontal sinuses, Wide nasal br... ORPHA:560
Muscle-Eye-Brain Disease
Meningocele, Holoprosencephaly, Hydrocephalus ORPHA:588
15q26 overgrowth syndrome
Camptodactyly of finger, Vesicoureteral reflux, Mandibular prognathia, High palate, Long philtrum... DECIPHER:81
Temple Syndrome
Short stature, Hydrocephalus, Postnatal growth retardation, Relative macrocephaly ORPHA:254516
Congenital Heart Defects, Multiple Types, 2
Subvalvular aortic stenosis, Ventricular septal defect, Bicuspid aortic valve, Aortic aneurysm, A... OMIM:614980
Homocarnosinosis
Carnosinuria OMIM:236130
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Retinal arteriolar tortuosity, Hematuria, Renal cyst, Lacunar stroke, Dilatation of the cerebral ... OMIM:611773
Phenylketonuria
Aminoaciduria ORPHA:716
Acrofrontofacionasal Dysostosis 1
Cleft upper lip, Mandibular prognathia, Wide mouth, Wide nasal bridge, Oligodontia, Microphthalmi... OMIM:201180
Galactosemia Iii
Aminoaciduria, Galactosuria OMIM:230350
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Underdeveloped nasal alae, Atrioventricular canal defect, Vesicoureteral reflux, Ascending tubula... ORPHA:453499
Holoprosencephaly 14
Double outlet right ventricle, Aortic valve atresia, Ventricular septal defect, Proboscis, Median... OMIM:619895
Diamond-Blackfan Anemia 8
Thick upper lip vermilion, Wide nasal bridge, Short nose OMIM:612563
Parkes Weber Syndrome
Vascular dilatation, Urinary retention, Nephrotic syndrome, Bounding pulse, Arteriovenous malform... ORPHA:90307
Down Syndrome
Narrow palate, Depressed nasal ridge, Thick lower lip vermilion, Microdontia, Aganglionic megacol... ORPHA:870
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 2
Bilateral cleft lip OMIM:616994
Congenital Alpha2-Antiplasmin Deficiency
Hemothorax, Persistent bleeding after trauma, Abnormal umbilical stump bleeding, Abnormal bleedin... ORPHA:79
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:617992
Foxg1 Syndrome Due To 14Q12 Microdeletion
Mandibular prognathia, Macroglossia, Short nose, Everted lower lip vermilion, Depressed nasal bri... ORPHA:261144
Kagami-Ogata Syndrome
Diastasis recti, Micrognathia, Inguinal hernia, Depressed nasal bridge, Pursed lips, Anteverted n... ORPHA:254519
Duane-Radial Ray Syndrome
Vesicoureteral reflux, Abnormal nasopharynx morphology, Vascular dilatation, Crossed fused renal ... OMIM:607323
Isolated Hemihyperplasia
Nephroblastoma, Myelomeningocele ORPHA:2128
Robinow Syndrome, Autosomal Dominant 1
Bifid tongue, Wide nasal bridge, Delayed eruption of teeth, Short lingual frenulum, Micrognathia,... OMIM:180700
Ellis-Van Creveld Syndrome
Cleft upper lip, Natal tooth, Delayed eruption of teeth, Hypodontia, Abnormality of the alveolar ... OMIM:225500
Desmoid Tumor
Malabsorption, Abnormality of the upper urinary tract, Abnormality of the abdominal wall, Intesti... ORPHA:873
Abeta Amyloidosis, Iowa Type
Stroke, Cerebral hemorrhage, Abnormal cerebral vascular morphology ORPHA:324708
Chondrodysplasia With Joint Dislocations, Gpapp Type
Wide nasal bridge, Micrognathia, Short nose, Narrow mouth, Cleft palate OMIM:614078
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Moyamoya phenomenon, Ischemic stroke, Short stature, Cerebral hemorrhage, Hypertension, Dilated c... ORPHA:280679
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Depressed nasal ridge, Wide mouth, Micrognathia, Short philtrum, Short nose, Microphthalmia ORPHA:163966
Smith-Kingsmore Syndrome
Diastasis recti, Long philtrum, Wide mouth, Short nose, Thin upper lip vermilion, Depressed nasal... OMIM:616638
Chiari Malformation Type Ii
Spina bifida, Hydrocephalus, Myelomeningocele, Cervical myelopathy OMIM:207950
Hydrocephalus, Congenital, X-Linked
Macrocephaly, Hydrocephalus, Aqueductal stenosis OMIM:307000
Baraitser-Winter Cerebrofrontofacial Syndrome
Retrognathia, Wide nose, Prominent nose, Long philtrum, Wide mouth, Wide nasal bridge, Transient ... ORPHA:2995
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hydrocephalus, Short stature ORPHA:2183
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Rhizomelia, Short stature, Macrocephaly, Hydrocephalus, Intrauterine growth retardation OMIM:300863
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Patent ductus arteriosus, Wide nose, Cleft upper lip, High palate, Wide nasal bridge, Micrognathi... OMIM:213980
Seckel Syndrome 5
Retrognathia, Enamel hypoplasia, Convex nasal ridge, High palate, Selective tooth agenesis, Hypod... OMIM:613823
Alexander Disease Type I
Progressive macrocephaly, Hydrocephalus ORPHA:363717
Coffin-Siris Syndrome
Patent ductus arteriosus, Hernia, Ventricular septal defect, Wide mouth, Delayed eruption of teet... ORPHA:1465
Valinemia
Valinuria OMIM:277100
Ablepharon Macrostomia Syndrome
Camptodactyly of finger, Underdeveloped nasal alae, Wide mouth, Microdontia, Hypoplasia of penis,... ORPHA:920
Posterior Meningocele
Meningocele, Increased head circumference, Neural tube defect, Occipital meningocele, Hydrocephal... ORPHA:268810
Fanconi Renotubular Syndrome 3
Aminoaciduria, Short stature, Glycosuria, Hyperphosphaturia, Growth delay, Low-molecular-weight p... OMIM:615605
Acrofacial Dysostosis, Palagonia Type
Micrognathia, Oligodontia, Supernumerary tooth, Malar flattening, Bulbous nose, High, narrow pala... ORPHA:1787
Marden-Walker Syndrome
High palate, Long philtrum, Joint contracture of the hand, Micrognathia, Pyloric stenosis, Campto... OMIM:248700
Orofaciodigital Syndrome Type 4
Camptodactyly of finger, Micrognathia, Bifid uvula, Abnormal oral frenulum morphology, Median cle... ORPHA:2753
Congenital Factor X Deficiency
Subarachnoid hemorrhage, Hemoperitoneum, Post-partum hemorrhage, Antepartum hemorrhage, Abnormal ... ORPHA:328
Birt-Hogg-Dube Syndrome
Multiple lipomas, Large intestinal polyposis, Renal cell carcinoma, Renal cyst, Renal neoplasm, C... OMIM:135150
Kabuki Syndrome
Lip pit, Abnormal cardiac septum morphology, Microdontia, Cleft palate, Orofacial cleft, Abnormal... ORPHA:2322
Developmental And Epileptic Encephalopathy 75
Wide nasal bridge, Short philtrum, Short nose, Anteverted nares, Open mouth, Cardiomyopathy OMIM:618437
Pfeiffer Syndrome Type 3
Vesicoureteral reflux, High palate, Choanal atresia, Anal atresia, Short nose, Intestinal malrota... ORPHA:93260
Tetrasomy 18P
Thin vermilion border, Narrow mouth, Long philtrum, Short nose ORPHA:3307
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst OMIM:174050
Oculotrichoanal Syndrome
Anophthalmia, Anteriorly placed anus, Microphthalmia, Bifid nasal tip, Anal stenosis ORPHA:2717
Hydroxykynureninuria
Aminoaciduria OMIM:236800
Greig Cephalopolysyndactyly Syndrome
Ventriculomegaly, Hydrocephalus, Macrocephaly, Hypospadias, Umbilical hernia OMIM:175700
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
High palate, Short lingual frenulum, Microdontia, Polycystic kidney dysplasia, Agenesis of perman... OMIM:614091
Richieri-Costa/Guion-Almeida Syndrome
Cleft palate, Cleft upper lip, Malar flattening, Mandibular prognathia OMIM:268850
Atrial Septal Defect 2
Patent ductus arteriosus, Atrioventricular canal defect, Ventricular septal defect, Atrial septal... OMIM:607941
Gabriele-De Vries Syndrome
Patent foramen ovale, Distal arthrogryposis, Hydronephrosis, Pierre-Robin sequence, High palate, ... OMIM:617557
Hyperlysinemia, Type I
Hyperlysinuria OMIM:238700
Acquired Von Willebrand Syndrome
Hypotension, Persistent bleeding after trauma, Subcutaneous hemorrhage, Hematuria, Intracranial h... ORPHA:99147
46,Xx Sex Reversal 5
Urogenital sinus anomaly, Ventricular septal defect, Secundum atrial septal defect, Hypoplastic l... OMIM:618901
Radio-Renal Syndrome
Retrognathia, Multicystic kidney dysplasia, Convex nasal ridge, Renal dysplasia, Renal hypoplasia... ORPHA:3015
Tarp Syndrome
Pierre-Robin sequence, Wide nasal bridge, Tongue nodules, Abnormal duodenum morphology, Micrognat... ORPHA:2886
Isotretinoin-Like Syndrome
Patent ductus arteriosus, Conotruncal defect, Bicuspid aortic valve, Micrognathia, Abnormal aorti... ORPHA:2306
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, High palate, Anophthalmia ORPHA:139471
Autosomal Recessive Omodysplasia
Hernia, Long philtrum, Micrognathia, Short nose, Depressed nasal bridge, Anteverted nares ORPHA:93329
Renal And Mullerian Duct Hypoplasia
Anteriorly displaced urethral meatus, Micrognathia, Short nose, Horseshoe kidney, Renal hypoplasia OMIM:266810
Cebalid Syndrome
High palate, Depressed nasal ridge, Short nose, Congenital diaphragmatic hernia, Depressed nasal ... OMIM:618774
Cerebrofaciothoracic Dysplasia
Wide nose, Cleft upper lip, Hernia, Wide mouth, Short nose, Cleft palate, Broad philtrum ORPHA:1394
Beckwith-Wiedemann Syndrome
Nephroblastoma, Vesicoureteral reflux, Diastasis recti, Renal cortical cysts, Nephrocalcinosis, E... OMIM:130650
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Patent ductus arteriosus, Restrictive cardiomyopathy, Congenital megaureter, Long philtrum, Wide ... ORPHA:369837
Peters Plus Syndrome
Abnormal cardiac septum morphology, Micrognathia, Bicuspid pulmonary valve, Abnormal pulmonary ve... ORPHA:709
Heterotaxy, Visceral, 2, Autosomal
Double outlet right ventricle, Atrioventricular canal defect, Left atrial isomerism, Bilateral su... OMIM:605376
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Aminoaciduria, 3-Methylglutaconic aciduria, Lacticaciduria, Microcephaly, Renal hypoplasia, Incre... OMIM:604273
Au-Kline Syndrome
Aortic root aneurysm, Dental malocclusion, Vesicoureteral reflux, Retrognathia, Bifid tongue, Hig... OMIM:616580
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Selective tooth agenesis, Renal dysplasia, Microdontia, Depressed nasal tip, Cleft palate, Choana... OMIM:604292
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Enamel hypoplasia, High palate, Ankyloglossia, Mitral valve prolapse, Unilateral microphthalmos, ... OMIM:618874
Meckel Syndrome, Type 6
Cleft upper lip, Hepatic cysts, Renal cyst, Horseshoe kidney, Aplasia of the bladder, Cleft palate OMIM:612284
Immune Thrombocytopenia
Cerebral hemorrhage, Petechiae, Purpura, Bruising susceptibility, Epistaxis, Gingival bleeding, G... ORPHA:3002
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve,... ORPHA:500159
Robinow Syndrome, Autosomal Recessive 1
Bifid tongue, Wide nasal bridge, Micrognathia, Absent uvula, Nephrolithiasis, Gingival overgrowth... OMIM:268310
Lambotte Syndrome
Retrognathia, Convex nasal ridge, Narrow mouth, Ventricular septal defect OMIM:245552
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Patent ductus arteriosus, Oral ulcer, High palate, Perianal abscess, Wide nasal bridge, Recurrent... OMIM:612541
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Aminoaciduria, Proximal tubulopathy, Increased CSF lactate OMIM:612075
Glutamate Formiminotransferase Deficiency
Aminoaciduria, Growth delay OMIM:229100
7Q11.23 Microduplication Syndrome
Short lingual frenulum, Micrognathia, Abnormal columella morphology, Ventricular septal defect, A... ORPHA:96121
Methylmalonic Aciduria And Homocystinuria, Cblx Type
Methylmalonic aciduria, Homocystinuria, Microcephaly, Short stature OMIM:309541
Melanosis, Neurocutaneous
Hydrocephalus, Choroid plexus papilloma, Dandy-Walker malformation OMIM:249400
Abeta Amyloidosis, Italian Type
Stroke, Cerebral hemorrhage ORPHA:324713
1P31P32 Microdeletion Syndrome
Moyamoya phenomenon, Ventriculomegaly, Macrocephaly, Abnormality of the urinary system, Intravent... ORPHA:401986
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Ventricular hypertrophy, Patent foramen ovale, Long philtrum, Micrognathia, Short nose, Inguinal ... OMIM:602613
Distal Monosomy 9P
Hernia, Wide nasal bridge, Short nose, Hypospadias, Cleft palate, High, narrow palate, Abnormalit... ORPHA:1642
Craniofacial Microsomia
Patent ductus arteriosus, Transverse facial cleft, Cleft upper lip, Vesicoureteral reflux, Multic... OMIM:164210
Congenital Factor Vii Deficiency
Post-partum hemorrhage, Intracranial hemorrhage, Bruising susceptibility, Epistaxis, Gingival ble... ORPHA:327
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida OMIM:211960
Mercaptolactate-Cysteine Disulfiduria
Aminoaciduria OMIM:249650
Craniofacial Dyssynostosis With Short Stature
Patent ductus arteriosus, Ventriculomegaly, Short stature, Hydrocephalus, Hypospadias, Horseshoe ... OMIM:218350
Chromosome 3Q29 Duplication Syndrome
Abnormally large globe, Bulbous nose, Wide nasal bridge, Short nose OMIM:611936
16P13.11 Microduplication Syndrome
Ventricular septal defect, Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Trans... ORPHA:261243
20Q11.2 Microduplication Syndrome
Retrognathia, Wide nasal bridge, Abnormal nasal bridge morphology, Tented philtrum, Abnormal oral... ORPHA:363659
Hypophosphatasia, Infantile
Phosphoethanolaminuria, Elevated urine pyrophosphate, Intracranial hemorrhage, Disproportionate s... OMIM:241500
Vesicoureteral Reflux 3
Ureter duplex, Recurrent urinary tract infections, Hydroureter, Grade IV vesicoureteral reflux, G... OMIM:613674
Igg4-Related Aortitis
Ascending tubular aorta aneurysm, Abnormal common carotid artery morphology, Dilated left subclav... ORPHA:449400
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Wide nose, Dental malocclusion, Abnormality of upper lip vermillion, Pierre-Robin sequence, Ventr... ORPHA:251028
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Aortic regurgitation, Hydrocephalus, Umbilical hernia ORPHA:2181
Maternal Uniparental Disomy Of Chromosome 6
Inguinal hernia, Cleft upper lip, Cleft palate ORPHA:96181
Homozygous 11P15-P14 Deletion Syndrome
Renal tubular dysfunction, Generalized aminoaciduria OMIM:606528
Pseudo-Torch Syndrome 2
Patent ductus arteriosus, Ventriculomegaly, Lateral ventricle dilatation, Petechiae, Cerebral hem... OMIM:617397
Factor Vii Deficiency
Abnormal bleeding, Intracranial hemorrhage, Bruising susceptibility, Epistaxis, Menorrhagia, Prol... OMIM:227500
Insulin-Like Growth Factor I, Resistance To
Retrognathia, Patent foramen ovale, Rieger anomaly, High palate, Ventricular septal defect, Long ... OMIM:270450
Phelan-Mcdermid Syndrome
Patent ductus arteriosus, Dental malocclusion, Vesicoureteral reflux, High palate, Ventricular se... OMIM:606232
Intellectual Developmental Disorder, Autosomal Dominant 35
Macrocephaly, Hydrocephalus, Ventriculomegaly, Intrauterine growth retardation OMIM:616355
Microphthalmia, Lenz Type
Camptodactyly of finger, Hydronephrosis, Delayed eruption of teeth, Renal hypoplasia/aplasia, Hyd... ORPHA:568
Isotretinoin Embryopathy-Like Syndrome
Cleft palate, Micrognathia, Conotruncal defect OMIM:243440
Nijmegen Breakage Syndrome
Cleft upper lip, Deep philtrum, Recurrent urinary tract infections, Micrognathia, Malar prominenc... OMIM:251260
Cerebral Cavernous Malformations 3
Cerebral cavernous malformation, Cerebral hemorrhage OMIM:603285
Harrod Syndrome
Dental malocclusion, Multicystic kidney dysplasia, High palate, Hypospadias, Narrow mouth, Long nose ORPHA:2115
Trichothiodystrophy 4, Nonphotosensitive
Retrognathia, Ventricular septal defect, Short nose, Microphthalmia, Anteverted nares, Hypoplasia... OMIM:234050
Iniencephaly
Mandibular aplasia, Gastroschisis, Renal agenesis, Anal atresia, Congenital diaphragmatic hernia,... ORPHA:63259
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Wide nose, Cleft upper lip, Bifid tongue, Long philtrum, Ectopic anus, Esophageal atresia, Microg... ORPHA:93271
Pde4D Haploinsufficiency Syndrome
Mandibular prognathia, Prominent nose, Long philtrum, Micrognathia, Prominent nasal tip, Short ph... ORPHA:439822
Congenital Disorder Of Glycosylation, Type Iif
Aminoaciduria, Pulmonary hemorrhage, Subcutaneous hemorrhage, Aortic regurgitation, Microcephaly,... OMIM:603585
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Tubulointerstitial nephritis, Ventricular septal defect, Natal tooth, Micrognathia, Hematuria, De... OMIM:616901
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Moyamoya phenomenon, Cerebral hemorrhage, Short stature, Abnormal cerebral vascular morphology, D... OMIM:300845
Intellectual Developmental Disorder, Autosomal Dominant 48
Patent ductus arteriosus, Ventricular septal defect, Bicuspid aortic valve, Hypospadias, Antevert... OMIM:617751
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Alaninuria OMIM:615158
Chromosome 17Q12 Deletion Syndrome
Retrognathia, Hypoplasia of the bladder, High palate, Multicystic kidney dysplasia, Mandibular pr... OMIM:614527
Feingold Syndrome Type 2
Jejunal atresia, Ventricular septal defect ORPHA:391646
Trisomy 9P
Non-midline cleft lip, Abnormal nasal morphology, Downturned corners of mouth, Dental crowding, I... ORPHA:236
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Retrognathia, Patent foramen ovale, Mandibular prognathia, Micrognathia, Lens coloboma, Inguinal ... OMIM:618914
Coach Syndrome 1
Multiple small medullary renal cysts, Vascular dilatation, Wide mouth, Stage 5 chronic kidney dis... OMIM:216360
Joubert Syndrome 21
Renal cyst, Single naris, Hyperechogenic kidneys, Anophthalmia OMIM:615636
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Knee flexion contracture, Antenatal intracerebral hemorrhage, Narrow palate, High palate, Renal d... OMIM:608836
Distal Monosomy 12Q
Micrognathia, Elbow flexion contracture, Median cleft lip, Smooth philtrum, Patent foramen ovale,... ORPHA:96149
Acromelic Frontonasal Dysostosis
Tubulonodular pericallosal lipoma, Cleft upper lip, Wide nasal bridge, Dilation of Virchow-Robin ... OMIM:603671
Mosaic Trisomy 8
Camptodactyly of finger, Vesicoureteral reflux, Wide nose, High palate, Micrognathia, Broad nasal... ORPHA:96061
Tetraamelia-Multiple Malformations Syndrome
Aplasia/Hypoplasia involving the nose, Multicystic kidney dysplasia, Septo-optic dysplasia, Micro... ORPHA:3301
Humero-Radial Synostosis
Meningocele, Microcephaly ORPHA:3265
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Pulmonary artery atresia, Left superior vena cava draining directly to the left atrium, Ventricul... OMIM:613759
3Q29 Microduplication Syndrome
High palate, Ventricular septal defect, Ectopic anus, Deep philtrum, Wide nasal bridge, Camptodac... ORPHA:251038
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Hypoplasia of the bladder, Ventricular septal defect, Renal agenesis, Congenital diaphragmatic he... OMIM:611812
Doors Syndrome
Wide nasal bridge, Short lingual frenulum, Abnormality of the urinary system, Cleft palate, Gingi... ORPHA:79500
Stankiewicz-Isidor Syndrome
Patent ductus arteriosus, Retrognathia, Prominent nose, Truncus arteriosus, Ventricular septal de... OMIM:617516
Methanol Poisoning
Permanent atrial fibrillation, Cerebral hemorrhage, Intracranial hemorrhage, Inflammatory arterio... ORPHA:31825
Smith-Lemli-Opitz Syndrome
Atrioventricular canal defect, Bifid tongue, Wide nasal bridge, Micrognathia, Tooth agenesis, Cle... ORPHA:818
Temtamy Preaxial Brachydactyly Syndrome
Talon cusp, Abnormally large globe, Tooth malposition, Microdontia, Hypodontia, Oligodontia, Micr... ORPHA:363417
Rhombencephalosynapsis
Esophageal atresia, Septo-optic dysplasia, Aganglionic megacolon, Anal atresia, Microretrognathia... ORPHA:59315
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Wide nose, Long philtrum, Micrognathia, Oligodontia, Short philtrum, Dorsocervical fat pad, Short... ORPHA:391408
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Pulmonary embolism, Purpura, Cerebral hemorrhage OMIM:614514
Microphthalmia With Linear Skin Defects Syndrome
Retrognathia, Wide nose, Mandibular aplasia, Anophthalmia, Abnormal cardiac septum morphology, Ab... ORPHA:2556
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Patent ductus arteriosus, Retrognathia, High palate, Ventricular septal defect, Cleft palate, Pro... ORPHA:52055
Hemophilia A
Intracranial hemorrhage, Bleeding with minor or no trauma, Oral cavity bleeding, Gastrointestinal... ORPHA:98878
Combined Oxidative Phosphorylation Deficiency 11
Renal tubular acidosis, Renal dysplasia, Renal cyst, Renal hypoplasia, Tongue fasciculations, Ren... OMIM:614922
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Patent foramen ovale, Wide mouth, Bulbous nose, Macroglossia, Everted lower lip vermilion, Depres... OMIM:616789
Congenitally Uncorrected Transposition Of The Great Arteries
Patent ductus arteriosus, Ventricular septal defect, Abnormal mitral valve morphology, Levotransp... ORPHA:860
Leukodystrophy, Hypomyelinating, 10
Long philtrum, Short nose, Smooth philtrum, Anteverted nares, Thin vermilion border, Bulbous nose... OMIM:616420
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Cleft upper lip, Flexion contracture, Abnormal cardiac septum morphology, Micrognathia, Unilatera... OMIM:308050
Infantile Sialic Acid Storage Disease
Hydrocephalus, Congestive heart failure, Nephrotic syndrome OMIM:269920
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
High palate, Deep philtrum, Micrognathia, Short nose, Depressed nasal bridge, Abnormal heart morp... ORPHA:314655
Lateral Meningocele Syndrome
Patent ductus arteriosus, High palate, Ventricular septal defect, Long philtrum, Keloids, Neuroge... OMIM:130720
Down Syndrome
Patent ductus arteriosus, Atrioventricular canal defect, Double outlet right ventricle, Patent fo... OMIM:190685
Combined Oxidative Phosphorylation Deficiency 52
Aminoaciduria, Renal insufficiency, Hypertrophic cardiomyopathy, Lacticaciduria OMIM:619386
Ventricular Septal Defect 3
Patent ductus arteriosus, Pulmonary artery stenosis, Ventricular septal defect, Atrial septal defect OMIM:614432
Endocrine-Cerebroosteodysplasia
Thick upper lip vermilion, Natal tooth, Bilateral cleft lip, Microphallus, Enlarged kidney, Micro... OMIM:612651
Desmosterolosis
Patent ductus arteriosus, Retrognathia, Renal hypoplasia/aplasia, Micrognathia, Bifid uvula, Subm... ORPHA:35107
Ogden Syndrome
Underdeveloped nasal alae, Enlarged naris, Everted upper lip vermilion, Ventricular septal defect... ORPHA:276432
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Pulmonary arterial hypertension, Hemolytic-uremic syndrome, Glomerulopathy, Methylmalonic aciduri... ORPHA:79282
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Patent ductus arteriosus, Underdeveloped nasal alae, Overhanging nasal tip, Ventricular septal de... ORPHA:163979
Viss Syndrome
Aortic tortuosity, Ascending tubular aorta aneurysm, Bifid tongue, Cleft soft palate, Micrognathi... OMIM:619472
Feingold Syndrome 2
Intestinal atresia, Ventricular septal defect OMIM:614326
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Meckel Syndrome, Type 7
Patent ductus arteriosus, Pancreatic cysts, Multicystic kidney dysplasia, Stage 5 chronic kidney ... OMIM:267010
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Aminoaciduria, Cleft upper lip, Abnormality of the dentition OMIM:273400
Diamond-Blackfan Anemia 1
Retrognathia, Cleft upper lip, High palate, Ventricular septal defect, Depressed nasal ridge, Mic... OMIM:105650
Methimazole Embryofetopathy
Abnormal aortic morphology, Ventricular septal defect, Esophageal atresia, Coarctation of aorta, ... ORPHA:1923
Glutamine Deficiency, Congenital
Flexion contracture, Wide nasal bridge, Camptodactyly, Short nose, Depressed nasal bridge, Anteve... OMIM:610015
Menkes Disease
Intracranial hemorrhage, Intrauterine growth retardation, Short stature, Microcephaly OMIM:309400
Kleefstra Syndrome 1
Mandibular prognathia, Conotruncal defect, Natal tooth, Macroglossia, Everted lower lip vermilion... OMIM:610253
2Q37 Microdeletion Syndrome
Nephroblastoma, Underdeveloped nasal alae, Abnormal aortic morphology, Multicystic kidney dysplas... ORPHA:1001
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Retrognathia, Microdontia, Hypoplasia of penis, Short nose, Inguinal hernia, Depressed nasal brid... ORPHA:1812
Roifman Syndrome
Underdeveloped nasal alae, Hip contracture, Ventricular septal defect, Long philtrum, Noncompacti... OMIM:616651
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Malabsorption, Micrognathia, Macroglossia, Short nose, Depressed nasal bridge, Protruding tongue,... OMIM:242860
Peutz-Jeghers Syndrome
Stomach cancer, Neoplasm of the nose, Abnormal pigmentation of the oral mucosa, Enlarged polycyst... ORPHA:2869
3Mc Syndrome 3
Cleft upper lip, Diastasis recti, Penoscrotal hypospadias, Horseshoe kidney, Cleft palate, Microp... OMIM:248340
Autosomal Dominant Popliteal Pterygium Syndrome
Fibrous syngnathia, Non-midline cleft lip, Lip pit, Micrognathia, Thin upper lip vermilion, Cleft... ORPHA:1300
Coffin-Siris Syndrome 4
Patent ductus arteriosus, Mitral atresia, Wide nose, Ventricular septal defect, Everted upper lip... OMIM:614609
Heart Defects-Limb Shortening Syndrome
Abnormal tricuspid valve morphology, Atrial septal defect, Ventricular septal defect, Abnormal mi... ORPHA:1354
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Wide nose, Vascular dilatation, Deep philtrum, Short nose, Depressed nasal bridge, Anteverted nar... OMIM:613320
Marcus-Gunn Syndrome
Abnormal heart morphology, Cleft lip, Cleft palate, Abnormality of the sense of smell, Nephrolith... ORPHA:91412
Malan Syndrome
Retrognathia, Mandibular prognathia, Advanced eruption of teeth, Hyperplasia of the premaxilla, S... OMIM:614753
Severe X-Linked Intellectual Disability, Gustavson Type
Vesicoureteral reflux, Contractures of the large joints, Ventricular septal defect, Micrognathia,... ORPHA:3078
Diamond-Blackfan Anemia 7
Patent ductus arteriosus, Vesicoureteral reflux, Ventricular septal defect, Secundum atrial septa... OMIM:612562
Junctional Epidermolysis Bullosa With Pyloric Atresia
Enamel hypoplasia, Congenital pyloric atresia, Renal duplication, Renal dysplasia, Urethral stric... ORPHA:79403
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Macrocephaly, Hydrocephalus, Ventriculomegaly, Short stature OMIM:109120
Heterotaxy, Visceral, 7, Autosomal
Atrioventricular canal defect, Mitral atresia, Abnormal cardiac septum morphology, Transposition ... OMIM:616749
Beckwith-Wiedemann Syndrome
Large intestinal polyposis, Hypertrophic cardiomyopathy, Cleft palate, Nephrolithiasis, Nephrobla... ORPHA:116
1Q44 Microdeletion Syndrome
Vesicoureteral reflux, Ventriculomegaly, Short stature, Hydrocephalus, Biparietal narrowing, Grow... ORPHA:238769
Amish Lethal Microcephaly
Spina bifida, Organic aciduria, Ventriculomegaly, Microcephaly ORPHA:99742
14Q22Q23 Microdeletion Syndrome
Underdeveloped nasal alae, Anophthalmia, Micrognathia, Optic nerve aplasia, Downturned corners of... ORPHA:264200
Succinic Semialdehyde Dehydrogenase Deficiency
Increased level of gamma-aminobutyric acid in urine, Elevated urinary 4-hydroxybutyric acid, Elev... OMIM:271980
Fetal Hydantoin Syndrome
Hernia, Depressed nasal ridge, Wide mouth, Short nose, Everted lower lip vermilion, Cleft palate ORPHA:1912
Congenital Disorder Of Glycosylation, Type It
Pierre-Robin sequence, Ventricular septal defect, Micrognathia, Bifid uvula, Dilated cardiomyopat... OMIM:614921
Central Neurocytoma
Hydrocephalus, Abnormal lateral ventricle morphology ORPHA:73256
Medullary cystic kidney disease 2
Renal tubular atrophy, Tubulointerstitial nephritis, Multiple small medullary renal cysts, Stage ... OMIM:603860
Subependymal Nodular Heterotopia
Meningocele, Occipital encephalocele, Nasofrontal encephalocele, Myelomeningocele ORPHA:101030
Radio-Tartaglia Syndrome
Retrognathia, High palate, Ventricular septal defect, Long philtrum, Wide mouth, Wide nasal bridg... OMIM:619312
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Bifid tongue, Wide nasal bridge, Exaggerated median tongue furrow, Bifid uvula, Optic nerve hypop... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Bifid tongue, Wide nasal bridge, Exaggerated median tongue furrow, Bifid uvula, Optic nerve hypop... ORPHA:352665
Renal Agenesis, Bilateral
Non-midline cleft lip, Depressed nasal ridge, Renal agenesis, Tracheoesophageal fistula, Abnormal... ORPHA:1848
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Patent ductus arteriosus, Patent foramen ovale, Vesicoureteral reflux, High palate, Ventricular s... OMIM:616975
Meacham Syndrome
Patent ductus arteriosus, Ventricular septal defect, Cardiac total anomalous pulmonary venous con... OMIM:608978
Hydrocephalus, Normal-Pressure, 1
Urinary incontinence, Normal pressure hydrocephalus OMIM:236690
Thiamine-Responsive Megaloblastic Anemia Syndrome
Aminoaciduria, Short stature, Arrhythmia, Stroke, Cardiomyopathy OMIM:249270
Wyburn-Mason Syndrome
Vascular dilatation, Cerebral hemorrhage, Abnormal cerebral vascular morphology, Arteriovenous ma... ORPHA:53719
Simpson-Golabi-Behmel Syndrome, Type 1
Wide nasal bridge, Exaggerated median tongue furrow, Duplication of renal pelvis, Cleft palate, G... OMIM:312870
Oeis Complex
Duplicated colon, Hydronephrosis, Vesicovaginal fistula, Hydroureter, Renal agenesis, Anal atresi... OMIM:258040
Muscular Dystrophy, Cardiac Type
Carnosinuria, Cardiomyopathy, Abnormal EKG OMIM:309930
Disorder Of Sex Development-Intellectual Disability Syndrome
Short philtrum, Hypoplasia of penis, Short nose, Downturned corners of mouth, Thin vermilion border ORPHA:2983
Joubert Syndrome 16
Renal cyst, Nephronophthisis OMIM:614465
Peho Syndrome
Retrognathia, Tented upper lip vermilion, Open mouth, Short nose OMIM:260565
Vacterl Association With Hydrocephalus
Renal hypoplasia, Hydrocephalus, Aqueductal stenosis, Stillbirth OMIM:276950
Hyperlysinuria With Hyperammonemia
Hyperlysinuria, Growth delay, Dibasicaminoaciduria OMIM:238750
Methylcobalamin Deficiency Type Cble
Hemolytic-uremic syndrome, Glomerulopathy, Ventriculomegaly, Hydrocephalus, Hypertension, Microce... ORPHA:2169
Cutis Laxa, Autosomal Recessive, Type Iia
High palate, Long philtrum, Short nose, Lipodystrophy, Inguinal hernia, Narrow mouth, Anteverted ... OMIM:219200
Isovaleric Acidemia
Cerebellar hemorrhage, Hyperglycinuria OMIM:243500
Orofaciodigital Syndrome Type 2
Atrioventricular canal defect, Talon cusp, Bifid tongue, High palate, Central retinal vessel vasc... ORPHA:2751
Isolated Klippel-Feil Syndrome
Ventricular septal defect, Ectopic anus, Renal hypoplasia/aplasia, Anal atresia, Cleft palate ORPHA:2345
Hydrocephalus, Congenital, 4
Communicating hydrocephalus, Ventriculomegaly OMIM:618667
Hypertryptophanemia
Tryptophanuria OMIM:600627
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventriculomegaly, Cerebral ischemia, Arteriovenous malformation, Telangiectasia of the skin, Macr... ORPHA:60040
Floating-Harbor Syndrome
Congenital posterior urethral valve, Microdontia, Celiac disease, Stage 5 chronic kidney disease,... ORPHA:2044
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Intestinal malrotation, Micrognathia, Omphalocele ORPHA:3035
Meacham Syndrome
Patent ductus arteriosus, Conotruncal defect, Ventricular septal defect, Crossed fused renal ecto... ORPHA:3097
Cardiofaciocutaneous Syndrome 1
Dental malocclusion, Hydronephrosis, High palate, Deep philtrum, Pulmonic stenosis, Micrognathia,... OMIM:115150
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Macrocephaly, Hydrocephalus, Disproportionate short-trunk short stature, Microcephaly OMIM:613330
Rhyns Syndrome
Nephronophthisis, Multicystic kidney dysplasia ORPHA:140976
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cleft upper lip, Bifid tongue, Renal dysplasia, Enlarged kidney, Polycystic kidney dysplasia, Ana... OMIM:613091
Floating-Harbor Syndrome
Congenital posterior urethral valve, Microdontia, Celiac disease, Prominent nose, Atrial septal d... OMIM:136140
Temple Syndrome
Relative macrocephaly, Hydrocephalus, Intrauterine growth retardation, Short stature OMIM:616222
Hajdu-Cheney Syndrome
Abnormal mandible morphology, Wide nasal bridge, Micrognathia, Cleft palate, Ventricular septal d... ORPHA:955
Hereditary Hemorrhagic Telangiectasia
Pulmonary arterial hypertension, Pulmonary embolism, Mucosal telangiectasiae, Cerebral hemorrhage... ORPHA:774
Propionic Acidemia
Cerebellar hemorrhage, Short stature, Increased level of hippuric acid in urine, Hyperglycinuria,... OMIM:606054
Mycophenolate Mofetil Embryopathy
Ventricular septal defect, Micrognathia, Bifid nose, Coarctation of aorta, Tracheoesophageal fist... ORPHA:268249
Meckel Syndrome, Type 3
Occipital encephalocele, Hydrocephalus, Multicystic kidney dysplasia, Dandy-Walker malformation OMIM:607361
Acromelic Frontonasal Dysplasia
Wide mouth, Midline central nervous system lipomas, Bifid nose, Median cleft lip, Broad nasal tip... ORPHA:1827
Cenani-Lenz Syndrome
Convex nasal ridge, Crossed fused renal ectopia, Renal hypoplasia/aplasia, Hypodontia, Short phil... ORPHA:3258
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Hemoperitoneum, Subcutaneous hemorrhage, Post-partum hemorrhage, Epidural hemorrhage, Persistent ... ORPHA:465
Femoral-Facial Syndrome
Underdeveloped nasal alae, Truncus arteriosus, Ventricular septal defect, Long philtrum, Microgna... OMIM:134780
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Patent ductus arteriosus, High palate, Ventricular septal defect, Long philtrum, Bicuspid aortic ... OMIM:610759
Spondylocostal Dysostosis 4, Autosomal Recessive
Unilateral vertebral artery hypoplasia, Myelomeningocele, Short stature, Neurogenic bladder, Apla... OMIM:613686
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
Hypoplasia of the zygomatic bone, Malar flattening, Depressed nasal bridge, Short nose ORPHA:2835
Chops Syndrome
Patent ductus arteriosus, Patent foramen ovale, Vesicoureteral reflux, Ventricular septal defect,... OMIM:616368
Bardet-Biedl Syndrome 17
Hyposmia, Stage 5 chronic kidney disease, Renal cyst, Polyuria, Situs inversus totalis, Dextrocar... OMIM:615994
Meckel Syndrome, Type 9
Multicystic kidney dysplasia OMIM:614209
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Dental malocclusion, Wide nasal bridge, Microretrognathia, Renal cyst, Carious teeth OMIM:615560
Microphthalmia, Syndromic 3
Patent ductus arteriosus, Ventricular septal defect, Anophthalmia, Esophageal atresia, Optic nerv... OMIM:206900
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
3-Methylglutaconic aciduria, Mandibular prognathia, Micrognathia, Optic nerve hypoplasia, Short n... ORPHA:496790
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Pancreatic cysts, Long philtrum, Polycystic kidney dysplasia, Renal cyst, Buphthalmos, Thin upper... OMIM:610199
Hyperglycinuria
Calcium oxalate nephrolithiasis, Hyperglycinuria OMIM:138500
Sneddon Syndrome
Hypertension, Stroke, Ischemic stroke, Cerebral hemorrhage OMIM:182410
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Short nose OMIM:245570
Congenital Disorder Of Glycosylation, Type Iil
Patent ductus arteriosus, Proximal tubulopathy, Ventriculomegaly, Hydrocephalus, Abnormal bleedin... OMIM:614576
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Scarring, Cleft palate, Arthrogryposis multiplex congenita, Abnormal duodenum morphology, Atrophi... OMIM:601776
H Syndrome
Cleft upper lip, Hernia, Malabsorption, Enlarged kidney, Abnormality of the kidney, Camptodactyly... ORPHA:168569
Ochoa Syndrome
Urinary incontinence, Vesicoureteral reflux, Recurrent urinary tract infections, Renal insufficie... ORPHA:2704
Contractures-Developmental Delay-Pierre Robin Syndrome
Underdeveloped nasal alae, Wrist flexion contracture, Micrognathia, Atrial septal defect, Inguina... ORPHA:436003
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Flexion contracture, Wide nasal bridge, Micrognathia, Camptodactyly, Abnormal aortic arch morphol... ORPHA:96334
Chromosome 14Q11-Q22 Deletion Syndrome
Patent ductus arteriosus, Patent foramen ovale, High palate, Ventricular septal defect, Long phil... OMIM:613457
Saccharopinuria
Hyperlysinuria, Citrullinuria, Cystinuria, Short stature ORPHA:3124
Oxoglutaric Aciduria
Hydrocephalus, Abnormal urine alpha-ketoglutarate concentration, Short stature ORPHA:31
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Hypospadias, Depressed nasal bridge, Short nose OMIM:616910
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Hydronephrosis, Flexion contracture, Depressed nasal ridge, Recurrent urinary tract infections, T... ORPHA:847
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Aminoaciduria, Microcephaly, Prolonged prothrombin time, Increased CSF lactate, Intraventricular ... OMIM:619055
Distal Monosomy 10Q
Patent ductus arteriosus, Vesicoureteral reflux, High palate, Enuresis, Prominent nose, Wide nasa... ORPHA:96148
Craniofrontonasal Syndrome
Cleft upper lip, Wide nasal bridge, Congenital diaphragmatic hernia, Hypospadias, Bifid nasal tip... OMIM:304110
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Patent ductus arteriosus, Wide mouth, Deep philtrum, Mitral stenosis, Renal dysplasia, Coarctatio... OMIM:617260
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Ventricular septal defect, Pyloric stenosis, Camptodactyly, Arthrogryposis multiplex congenita, A... OMIM:614262
Pelvis-Shoulder Dysplasia
Camptodactyly of finger, Micrognathia, Bilateral microphthalmos, Microglossia, Thick anterior alv... ORPHA:2839
Acrodysostosis 2 With Or Without Hormone Resistance
Mandibular prognathia, Short nose, Hypospadias, Depressed nasal bridge, Anteverted nares, Malar f... OMIM:614613
Loeys-Dietz Syndrome 5
Aortic root aneurysm, Congenital finger flexion contractures, Patent foramen ovale, Retrognathia,... OMIM:615582
Distal Limb Deficiencies-Micrognathia Syndrome
High palate, Microdontia, Microretrognathia, Hypoplasia of the maxilla, Narrow mouth, Microglossi... ORPHA:1307
Campomelia, Cumming Type
Pancreatic cysts, Aplasia/Hypoplasia affecting the eye, Multicystic kidney dysplasia, Abnormal in... ORPHA:1318
Apert Syndrome
Dental malocclusion, Choanal stenosis, Mandibular prognathia, Narrow palate, Ventricular septal d... OMIM:101200
Jacobsen Syndrome
Multicystic kidney dysplasia, Ventricular septal defect, Abnormality of the anus, Ectopic anus, L... ORPHA:2308
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus OMIM:616521
Factor X Deficiency
Intracranial hemorrhage, Epistaxis, Gingival bleeding, Menorrhagia, Prolonged prothrombin time, P... OMIM:227600
Pagod Syndrome
Abnormal aortic morphology, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Hypoplastic l... ORPHA:991
Flat Face-Microstomia-Ear Anomaly Syndrome
Camptodactyly of finger, Underdeveloped nasal alae, Long philtrum, Wide nasal bridge, Micrognathi... ORPHA:1968
Familial Visceral Myopathy
Camptodactyly of finger, Vesicoureteral reflux, Aplasia/Hypoplasia of the abdominal wall musculat... ORPHA:2604
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Ventricular septal defect, Atrial septal defect OMIM:614249
Nablus Mask-Like Facial Syndrome
Retrognathia, High palate, Long philtrum, Joint contracture of the hand, Wide nasal bridge, Campt... OMIM:608156
Hemangioblastoma
Hydrocephalus, Neurogenic bladder ORPHA:252054
Transketolase Deficiency
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Increased level of rib... ORPHA:488618
Branchiootorenal Syndrome 1
Renal steatosis, Vesicoureteral reflux, High palate, Renal dysplasia, Renal malrotation, Microdon... OMIM:113650
Trisomy X
Renal hypoplasia/aplasia, Multicystic kidney dysplasia ORPHA:3375
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Patent ductus arteriosus, Abnormal aortic morphology, Bifid tongue, Micrognathia, Intestinal malr... ORPHA:2001
Giant Cell Arteritis
Abdominal aortic aneurysm, Hematuria, Glossitis, Recurrent pharyngitis, Pericarditis, Epistaxis, ... ORPHA:397
Roberts Syndrome
Knee flexion contracture, Wrist flexion contracture, Cleft upper lip, Underdeveloped nasal alae, ... ORPHA:3103
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Holoprosencephaly, Hydrocephalus, Aqueductal stenosis ORPHA:2182
Partial Deletion Of The Short Arm Of Chromosome 7
Retrognathia, Patent ductus arteriosus after birth at term, Submucous cleft lip, Hypospadias, Dep... ORPHA:261911
Glutaric Acidemia I
Lateral ventricle dilatation, Ketonuria, Macrocephaly, Hydrocephalus, Glutaric aciduria OMIM:231670
Optic Pathway Glioma
Hydrocephalus, Growth delay ORPHA:2086
Perlman Syndrome
Nephroblastoma, Everted upper lip vermilion, Wide nasal bridge, Renal hamartoma, Volvulus, Interr... OMIM:267000
Dystonia, Juvenile-Onset
Cleft palate, Cleft upper lip OMIM:607371
Interstitial Nephritis, Karyomegalic
Tubulointerstitial nephritis, Renal interstitial fibrosis, Renal tubular cyst, Glycosuria, Stage ... OMIM:614817
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Peroxisome Biogenesis Disorder 1A (Zellweger)
Patent ductus arteriosus, Aminoaciduria, High palate, Ventricular septal defect, Micrognathia, Ma... OMIM:214100
Proximal 16P11.2 Microdeletion Syndrome
Multicystic kidney dysplasia, Micrognathia, Pyloric stenosis, Abnormal aortic valve morphology, A... ORPHA:261197
Distal Monosomy 19P13.3
Pulmonary valve atresia, Ventricular septal defect, Keloids, Vaginal hernia, Short philtrum, Hypo... ORPHA:96129
Desmosterolosis
Patent ductus arteriosus, Joint contracture of the hand, Micrognathia, Gingival fibromatosis, Sho... OMIM:602398
Harel-Yoon Syndrome
Hypertrophic cardiomyopathy, Micrognathia, Mandibular prognathia, Short nose OMIM:617183
Acrodysostosis
Mandibular prognathia, Depressed nasal ridge, Wide nasal bridge, Delayed eruption of teeth, Short... ORPHA:950
Plasminogen Deficiency, Type I
Ventriculomegaly, Hydrocephalus, Macrocephaly, Nephritis, Nephrolithiasis, Dandy-Walker malformation OMIM:217090
Frontonasal Dysplasia 3
Underdeveloped nasal alae, Cleft palate, Microphthalmia, Wide nasal bridge OMIM:613456
Arthrogryposis And Ectodermal Dysplasia
Cleft upper lip, Joint contracture of the hand, Oligodontia, Camptodactyly, Orofacial cleft, Atyp... OMIM:601701
Fanconi Renotubular Syndrome 1
Aminoaciduria, Short stature, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Lacticaci... OMIM:134600
White-Kernohan Syndrome
Retrognathia, Underdeveloped nasal alae, Wide mouth, Hydroureter, Short nose, Thin upper lip verm... OMIM:619426
Chromosome 16P13.3 Duplication Syndrome
Wide nose, Ventricular septal defect, Long philtrum, Wide mouth, Wide nasal bridge, Microdontia, ... OMIM:613458
Radial Aplasia, X-Linked
Hydrocephalus, Penile hypospadias OMIM:312190
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Retrognathia, Dentinogenesis imperfecta, Periodontitis, Moderate albuminuria, Delayed eruption of... OMIM:619269
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Retrognathia, Flexion contracture, High palate, Ventricular septal defect, Long philtrum, Wide na... OMIM:617452
Autosomal Recessive Spondylocostal Dysostosis
Meningocele, Short stature, Macrocephaly, Spina bifida occulta, Abnormality of the ureter, Hyposp... ORPHA:2311
Filippi Syndrome
Underdeveloped nasal alae, Wide nose, Ventricular septal defect, Wide nasal bridge, Short philtru... ORPHA:3255
Chromosome 13Q14 Deletion Syndrome
Patent foramen ovale, High palate, Ventricular septal defect, Deep philtrum, Micrognathia, Everte... OMIM:613884
Papillorenal Syndrome
Vesicoureteral reflux, Multicystic kidney dysplasia, Stage 5 chronic kidney disease, Renal malrot... OMIM:120330
Jansen-De Vries Syndrome
Central diaphragmatic hernia, Ventricular septal defect, Wide mouth, Bicuspid aortic valve, Thin ... OMIM:617450
Adams-Oliver Syndrome 1
Cleft upper lip, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Hypoplas... OMIM:100300
Arterial Tortuosity Syndrome
Aortic root aneurysm, Femoral hernia, Vascular dilatation, Abnormal carotid artery morphology, Py... ORPHA:3342
Pelger-Huet Anomaly
Ventricular septal defect, Depressed nasal bridge, Median cleft palate, Gingival overgrowth, Umbi... OMIM:169400
Thauvin-Robinet-Faivre Syndrome
Nephroblastoma, Bifid ureter, Ventricular septal defect, Renal dysplasia, Renal malrotation, Mitr... OMIM:617107
Oculocerebral Hypopigmentation Syndrome, Cross Type
Aplasia/Hypoplasia affecting the eye, Microdontia, Short nose, Inguinal hernia, Abnormal palate m... ORPHA:2719
Hardikar Syndrome
Hypoplasia of the bladder, Cleft soft palate, Celiac disease, Pulmonary artery stenosis, Bilatera... OMIM:301068
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Aminoaciduria, Communicating hydrocephalus, Growth delay, Nephrocalcinosis, Cardiomyopathy OMIM:616084
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Pancreatic cysts, Multiple small medullary renal cysts, Hepatic cysts, Enlarged kidney, Polycysti... OMIM:263200
Sulfite Oxidase Deficiency, Isolated
Increased urinary sulfite, Decreased urinary sulfate, Sulfocysteinuria, Microcephaly OMIM:272300
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:163961
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Ventriculomegaly, Vascular ring, Macrocephaly, Hydrocephalus, Mitral regurgitation OMIM:603387
Tetrasomy 9P
Convex nasal ridge, Abnormal cardiac septum morphology, Renal dysplasia, Micrognathia, Bifid uvul... ORPHA:3310
Tyshchenko Syndrome
Narrow palate, Ventricular septal defect, High palate, Atrial septal defect, Cleft palate, High, ... OMIM:615102
Shprintzen Omphalocele Syndrome
Wide nasal bridge, Anal atresia, Short columella, Thin vermilion border, Omphalocele, Flared nost... OMIM:182210
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Enamel hypoplasia, Patent foramen ovale, Pierre-Robin sequence, Hypodontia, Oligodontia, Dental c... OMIM:619184
Polycystic Liver Disease 4 With Or Without Kidney Cysts
Renal cyst, Hepatic cysts OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Renal cyst, Hepatic cysts OMIM:617874
Autosomal Dominant Robinow Syndrome
Camptodactyly of finger, Bifid tongue, Wide nasal bridge, Micrognathia, Gingival overgrowth, Femo... ORPHA:3107
Craniodigital-Intellectual Disability Syndrome
Micrognathia, Narrow nasal bridge, Short nose ORPHA:1514
Aase-Smith Syndrome I
Cleft palate, Open mouth, Flexion contracture, Ventricular septal defect OMIM:147800
Branchiooculofacial Syndrome
Cleft upper lip, Short nasal septum, Anophthalmia, Lower lip pit, Micrognathia, Elbow flexion con... OMIM:113620
Craniofaciofrontodigital Syndrome
Abnormal cerebral vascular morphology, Pericardial effusion, Gingival overgrowth, Ventricular sep... ORPHA:363705
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Subvalvular aortic stenosis, Flexion contracture, Ischemic stroke, Cleft soft palate, Ascending a... OMIM:619503
Warburg Micro Syndrome 3
Flexion contracture, Narrow palate, Micrognathia, Short nose, Downturned corners of mouth, Microp... OMIM:614222
15Q11.2 Microdeletion Syndrome
Ventricular septal defect, Atrial septal defect, Coarctation of aorta, Abnormal palate morphology... ORPHA:261183
Genitourinary And/Or Brain Malformation Syndrome
Urogenital sinus anomaly, Aplasia of the nasal bone, Long philtrum, Jejunal atresia, Micrognathia... OMIM:618820
Neu-Laxova Syndrome 1
Patent ductus arteriosus, Patent foramen ovale, Cleft upper lip, Wide nose, Ventricular septal de... OMIM:256520
Prader-Willi Syndrome Due To Translocation
Micrognathia, Bifid uvula, Everted lower lip vermilion, Alveolar ridge overgrowth, Cleft palate, ... ORPHA:177907
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Ventriculomegaly, Short stature, Hydrocephalus, Nephronophthisis, Chronic kidney disease OMIM:615630
Wolf-Hirschhorn Syndrome
Abnormality of the philtrum, Cleft upper lip, Hernia, Abnormal cardiac septum morphology, Wide na... ORPHA:280
Agnathia-Otocephaly Complex
Wide nose, Mandibular aplasia, Micrognathia, Secundum atrial septal defect, Situs inversus totali... OMIM:202650
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome
Urogenital sinus anomaly, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Hydroureter, An... ORPHA:2973
Ventriculomegaly With Cystic Kidney Disease
Vascular dilatation, Ventriculomegaly, Renal corticomedullary cysts, Hydrocephalus, Renal insuffi... OMIM:219730
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Aminoaciduria, Methylmalonic aciduria OMIM:612073
Hemorrhagic Fever-Renal Syndrome
Hypotension, Acute tubulointerstitial nephritis, Shock, Glomerulonephritis, Palpitations, Oliguri... ORPHA:340
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To
Increased level of L-pyroglutamic acid in urine OMIM:231900
Molybdenum Cofactor Deficiency, Complementation Group A
Increased urinary taurine, Ventriculomegaly, Increased urinary thiosulfate, Macrocephaly, Absent ... OMIM:252150
Gomez-Lopez-Hernandez Syndrome
High palate, Short nose, Smooth philtrum, Anteverted nares, Thin vermilion border, Malar flattening OMIM:601853
Pfeiffer Syndrome
Choanal stenosis, Mandibular prognathia, High palate, Short nose, Hypoplasia of the maxilla, Depr... OMIM:101600
Nasu-Hakola Disease
Hydrocephalus, Ventriculomegaly ORPHA:2770
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Ventriculomegaly, Macrocephaly, Hydrocephalus, Microcephaly, Intraventricular hemorrhage OMIM:613603
Absent Eyebrows And Eyelashes With Mental Retardation
Convex nasal ridge, Short nose OMIM:200130
Periventricular Nodular Heterotopia 1
Patent ductus arteriosus, Stroke, Cerebral hemorrhage OMIM:300049
Heart Defects, Congenital, And Other Congenital Anomalies
Truncus arteriosus, Hypoplastic tricuspid valve, Microcolon, Pulmonary artery stenosis, Double ou... OMIM:600001
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Cleft palate, High palate, Hydronephrosis ORPHA:488613
Intellectual Developmental Disorder, X-Linked 98
Underdeveloped nasal alae, Urinary incontinence, Mandibular prognathia, Short philtrum, Short nos... OMIM:300912
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Tubulointerstitial nephritis, Short stature, Abnormality of the kidney, Hydrocephalus, Relative m... ORPHA:459061
Metatropic Dysplasia
Severe short stature, Hydrocephalus ORPHA:2635
Faciodigitogenital Syndrome, Autosomal Recessive
Dental malocclusion, High palate, Narrow palate, Wide mouth, Deep philtrum, Pollakisuria, Camptod... OMIM:227330
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hydrocephalus ORPHA:99947
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Vesicoureteral reflux, Renal dysplasia, Polycystic kidney dysplasia, Unilateral renal agenesis, A... ORPHA:2237
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, ... OMIM:613095
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydroureter, Hydronephrosis OMIM:618240
Autosomal Recessive Cutis Laxa Type 2, Classic Type
High palate, Long philtrum, Abnormal subcutaneous fat tissue distribution, Prominent nasolabial f... ORPHA:357074
Intellectual Developmental Disorder, Autosomal Dominant 36
Unilateral renal agenesis, Hydrocephalus, Ventriculomegaly, Microcephaly OMIM:616362
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Patent foramen ovale, High palate, Ventricular septal defect, Long philtrum, Bicuspid aortic valv... ORPHA:457279
Trisomy 10P
Retrognathia, High palate, Abnormality of the kidney, Abnormal lip morphology, Micrognathia, Camp... ORPHA:171929
Adams-Oliver Syndrome 2
Macrocephaly, Hydrocephalus, Microcephaly, Lateral ventricle dilatation OMIM:614219
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Widely spaced teeth, Advanced eruption of teeth, Short nose, Everted lower lip vermilion, Broad c... OMIM:617865
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Wide nose, Anophthalmia, Long philtrum, Cellulitis, Wide nasal bridge, Atrial septal defect, Micr... ORPHA:2526
Renpenning Syndrome 1
Wide nasal bridge, Micrognathia, Camptodactyly, Cleft palate, Ventricular septal defect, Atrial s... OMIM:309500
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Hypospadias, Long philtrum, Anophthalmia OMIM:615877
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Patent foramen ovale, Vesicoureteral reflux, High palate, Hyposmia, Inguinal hernia, Anteriorly p... OMIM:618653
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Flexion contracture, High palate, Wide nasal bridge, Short nose, Hypoplasia of the maxilla OMIM:218000
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
X-Linked Dominant Chondrodysplasia Punctata
Flexion contracture, High palate, Scarring alopecia of scalp, Depressed nasal bridge, Microphthal... ORPHA:35173
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Distal arthrogryposis, High palate, Deep philtrum, Micrognathia, Short nose, Depressed nasal brid... OMIM:619833
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:613153
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Aminoaciduria OMIM:609560
Arachnoid Cyst
Urinary incontinence, Encephalocele, Urinary bladder sphincter dysfunction, Hydrocephalus, Holopr... ORPHA:2356
Familial Afibrinogenemia
Epistaxis, Abnormal bleeding, Gingival bleeding, Cerebral hemorrhage ORPHA:98880
Intellectual Developmental Disorder, Autosomal Dominant 1
Retrognathia, Mandibular prognathia, Prominent nose, Depressed nasal ridge, Wide mouth, Widely sp... OMIM:156200
Endove Syndrome, Limb-Brain Type
Recurrent urinary tract infections, Neurogenic bladder, Umbilical hernia, Hydronephrosis OMIM:619218
Tyrosinemia Type 1
Generalized aminoaciduria ORPHA:882
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Ventriculomegaly, Hydrocephalus, Microcephaly, Occipital encephalocele,... ORPHA:370959
Dent Disease 1
Renal phosphate wasting, Aminoaciduria, Proximal tubulopathy, Short stature, Stage 5 chronic kidn... OMIM:300009
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Subvalvular aortic stenosis, Ventricular septal defect, Secundum atrial septal defect, Left ventr... OMIM:108900
Hypotonia, Infantile, With Psychomotor Retardation
Open mouth, Ventricular septal defect OMIM:616816
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Bulbous nose, Short nose, Thin upper lip vermilion, Downturned corners of mouth, Depressed nasal ... OMIM:618430
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Dilatation of the cerebral artery, Polycystic kidney dysplasia, Hepatic cysts OMIM:600666
Ogden Syndrome
Thick upper lip vermilion, Everted upper lip vermilion, Wide nasal bridge, Minimal subcutaneous f... OMIM:300855
Renal-Hepatic-Pancreatic Dysplasia 2
Truncus arteriosus, Enlarged kidney, Cystic renal dysplasia, Hypertrophic cardiomyopathy, Situs i... OMIM:615415
Sarcosinemia
Hypertrophic cardiomyopathy, Hypersarcosinuria, Pulmonic stenosis ORPHA:3129
Marshall Syndrome
Thick upper lip vermilion, Pierre-Robin sequence, Long philtrum, Macrodontia of permanent maxilla... OMIM:154780
Premature Aging Syndrome, Penttinen Type
Retrognathia, Convex nasal ridge, Aplasia of the nasal bone, Keloids, Delayed eruption of teeth, ... OMIM:601812
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Dental malocclusion, Contractures of the large joints, High palate, Deep philtrum, Micrognathia, ... ORPHA:329178
Fetal Gaucher Disease
Neonatal death, Intracranial hemorrhage, Stillbirth ORPHA:85212
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Widely spaced teeth, Microdontia, Atrial septal defect, Multiple bladder diverticula, Microphthal... ORPHA:2728
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glomerular filtration rate... OMIM:618061
Chromosome 17P13.1 Deletion Syndrome
Hydrocephalus OMIM:613776
Dermotrichic Syndrome
Aganglionic megacolon, Aminoaciduria, Depressed nasal bridge, Short nose ORPHA:99688
Cardiofaciocutaneous Syndrome
High palate, Long philtrum, Pulmonic stenosis, Submucous cleft hard palate, Atrial septal defect,... ORPHA:1340
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Mandibular prognathia, Ventricular septal defect, Long philtrum, Dilation of Virchow-Robin spaces... OMIM:300998
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hemolytic-uremic syndrome, Methylmalonic aciduria, Cystathioninuria, Hydrocephalus, Hematuria, Ne... OMIM:277400
Medulloblastoma
Progressive macrocephaly, Hydrocephalus, Cerebellar hemorrhage ORPHA:616
Bainbridge-Ropers Syndrome
Retrognathia, Underdeveloped nasal alae, Choanal stenosis, High palate, Wide mouth, Wide nasal br... OMIM:615485
Hyperprolinemia Type 2
Prolinuria, Increased urine alpha-ketoglutarate concentration, Abnormal cerebrospinal fluid morph... ORPHA:79101
Rhizomelic Dysplasia, Patterson-Lowry Type
Wide nose, Mandibular prognathia, Depressed nasal ridge, Short nose ORPHA:2831
Enlarged Parietal Foramina
Occipital encephalocele, Myelomeningocele, Venous malformation, Abnormal cerebral vein morphology ORPHA:60015
Cranioectodermal Dysplasia 2
Patent ductus arteriosus, Patent foramen ovale, Retrognathia, High palate, Wide nasal bridge, Wid... OMIM:613610
Coffin-Siris Syndrome 1
Conical tooth, Delayed eruption of teeth, Microdontia, Cleft palate, Gastric ulcer, Choanal atres... OMIM:135900
Krabbe Disease
Hydrocephalus, Increased CSF protein concentration OMIM:245200
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Retrognathia, Multicystic kidney dysplasia, Long philtrum, Intestinal pseudo-obstruction, Fetal m... ORPHA:73246
Histidinuria-Renal Tubular Defect Syndrome
Histidinuria, Ventriculomegaly, Impaired histidine renal tubular absorption ORPHA:2158
Epidermolysis Bullosa Simplex With Pyloric Atresia
Congenital pyloric atresia, Renal duplication, Flexion contracture, Aplasia of the bladder, Renal... ORPHA:158684
Bosma Arhinia Microphthalmia Syndrome
Paranasal sinus hypoplasia, Dental malocclusion, High palate, Aplasia of the nose, Inguinal herni... OMIM:603457
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Patent ductus arteriosus, Patent foramen ovale, Convex nasal ridge, Long philtrum, Ventricular se... OMIM:618870
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... ORPHA:276621
Wildervanck Syndrome
Meningocele ORPHA:3456
Rubinstein-Taybi Syndrome 1
Flexion contracture, Convex nasal ridge, Wide nasal bridge, Micrognathia, Aortic isthmus hypoplas... OMIM:180849
Prolidase Deficiency
High palate, Micrognathia, Short nose, Depressed nasal bridge, Concave nasal ridge, Hyperimidodip... OMIM:170100
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Patent ductus arteriosus, Double outlet right ventricle, Mitral atresia, Coarctation of aorta, Hy... OMIM:618164
Macrocephaly/Autism Syndrome
High palate, Long philtrum, Dilation of Virchow-Robin spaces, Short nose, Penile freckling, Depre... OMIM:605309
Pheochromocytoma--Islet Cell Tumor Syndrome
Positive regitine blocking test, Cerebral hemorrhage, Congestive heart failure, Episodic hyperten... OMIM:171420
Hereditary Xanthinuria
Uric acid nephrolithiasis, Crystalluria, Recurrent urinary tract infections, Acute kidney injury,... ORPHA:3467
Albers-Schönberg Osteopetrosis
Macrocephaly, Hydrocephalus, Short stature ORPHA:53
Johnson Neuroectodermal Syndrome
Everted lower lip vermilion, Anosmia, Carious teeth, Cleft palate, Bulbous nose, Tetralogy of Fal... ORPHA:2316
Wolfram Syndrome, Mitochondrial Form
Hydroureter, Hydronephrosis OMIM:598500
Multiple Sulfatase Deficiency
Short stature, Macrocephaly, Hydrocephalus, Mucopolysacchariduria, Microcephaly ORPHA:585
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Abnormally large globe, High palate, Long philtrum, Wide nasal bridge, Micrognathia, Optic nerve ... OMIM:300749
Familial Multiple Nevi Flammei
Pulmonary embolism, Arteriovenous malformation, Intracranial hemorrhage, Venous insufficiency, Ar... ORPHA:624
Monosomy 9P
Hernia, High palate, Long philtrum, Micrognathia, Choanal atresia, Short nose, Congenital diaphra... ORPHA:261112
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Renal tubular atrophy, Patent foramen ovale, Aminoaciduria, Ventricular septal defect, Renal tubu... OMIM:208085
Basal Cell Nevus Syndrome 1
Hamartomatous stomach polyps, Cleft upper lip, Odontogenic keratocysts of the jaw, Mandibular pro... OMIM:109400
Amelocerebrohypohidrotic Syndrome
Hydrocephalus, Short stature ORPHA:1946
Coenzyme Q10 Deficiency, Primary, 7
Patent ductus arteriosus, Hypertrophic cardiomyopathy, Hypoplastic left heart, Ventricular septal... OMIM:616276
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Wide nasal bridge, Urethral stricture, Ventricular septal defect, Atrial septal defect, Short nos... OMIM:619522
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Short nose, Hypospadias, Depressed nasal bridge, Micropenis, Hypercalciuria OMIM:614732
Left Ventricular Noncompaction 1
Patent ductus arteriosus, Ventricular septal defect, Left ventricular hypertrophy, Noncompaction ... OMIM:604169
Monosomy 9Q22.3
Nephroblastoma, Odontogenic keratocysts of the jaw, Long philtrum, Delayed eruption of teeth, Sho... ORPHA:77301
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
19P13.3 Microduplication Syndrome
Underdeveloped nasal alae, Prominent nose, Ventricular septal defect, Micrognathia, Short philtru... ORPHA:447980
Cooper-Jabs Syndrome
Camptodactyly of finger, Ventricular septal defect, Congenital diaphragmatic hernia, Anteriorly p... ORPHA:1488
Multiple Mitochondrial Dysfunctions Syndrome 1
Alpha-aminoadipic aciduria, Pulmonary arterial hypertension, Increased urine alpha-ketoglutarate ... OMIM:605711
Brachytelephalangic Chondrodysplasia Punctata
Patent ductus arteriosus, Ventricular septal defect, Depressed nasal ridge, Optic disc hypoplasia... ORPHA:79345
Joubert Syndrome 20
Renal cyst OMIM:614970
Transaldolase Deficiency
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Wide mouth, Deep philt... OMIM:606003
Distal 22Q11.2 Microdeletion Syndrome
Camptodactyly of finger, Underdeveloped nasal alae, Truncus arteriosus, Ventricular septal defect... ORPHA:261330
Xanthinuria, Type I
Xanthinuria, Pyelonephritis, Xanthine nephrolithiasis, Hydronephrosis OMIM:278300
Aorta Coarctation
Patent ductus arteriosus, Aortic valve atresia, Perimembranous ventricular septal defect, Bicuspi... ORPHA:1457
Dysmorphism-Short Stature-Deafness-Disorder Of Sex Development Syndrome
Patent ductus arteriosus, Cleft soft palate, Wide nasal bridge, Micrognathia, Short nose, Submuco... ORPHA:2282
Holoprosencephaly 2
Aplasia of the nasal bone, Proboscis, Absent nasal septal cartilage, Bifid uvula, Submucous cleft... OMIM:157170
Hb Bart'S Hydrops Fetalis
Pericarditis, Hydrocephalus, Congestive heart failure ORPHA:163596
Alkuraya-Kucinskas Syndrome
High palate, Pericardial effusion, Micrognathia, Camptodactyly, Arthrogryposis multiplex congenit... OMIM:617822
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Patent ductus arteriosus, Ventriculomegaly, Spina bifida, Coarctation of aorta, Anomalous pulmona... ORPHA:1120
Marshall-Smith Syndrome
Retrognathia, Short nose, Protruding tongue, Anteverted nares, Open mouth, Gingival overgrowth, C... ORPHA:561
Carbamoyl-Phosphate Synthetase 1 Deficiency
Aminoaciduria ORPHA:147
Combined Oxidative Phosphorylation Deficiency 14
Aminoaciduria, Ventriculomegaly, Growth delay, Microcephaly, Increased CSF lactate OMIM:614946
16P11.2P12.2 Microdeletion Syndrome
Camptodactyly of finger, Absent nasal bridge, Bulbous nose, Microretrognathia, Short nose, Anteve... ORPHA:261211
Odontochondrodysplasia 1
Dentinogenesis imperfecta, Long philtrum, Delayed eruption of teeth, Polycystic kidney dysplasia,... OMIM:184260
Ohdo Syndrome, Sbbys Variant
Microdontia, Micrognathia, Dilated cardiomyopathy, Thin upper lip vermilion, Hypospadias, Depress... OMIM:603736
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Abnormal renal cortex morphology, Retinal hemorrhage, Vitreous hemorrhage, Cerebral hemorrhage, A... ORPHA:464321
Gapo Syndrome
Eruption failure, Long philtrum, Thick lower lip vermilion, Micrognathia, Retinal arteriolar tort... OMIM:230740
Fibular Hemimelia
Thoracoabdominal wall defect, Abnormal heart morphology, Anophthalmia, Renal dysplasia ORPHA:93323
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Ventricular septal defect, Polycystic kidney dysplasia, Atrial septal defect, Median cleft lip, I... OMIM:263520
19P13.13 Microdeletion Syndrome
High palate, Macroglossia, Optic nerve hypoplasia, Short nose, Thin upper lip vermilion, Depresse... ORPHA:357001
Phosphoribosylaminoimidazole Carboxylase Deficiency
Choanal stenosis, Esophageal atresia, Short nose, Tracheoesophageal fistula, Bilateral choanal at... OMIM:619859
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Retrognathia, Wide nose, High palate, Ventricular septal defect, Long philtrum, Atrial septal def... ORPHA:505237
Acquired Purpura Fulminans
Macular purpura, Intracranial hemorrhage, Internal hemorrhage, Shock, Prolonged prothrombin time ORPHA:49566
Joubert Syndrome With Oculorenal Defect
Encephalocele, Biparietal narrowing, Hydrocephalus, Nephropathy, Renal insufficiency ORPHA:2318
Molybdenum Cofactor Deficiency, Complementation Group B
Increased urinary taurine, Ventriculomegaly, Macrocephaly, Xanthine nephrolithiasis, Increased ur... OMIM:252160
Arachnoiditis
Hydrocephalus, Urinary bladder sphincter dysfunction ORPHA:137817
Schinzel-Giedion Syndrome
Delayed eruption of teeth, Micrognathia, Camptodactyly, Abnormality of the ureter, Nephrolithiasi... ORPHA:798
Adams-Oliver Syndrome 6
Esophageal varix, Renal hypoplasia, Ventricular septal defect, Truncus arteriosus OMIM:616589
Osteoglophonic Dysplasia
Eruption failure, Mandibular prognathia, High palate, Long philtrum, Abnormal nasopharynx morphol... OMIM:166250
Fanconi Renotubular Syndrome 5
Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Hypertension, Proteinuria, Tubulointer... OMIM:618913
Arterial Tortuosity Syndrome
Aortic tortuosity, Ventricular hypertrophy, Aortic root aneurysm, Flexion contracture, High palat... OMIM:208050
Nail-Patella Syndrome
Cleft upper lip, Nephrotic syndrome, Hematuria, Glomerulonephritis, Proteinuria, Cleft palate, Re... OMIM:161200
Glutathione Synthetase Deficiency
Increased level of L-pyroglutamic acid in urine OMIM:266130
Neonatal Lupus Erythematosus
Macrocephaly, Hydrocephalus, Abnormal bleeding, Dilated cardiomyopathy, Heart block, Abnormal ele... ORPHA:398124
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Thick upper lip vermilion, Ventricular septal defect, Wide nasal bridge, Short lingual frenulum, ... OMIM:617360
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Ventriculomegaly, Hydrocephalus, Microcephaly, Stroke, Homocystinuria ORPHA:395
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Patent ductus arteriosus, Atrioventricular canal defect, Hypodontia, Supernumerary tooth, Aplasia... OMIM:617088
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Aminoaciduria, Renal tubular acidosis, Glycosuria, Nephropathy, Microcephaly, Nephrocalcinosis, P... OMIM:613404
Glutamate-Cysteine Ligase Deficiency
Aminoaciduria ORPHA:33574
Glycine Encephalopathy
Hyperglycinuria OMIM:605899
Leukoencephalopathy With Calcifications And Cysts
Stroke, Cerebral hemorrhage ORPHA:542310
Jacobsen Syndrome
Flexion contracture, Ventricular septal defect, Macular hypoplasia, Micrognathia, Pyloric stenosi... OMIM:147791
Endove Syndrome, Limb-Only Type
Vesicoureteral reflux, Umbilical hernia, Hydronephrosis OMIM:619217
Peroxisome Biogenesis Disorder 2A (Zellweger)
Aminoaciduria, Joint contracture of the hand, Micrognathia, Polycystic kidney dysplasia, Camptoda... OMIM:214110
Mucopolysaccharidosis, Type Ii
Short stature, Dermatan sulfate excretion in urine, Hydrocephalus, Macrocephaly, Congestive heart... OMIM:309900
Capillary Malformation-Arteriovenous Malformation
Telangiectasia, Cerebral ischemia, Neurogenic bladder, Arteriovenous malformation, Cerebral arter... ORPHA:137667
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Natal tooth, Volvulus, Micrognathia, Short nose, Depressed nasal bridge, Ankle flexion contracture OMIM:617802
Fanconi Renotubular Syndrome 2
Renal phosphate wasting, Proximal tubulopathy, Short stature, Glycosuria, Generalized aminoacidur... OMIM:613388
Leigh Syndrome With Nephrotic Syndrome
Tubulointerstitial nephritis, Renal tubular acidosis, Nephrotic syndrome, Renal cyst, Cardiomegal... ORPHA:255249
Ablepharon-Macrostomia Syndrome
Short upper lip, Ventral hernia, Wide mouth, Abnormal nasal morphology, Camptodactyly, Anteriorly... OMIM:200110
Stickler Syndrome
Cleft upper lip, Long philtrum, Depressed nasal ridge, Advanced eruption of teeth, Mitral valve p... ORPHA:828
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Patent ductus arteriosus, Depressed nasal bridge, Anteverted nares, Short nose OMIM:618961
Sotos Syndrome
Patent ductus arteriosus, Mandibular prognathia, Narrow palate, Ventricular septal defect, High p... OMIM:117550
Joubert Syndrome With Renal Defect
Encephalocele, Biparietal narrowing, Hydrocephalus, Nephropathy, Renal insufficiency ORPHA:220497
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hydrocephalus OMIM:601794
Aortic Arch Interruption
Patent ductus arteriosus, Double outlet right ventricle, Aortic valve atresia, Abnormal ascending... ORPHA:2299
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma OMIM:260500
Mosaic Variegated Aneuploidy Syndrome 2
Subvalvular aortic stenosis, Ventricular septal defect, Micrognathia, Atrial septal defect, Coarc... OMIM:614114
Kaufman Oculocerebrofacial Syndrome
High palate, Ventricular septal defect, Micrognathia, Atrial septal defect, Coarctation of aorta,... OMIM:244450
22Q11.2 Deletion Syndrome
Truncus arteriosus, Wide nasal bridge, Micrognathia, Retinal arteriolar tortuosity, Abnormal aort... ORPHA:567
Digeorge Syndrome
Truncus arteriosus, Renal dysplasia, Micrognathia, Bifid uvula, Recurrent sinusitis, Ovarian cyst... OMIM:188400
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Vesicoureteral reflux, Diastasis recti, Renal cortical cysts, Long philtrum, Micrognathia, Inguin... OMIM:618548
Omphalocele Syndrome, Shprintzen-Goldberg Type
Anal atresia, Thin upper lip vermilion, Downturned corners of mouth, Short columella, Omphalocele ORPHA:3164
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Macrocephaly, Hydrocephalus ORPHA:2180
Peho Syndrome
Flexion contracture, Abnormal upper lip morphology, Short nose, Abnormal palate morphology, Antev... ORPHA:2836
Nephronophthisis 9
Nephronophthisis, Renal cortical microcysts, Stage 5 chronic kidney disease OMIM:613824
Wolcott-Rallison Syndrome
Double outlet right ventricle, Renal insufficiency, Atrial septal defect, Chronic kidney disease ORPHA:1667
Brachydactyly, Type B1
Ventricular septal defect, Joint contracture of the hand, Camptodactyly, Delayed eruption of perm... OMIM:113000
Sialidosis Type 1
Aminoaciduria, Short stature, Urinary excretion of sialylated oligosaccharides, Increased urinary... ORPHA:812
Familial Hyperaldosteronism Type Iii
Intracranial hemorrhage, Hypertension, Epistaxis, Prolonged QT interval, Hypercalciuria ORPHA:251274
Cardiofacioneurodevelopmental Syndrome
Atrioventricular canal defect, Ventricular septal defect, Micrognathia, Camptodactyly, Cleft lip,... OMIM:619123
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cleft upper lip, Renal dysplasia, Micrognathia, Anal atresia, Optic nerve hypoplasia, Buphthalmos... OMIM:236670
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Ischemic stroke, Mucoid extracellular matrix accumulation, Ascending aortic dissection, Abnormal ... ORPHA:91387
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Flexion contracture, Ventricular septal defect, Long philtrum, Wide nasal bridge, Optic disc hypo... OMIM:619306
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Urinary incontinence, Eruption failure, High palate, Long philtrum, Micrognathia, Short nose, Com... ORPHA:476126
Thanatophoric Dysplasia, Type I
Hydrocephalus, Macrocephaly, Disproportionate short-limb short stature, Lethal short-limbed short... OMIM:187600
Thanatophoric Dysplasia Type 1
Patent ductus arteriosus, Ventriculomegaly, Abnormality of the kidney, Macrocephaly, Hydrocephalu... ORPHA:1860
Thoraco-Abdominal Enteric Duplication
Meningocele ORPHA:1759
Fanconi Anemia, Complementation Group B
Patent ductus arteriosus, Ventriculomegaly, Hydrocephalus, Renal agenesis, Coarctation of aorta, ... OMIM:300514
Primary Non-Essential Cutis Verticis Gyrata
Ventricular septal defect, Atrial septal defect, Keloids ORPHA:357225
Pterygium Colli, Isolated
Short nose OMIM:177990
Rere-Related Neurodevelopmental Syndrome
Vesicoureteral reflux, Ventricular septal defect, Micrognathia, Hypospadias, Abnormal heart morph... ORPHA:494344
Spondylo-Ocular Syndrome
Long philtrum, Ventricular septal defect, Microphthalmia, Thin vermilion border, Aplasia/Hypoplas... ORPHA:85194
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Pulmonary arterial hypertension, Urinary incontinence, Rhizomelia, Hydrocephalus, Macrocephaly, C... OMIM:616482
Mosaic Variegated Aneuploidy Syndrome
Subvalvular aortic stenosis, Stomach cancer, Abnormal aortic morphology, Nephroblastoma, Multicys... ORPHA:1052
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Retrognathia, Ventricular septal defect, Widely spaced teeth, Camptodactyly, Dental crowding, Atr... OMIM:301044
19Q13.11 Microdeletion Syndrome
Retrognathia, Underdeveloped nasal alae, Ventricular septal defect, Wide mouth, Broad columella, ... ORPHA:217346
Desbuquois Syndrome
Camptodactyly of finger, Aplasia/Hypoplasia of the abdominal wall musculature, Ventricular septal... ORPHA:1425
Cystinosis
Aminoaciduria, Short stature, Delayed puberty, Nephropathy, Proteinuria, Portal hypertension, Ren... ORPHA:213
Cystathioninuria
Nephrolithiasis, Cystathioninuria ORPHA:212
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cleft upper lip, Macroglossia, Buphthalmos, Microphthalmia, Cleft palate, Congenital contracture OMIM:613150
Cutis Laxa, Autosomal Recessive, Type Iib
Hydrocephalus, Bruising susceptibility, Prominent superficial veins, Microcephaly, Intrauterine g... OMIM:612940
Canavan Disease
Increased CSF N-acetylaspartic acid concentration, Elevated urinary N-acetylaspartic acid level, ... OMIM:271900
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
High palate, Wide mouth, Short nose, Thin upper lip vermilion, Downturned corners of mouth, Depre... OMIM:618590
King-Denborough Syndrome
High palate, Ventricular septal defect, Deep philtrum, Broad nasal tip, Low hanging columella OMIM:619542
Alg3-Cdg
Neural tube defect, Coarctation of the descending aortic arch, Microcephaly, Dandy-Walker malform... ORPHA:79321
Meckel Syndrome 14
Retrognathia, Micrognathia, Polycystic kidney dysplasia, Microretrognathia, Microphthalmia, Antev... OMIM:619879
Ellis Van Creveld Syndrome
Atrioventricular canal defect, Ventricular septal defect, Delayed eruption of teeth, Renal hypopl... ORPHA:289
Ritscher-Schinzel Syndrome 2
Patent ductus arteriosus, Ventricular septal defect, Short philtrum, Camptodactyly, Atrial septal... OMIM:300963
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Exencephaly, Encephalocele, Epispadias, Hypospadias, Abnormal penis morphology ORPHA:2211
Arnold-Chiari Malformation Type Ii
Meningocele, Myelomeningocele, Aqueductal stenosis, Ventriculomegaly, Neurogenic bladder, Hydroce... ORPHA:1136
Chondrodysplasia Punctata 1, X-Linked Recessive
Depressed nasal bridge, Short nasal septum, Anosmia, Short nose OMIM:302950
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus OMIM:600559
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Macrocephaly, Communicating hydrocephalus, Ventriculomegaly, Colpocephaly OMIM:615219
Culler-Jones Syndrome
Cleft palate, Cleft upper lip, Micropenis OMIM:615849
Cerebrocostomandibular Syndrome
Multicystic kidney dysplasia, Ventricular septal defect, Micrognathia, Short hard palate, Glossop... ORPHA:1393
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Convex nasal ridge, Abnormality of the urinary system, Nephrolithiasis, Talon cusp, Vesicouretera... ORPHA:353281
Congenital Sialidosis Type 2
Telangiectasia, Cherry red spot of the macula, Petechiae, Abnormal EKG, Abnormality of the kidney... ORPHA:93400
Joubert Syndrome 7
Nephronophthisis, Renal cyst, Stage 5 chronic kidney disease OMIM:611560
Pallister-Killian Syndrome
Flexion contracture, Wide nasal bridge, Delayed eruption of teeth, Renal dysplasia, Micrognathia,... OMIM:601803
Zttk Syndrome
Patent ductus arteriosus, Flexion contracture, High palate, Ventricular septal defect, Wide nasal... OMIM:617140
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus OMIM:615181
L1 Syndrome
Hydrocephalus, Aqueductal stenosis ORPHA:275543
Dengue Fever
Hypotension, Petechiae, Cerebral hemorrhage, Bruising susceptibility, Epistaxis, Gingival bleedin... ORPHA:99828
Tetrasomy 5P
Aplasia/Hypoplasia of the abdominal wall musculature, High palate, Long philtrum, Wide nasal brid... ORPHA:3309
Congenital Disorder Of Glycosylation, Type Ib
Lymphangiectasis, Proximal tubulopathy, Villous atrophy, Steatorrhea, Renal cyst, Protein-losing ... OMIM:602579
Diets-Jongmans Syndrome
Ventricular septal defect, Wide mouth, Duodenal atresia, Inguinal hernia, Congenital diaphragmati... OMIM:618846
Eec Syndrome
Vesicoureteral reflux, Hydronephrosis, Urethral atresia, Renal hypoplasia/aplasia, Microdontia, T... ORPHA:1896
Wolfram Syndrome 1
Cardiomyopathy, Neurogenic bladder, Hydroureter, Stroke-like episode, Hydronephrosis OMIM:222300
Congenital Disorder Of Glycosylation, Type Ia
Proximal tubulopathy, Flexion contracture, Villous atrophy, Abnormal subcutaneous fat tissue dist... OMIM:212065
Sacral Defect With Anterior Meningocele
Meningocele, Myelomeningocele, Urinary retention, Neurogenic bladder, Hydrocephalus, Myeloschisis... OMIM:600145
Congenital Disorder Of Glycosylation, Type Iia
Retrognathia, Ventricular septal defect, Wide mouth, Prominent nasal bridge, Diastema, Everted lo... OMIM:212066
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Aminoaciduria, Tetralogy of Fallot OMIM:250620
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Flexion contracture, Hypodontia, Short nose, Inguinal hernia, Narrow nasal bridge ORPHA:544503
Keutel Syndrome
Underdeveloped nasal alae, Wide nose, Ventricular septal defect, Recurrent sinusitis, Depressed n... ORPHA:85202
Lathosterolosis
High palate, Long philtrum, Micrognathia, Hypoplasia of penis, Short nose, Downturned corners of ... ORPHA:46059
Cousin Syndrome
Wrist flexion contracture, Joint contracture of the hand, Micrognathia, Camptodactyly, Microgloss... OMIM:260660
Short Rib-Polydactyly Syndrome
Urogenital sinus anomaly, Hepatic cysts, Abnormality of the kidney, Polycystic kidney dysplasia, ... ORPHA:1505
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Patent ductus arteriosus, Patent foramen ovale, Retrognathia, High palate, Ventricular septal def... OMIM:620113
Muenke Syndrome
Macrocephaly, Hydrocephalus ORPHA:53271
Hyperparathyroidism 2 With Jaw Tumors
Nephroblastoma, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Renal cortical adeno... OMIM:145001
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Cerebellar hemorrhage, Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Methylmaloni... OMIM:251000
Alzahrani-Kuwahara Syndrome
Patent foramen ovale, Prominent nose, Coronary sinus enlargement, Ventricular septal defect, Long... OMIM:619268
Atrial Septal Defect 1
Subvalvular aortic stenosis, Ventricular septal defect, Tetralogy of Fallot with pulmonary atresi... OMIM:108800
Tenorio Syndrome
Ventriculomegaly, Macrocephaly, Hydrocephalus, Raynaud phenomenon, Syncope, Enuresis OMIM:616260
Frontometaphyseal Dysplasia
Camptodactyly of finger, Wrist flexion contracture, Joint contracture of the hand, Keloids, Wide ... ORPHA:1826
Vater/Vacterl Association
Patent ductus arteriosus, Vesicoureteral reflux, Abnormal nasopharynx morphology, Ventricular sep... OMIM:192350
Cockayne Syndrome Type 3
Aortic root aneurysm, Enamel hypoplasia, Hydronephrosis, Flexion contracture, Renal insufficiency... ORPHA:90324
Syndromic Diarrhea
Patent ductus arteriosus, Ventricular septal defect, Villous atrophy, Wide nasal bridge, Bicuspid... ORPHA:84064
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Retrognathia, Underdeveloped nasal alae, Choanal stenosis, Wide nasal bridge, Perimembranous vent... ORPHA:83617
Multiple Acyl-Coa Dehydrogenase Deficiency
Proximal tubulopathy, Renal cortical cysts, Glycosuria, Polycystic kidney dysplasia, Macrocephaly... OMIM:231680
Fibrochondrogenesis 2
Micrognathia, Malar flattening, Anteverted nares, Short nose OMIM:614524
Hartsfield Syndrome
Wide nose, Cleft upper lip, Hypoplasia of the frontal bone, Median cleft lip, Hypospadias, Cleft ... OMIM:615465
Hypotonia-Cystinuria Syndrome
Nephrolithiasis, Growth delay, Cystinuria ORPHA:163690
X-Linked Lissencephaly With Abnormal Genitalia
Patent ductus arteriosus, Ventricular septal defect, Malabsorption, Aganglionic megacolon, Microg... ORPHA:452
Lateral Meningocele Syndrome
High palate, Ventricular septal defect, Micrognathia, Craniofacial hyperostosis, Inguinal hernia,... ORPHA:2789
Myopathy, Centronuclear, X-Linked
Macrocephaly, Hydrocephalus, Dandy-Walker malformation OMIM:310400
19P13.12 Microdeletion Syndrome
Ventricular septal defect, Long philtrum, Hypodontia, Atrial septal defect, Hypospadias, Narrow n... ORPHA:254346
Ayme-Gripp Syndrome
Mandibular prognathia, Long philtrum, Wide nasal bridge, Craniofacial asymmetry, Camptodactyly, S... OMIM:601088
Galactosemia I
Aminoaciduria, Increased level of galactitol in urine, Galactosuria, Albuminuria OMIM:230400
Spondylocarpotarsal Synostosis Syndrome
Enamel hypoplasia, Failure of eruption of permanent teeth, Short nose, Renal cyst, Inguinal herni... OMIM:272460
Congenital Heart Defects, Multiple Types, 3
Persistent left superior vena cava, Tetralogy of Fallot, Abnormal heart morphology, Atrial septal... OMIM:614954
Rabson-Mendenhall Syndrome
Wide nose, Mandibular prognathia, High palate, Ventricular septal defect, Nephrocalcinosis, Reduc... ORPHA:769
16Q24.3 Microdeletion Syndrome
High palate, Ventricular septal defect, Long philtrum, Wide mouth, Micrognathia, Dilated cardiomy... ORPHA:261250
Gaucher Disease, Perinatal Lethal
Retrognathia, Everted upper lip vermilion, Micrognathia, Short nose, Everted lower lip vermilion,... OMIM:608013
Fanconi Anemia, Complementation Group I
Patent foramen ovale, Vesicoureteral reflux, Ventricular septal defect, Atrial septal defect, Opt... OMIM:609053
Nephronophthisis 2
Stage 5 chronic kidney disease, Enlarged kidney, Absence of renal corticomedullary differentiatio... OMIM:602088
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Wide nasal bridge, Renal dysplasia, Prominent nasolabial fold, Abnormality of the abdominal wall,... ORPHA:480880
Goldberg-Shprintzen Syndrome
Vesicoureteral reflux, Ventricular septal defect, Wide nasal bridge, Aganglionic megacolon, Oligo... OMIM:609460
Methionine Malabsorption Syndrome
Aminoaciduria OMIM:250900
Smith-Lemli-Opitz Syndrome
Wide nasal bridge, Micrognathia, Bifid uvula, Hypertrophic cardiomyopathy, Cleft palate, Ventricu... OMIM:270400
Renal Coloboma Syndrome
Vesicoureteral reflux, Multicystic kidney dysplasia, Renal dysplasia, Renal hypoplasia, Renal ins... ORPHA:1475
Noonan Syndrome 12
Anteriorly placed anus, Tetralogy of Fallot, Ventricular septal defect OMIM:618624
Short Stature-Micrognathia Syndrome
Retrognathia, High palate, Ventricular septal defect, Micrognathia, Penoscrotal hypospadias, Clef... OMIM:617164
Cohen Syndrome
Aplasia/Hypoplasia of the tongue, Ventricular septal defect, High, narrow palate, Prominent nasal... ORPHA:193
Otopalatodigital Syndrome, Type Ii
Micrognathia, Elbow contracture, Atrial septal defect, Hypospadias, Narrow mouth, Depressed nasal... OMIM:304120
B4Galt1-Cdg
Hydrocephalus, Abnormal bleeding, Dandy-Walker malformation ORPHA:79332
Steinfeld Syndrome
Aplasia of the nose, Unilateral renal dysplasia, Bifid uvula, Median cleft lip and palate, Abnorm... OMIM:184705
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Aganglionic megacolon, Ventricular septal defect OMIM:235750
Arboleda-Tham Syndrome
Secundum atrial septal defect, Cleft palate, Ventricular septal defect, Atrial septal defect, Pro... OMIM:616268
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Nasofrontal encephalocele, Hydrocephalus, Ventriculomegaly OMIM:614195
Larsen Syndrome
Cleft upper lip, Ventricular septal defect, Hypodontia, Aortic aneurysm, Atrial septal defect, De... OMIM:150250
Cerebral Amyloid Angiopathy, App-Related
Cerebellar hemorrhage, Tortuous cerebral arteries, Cerebral ischemia, Stroke, Subarachnoid hemorr... OMIM:605714
Sifrim-Hitz-Weiss Syndrome
Patent ductus arteriosus, Vesicoureteral reflux, Ventricular septal defect, Bifid uvula, Atrial s... OMIM:617159
Stormorken Syndrome
Short stature, Hematuria, Abnormal bleeding, Bruising susceptibility, Epistaxis, Stroke-like epis... OMIM:185070
Leber Congenital Amaurosis 1
Hyperthreoninuria, Growth delay OMIM:204000
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Aminoaciduria, Glycosuria, Hyperphosphaturia, Hypertrophic cardiomyopathy, Increased CSF lactate,... ORPHA:436271
Gm1 Gangliosidosis
Camptodactyly of finger, Patent ductus arteriosus, Aplasia/Hypoplasia of the abdominal wall muscu... ORPHA:354
Multiple Sulfatase Deficiency
Ventriculomegaly, Short stature, Hydrocephalus, Mucopolysacchariduria, Increased CSF protein conc... OMIM:272200
Campomelic Dysplasia
Micrognathia, Depressed nasal bridge, Cleft palate, Abnormality of the sense of smell, Hydronephr... ORPHA:140
Nijmegen Breakage Syndrome
Retrognathia, Non-midline cleft lip, Convex nasal ridge, Prominent nose, Pollakisuria, Deep philt... ORPHA:647
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Pancreatic cysts, High palate, Wide mouth, Widely spaced teeth, Renal dysplasia, Microdontia, Sta... OMIM:266920
Autosomal Dominant Coarctation Of Aorta
Patent ductus arteriosus, Aortic arch aneurysm, Ventricular septal defect, Abnormal aortic arch m... ORPHA:1455
Mucopolysaccharidosis, Type Vii
Cardiomyopathy, Short stature, Dermatan sulfate excretion in urine, Hydrocephalus, Macrocephaly, ... OMIM:253220
Glutathionuria
Urinary incontinence, Glutathionuria OMIM:231950
Peters-Plus Syndrome
Short lingual frenulum, Micrognathia, Conical incisor, Cleft palate, Ventricular septal defect, A... OMIM:261540
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Pulmonary arterial hypertension, Intracranial hemorrhage, Hypertension, Epistaxis, Second degree ... ORPHA:369929
Intellectual Developmental Disorder, Autosomal Dominant 53
Ventricular septal defect, Wide mouth, Intestinal malrotation, Duodenal atresia, Micropenis, Hydr... OMIM:617798
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Choanal stenosis, Multicystic kidney dysplasia, Renal dysplasia, Aganglionic megacolon, Renal age... OMIM:308205
Microphthalmia, Syndromic 1
Cleft upper lip, Tooth malposition, High palate, Anophthalmia, Joint contracture of the hand, Age... OMIM:309800
Costello Syndrome
Narrow palate, Ventricular septal defect, Thick lower lip vermilion, Mitral valve prolapse, Macro... ORPHA:3071
Autoerythrocyte Sensitization Syndrome
Hematuria, Intracranial hemorrhage, Bruising susceptibility, Ecchymosis, Epistaxis, Oral cavity b... ORPHA:324636
Extracranial Carotid Artery Aneurysm
Cerebral ischemia, Atherosclerosis, Arterial fibromuscular dysplasia, Arteritis, Hypertension, To... ORPHA:494424
Aicardi Syndrome
Multiple lipomas, Cleft upper lip, Malabsorption, Short philtrum, Prominence of the premaxilla, I... ORPHA:50
Chromosome 1P36 Deletion Syndrome, Distal
Camptodactyly of finger, Abnormality of the anus, Wide nasal bridge, Bifid uvula, Camptodactyly, ... OMIM:607872
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Cerebral hemorrhage, Abnormal bleeding, Bruising susceptibility, Ecchymosis, Epistaxis, Prolonged... OMIM:277450
Deafness-Lymphedema-Leukemia Syndrome
Prolonged bleeding time, Intracranial hemorrhage, Bruising susceptibility ORPHA:3226
Roberts-Sc Phocomelia Syndrome
Wrist flexion contracture, Wide nasal bridge, Micrognathia, Elbow flexion contracture, Long penis... OMIM:268300
Grange Syndrome
Patent ductus arteriosus, Ventricular septal defect, Arterial stenosis ORPHA:79094
Cardiofaciocutaneous Syndrome 3
Ventricular septal defect, Wide mouth, Atrial septal defect, Hypertrophic cardiomyopathy, Pulmoni... OMIM:615279
Oculocerebrorenal Syndrome Of Lowe
Gingivitis, Glomerulopathy, Aminoaciduria, Delayed eruption of teeth, Micrognathia, Taurodontia, ... ORPHA:534
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus ORPHA:93262
Ctcf-Related Neurodevelopmental Disorder
Patent ductus arteriosus, Long philtrum, Macrodontia of permanent maxillary central incisor, Micr... ORPHA:363611
D-Glyceric Aciduria
Patent ductus arteriosus, Aminoaciduria, Growth delay, Microcephaly, Bradycardia, Micropenis OMIM:220120
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Aminoaciduria, Umbilical hernia, Ketonuria OMIM:614520
Hereditary Pheochromocytoma-Paraganglioma
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... ORPHA:29072
Dent Disease
Renal tubular atrophy, Aminoaciduria, Non-acidotic proximal tubulopathy, Proximal tubulopathy, Re... ORPHA:1652
Desbuquois Dysplasia 1
Long philtrum, Microretrognathia, Short nose, Depressed nasal bridge, Narrow mouth, Concave nasal... OMIM:251450
Menkes Disease
Vascular dilatation, Abnormal carotid artery morphology, Bladder diverticulum, Intracranial hemor... ORPHA:565
Cardiac-Urogenital Syndrome
Cor triatrium sinister, Wide nasal bridge, Pericardial effusion, Patent urachus, Biventricular hy... OMIM:618280
Intellectual Developmental Disorder, Autosomal Dominant 47
Widely-spaced incisors, Prominent nasal bridge, Ventricular septal defect, Wide mouth OMIM:617635
Tuberous Sclerosis 1
Dental enamel pits, Renal angiomyolipoma, Cardiac rhabdomyoma, Renal cell carcinoma, Gingival fib... OMIM:191100
Ciliary Dyskinesia, Primary, 30
Ventricular septal defect, Chronic sinusitis, Nasal polyposis, Situs inversus totalis, Dextrocard... OMIM:616037
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Patent ductus arteriosus, Retrognathia, High palate, Ventricular septal defect, Bifid uvula, Prom... OMIM:300472
Van Esch-O'Driscoll Syndrome
Retrognathia, Pulmonary valve atresia, Ventricular septal defect, Wide mouth, Esophageal atresia,... OMIM:301030
Alagille Syndrome
Ventricular septal defect, Nephrotic syndrome, Renal hypoplasia/aplasia, Micrognathia, Short phil... ORPHA:52
Paternal Uniparental Disomy Of Chromosome 6
Patent ductus arteriosus, Retrognathia, Abdominal wall defect, High palate, Ventricular septal de... ORPHA:96191
Neu-Laxova Syndrome 2
Spina bifida, Microcephaly, Ventriculomegaly, Intrauterine growth retardation OMIM:616038
Cole-Carpenter Syndrome 2
Short stature, Hydrocephalus, Macrocephaly, Postnatal growth retardation OMIM:616294
Joubert Syndrome 2
High palate, Renal cyst, Depressed nasal bridge, Microphthalmia, Nephronophthisis, Renal insuffic... OMIM:608091
Distal 22Q11.2 Microduplication Syndrome
Camptodactyly of finger, Patent ductus arteriosus, Wide nose, Mandibular prognathia, High palate,... ORPHA:261337
Spinocerebellar Ataxia-Dysmorphism Syndrome
Short nose, Downturned corners of mouth, Anteverted nares, Thick vermilion border ORPHA:1185
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus OMIM:617542
Aspergillosis
Abnormality of the kidney, Stroke, Intracranial hemorrhage ORPHA:1163
Noonan Syndrome 3
Patent ductus arteriosus, Patent foramen ovale, High palate, Ventricular septal defect, Mitral va... OMIM:609942
Nicolaides-Baraitser Syndrome
Long philtrum, Wide mouth, Widely spaced teeth, Short lingual frenulum, Thick lower lip vermilion... OMIM:601358
Geleophysic Dysplasia 2
Long philtrum, Mitral stenosis, Mitral valve prolapse, Short nose, Thin upper lip vermilion, Smoo... OMIM:614185
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Long philtrum, Micrognathia, Tented philtrum, Optic nerve hypoplasia, Renal cyst, Buphthalmos, An... ORPHA:495875
Griscelli Syndrome
Hydrocephalus, Encephalocele, Short stature ORPHA:381
Schneckenbecken Dysplasia
Cleft palate, Malar flattening, Umbilical hernia, Short nose OMIM:269250
Renal Hypoplasia, Bilateral
Vesicoureteral reflux, Beta 2-microglobulinuria, Microscopic hematuria, Glycosuria, Renal cyst, D... ORPHA:97362
Orofaciodigital Syndrome X
Retrognathia, Cleft palate, Depressed nasal bridge OMIM:165590
Pfeiffer Syndrome Type 2
High palate, Anal atresia, Short nose, Intestinal malrotation, Depressed nasal bridge, Cleft pala... ORPHA:93259
Omodysplasia 1
Long philtrum, Ventricular septal defect, Wide nasal bridge, Micrognathia, Atrial septal defect, ... OMIM:258315
Adenylosuccinase Deficiency
Long philtrum, Wide mouth, Short nose, Thin upper lip vermilion, Smooth philtrum, Anteverted nares OMIM:103050
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Underdeveloped nasal alae, High palate, Micrognathia, Short nose, Low insertion of columella, Dep... OMIM:619005
Lathosterolosis
Thick upper lip vermilion, High palate, Long philtrum, Wide nasal bridge, Micrognathia, Foam cell... OMIM:607330
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Camptodactyly of finger, Underdeveloped nasal alae, Hypoplasia of the frontal bone, Wide nasal br... ORPHA:306542
Pituitary Deficiency Due To Rathke Cleft Cysts
Hydrocephalus, Intracranial hemorrhage ORPHA:91350
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Aminoaciduria, Glycosuria, Hyperphosphaturia, Hypertrophic cardiomyopathy, Increased CSF lactate,... OMIM:220110
Acyl-Coa Dehydrogenase 9 Deficiency
Sudden cardiac death, Cerebellar hemorrhage, Dicarboxylic aciduria, Congestive heart failure, Dil... ORPHA:99901
Poikiloderma With Neutropenia
Retrognathia, Underdeveloped nasal alae, Long philtrum, Micrognathia, Recurrent sinusitis, Short ... OMIM:604173
Chromosome 6Q24-Q25 Deletion Syndrome
Patent ductus arteriosus, Persistent fetal circulation, Lateral ventricle dilatation, Hydrocephal... OMIM:612863
Contractural Arachnodactyly, Congenital
Knee flexion contracture, Wrist flexion contracture, Congenital finger flexion contractures, Dist... OMIM:121050
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Patent ductus arteriosus, Ventricular septal defect, Unilateral renal agenesis, Renal cyst, Flexi... ORPHA:464311
Pericardial And Diaphragmatic Defect
Patent ductus arteriosus, Mitral stenosis, Bicuspid aortic valve, Partial diaphragmatic absence o... ORPHA:2847
Menke-Hennekam Syndrome 1
Underdeveloped nasal alae, Flexion contracture, High palate, Everted upper lip vermilion, Long ph... OMIM:618332
Argininemia
Diaminoaciduria ORPHA:90
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Progressive microcephaly, Hydrocephalus, Microcephaly OMIM:615249
Severe Generalized Junctional Epidermolysis Bullosa
Enamel hypoplasia, Esophageal stricture, Multicystic kidney dysplasia, Urinary retention, Recurre... ORPHA:79404
2P21 Microdeletion Syndrome
Nephrolithiasis, Growth delay, Cystinuria ORPHA:163693
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus, Short stature ORPHA:1861
Degcags Syndrome
Abnormal renal cortex morphology, Micrognathia, Smooth philtrum, Intestinal atresia, Patent foram... OMIM:619488
Congenital Rubella Syndrome
Patent ductus arteriosus, Ventricular septal defect, Aplasia/Hypoplasia of the iris, Atrial septa... ORPHA:290
Adams-Oliver Syndrome
Pulmonary arterial hypertension, Encephalocele, Arteriovenous malformation, Hydrocephalus, Gastro... ORPHA:974
Microlissencephaly-Micromelia Syndrome
Fetal pyelectasis, Long philtrum, Short nose ORPHA:50810
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Tubulointerstitial nephritis, Ventriculomegaly, Polycystic kidney dysplasia, Hydrocephalus, Dicar... ORPHA:228308
Msh3-Related Attenuated Familial Adenomatous Polyposis
Stomach cancer, Colorectal polyposis, Multiple gastric polyps, Neoplasm of the rectum, Renal cyst... ORPHA:480536
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Dyrk1A-Related Intellectual Disability Syndrome
Patent ductus arteriosus, Multiple joint contractures, Ventricular septal defect, Narrow nasal ti... ORPHA:464306
Polycythemia Vera
Gastrointestinal hemorrhage, Cerebral ischemia, Cerebral hemorrhage, Budd-Chiari syndrome OMIM:263300
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Atrioventricular canal defect, Mandibular prognathia, Ventricular septal defect, Truncus arterios... ORPHA:508498
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Abnormal T-wave, Intracranial hemorrhage, Hypertension, Increased urinary potassium, Epistaxis, P... ORPHA:231625
2Q31.1 Microdeletion Syndrome
Camptodactyly of finger, Ventricular septal defect, Long philtrum, Deep philtrum, Micrognathia, A... ORPHA:251014
Meier-Gorlin Syndrome 6
Underdeveloped nasal alae, Depressed nasal ridge, Microretrognathia, Short nose, Depressed nasal ... OMIM:616835
Williams Syndrome
Peptic ulcer, Aortic arch aneurysm, Colonic diverticula, Abnormal cardiac septum morphology, Abno... ORPHA:904
Cocaine Intoxication
Tubulointerstitial nephritis, Hypotension, Ischemic stroke, Hypovolemia, Cerebral hemorrhage, Acu... ORPHA:90068
Seckel Syndrome 9
Convex nasal ridge, Ventricular septal defect, Recurrent urinary tract infections, Micrognathia, ... OMIM:616777
Familial Hyperaldosteronism Type I
Epistaxis, Intracranial hemorrhage, Hypertension ORPHA:403
Kawasaki Disease
Ascending tubular aorta aneurysm, Abnormal heart valve morphology, Glossitis, Recurrent pharyngit... ORPHA:2331
Short Stature, Developmental Delay, And Congenital Heart Defects
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Atrial septal defect OMIM:617044
Phosphoribosylpyrophosphate Synthetase Superactivity
Urolithiasis, Uric acid nephrolithiasis, Convex nasal ridge, High palate, Wide mouth, Short nose,... OMIM:300661
Pontocerebellar Hypoplasia, Type 10
Underdeveloped nasal alae, High palate, Wide nasal bridge, Widely spaced teeth, Short nose, Thin ... OMIM:615803
Craniofacial-Deafness-Hand Syndrome
Narrow naris, Short nose, Hypoplasia of the maxilla, Depressed nasal bridge, Malar flattening OMIM:122880
X-Linked Intellectual Disability, Armfield Type
Patent ductus arteriosus, Aminoaciduria, Mandibular prognathia, Abnormal cardiac septum morpholog... ORPHA:85276
Linear Skin Defects With Multiple Congenital Anomalies 1
Histiocytoid cardiomyopathy, Ventricular septal defect, Anal atresia, Atrial septal defect, Conge... OMIM:309801
Erythrocytosis, Familial, 2
Pulmonary arterial hypertension, Hypotension, Cerebral hemorrhage, Stroke, Varicose veins OMIM:263400
Fontaine Progeroid Syndrome
Convex nasal ridge, Reduced subcutaneous adipose tissue, Microdontia, Micrognathia, Everted lower... OMIM:612289
Bannayan-Riley-Ruvalcaba Syndrome
Wide nose, Narrow palate, Long philtrum, Abnormal large intestine morphology, Arteriovenous malfo... ORPHA:109
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Patent ductus arteriosus, Patent foramen ovale, Flexion contracture, Hernia, Nephrotic syndrome, ... ORPHA:505248
Histiocytoid Cardiomyopathy
Ventricular septal defect, Renal cyst, Stroke-like episode, Polycystic ovaries, Microphthalmia, C... ORPHA:137675
Kabuki Syndrome 1
Hydronephrosis, High palate, Ventricular septal defect, Crossed fused renal ectopia, Wide nasal b... OMIM:147920
Wolf-Hirschhorn Syndrome
Short upper lip, Cleft upper lip, Rieger anomaly, Convex nasal ridge, Ventricular septal defect, ... OMIM:194190
Williams-Beuren Syndrome
Flexion contracture, Coronary artery stenosis, Colonic diverticula, Microdontia, Retinal arteriol... OMIM:194050
D-Glyceric Aciduria
Progressive microcephaly, Microcephaly, Hyperglycinuria, Increased CSF glycine concentration ORPHA:941
Pseudoxanthoma Elasticum, Forme Fruste
Retinal hemorrhage, Cerebral hemorrhage, Premature occlusive vascular stenosis, Angina pectoris, ... OMIM:177850
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Patent foramen ovale, Hydronephrosis, High palate, Ventricular septal defect, Long philtrum, Abno... ORPHA:363700
Thrombocytopenia-Absent Radius Syndrome
Abnormal cardiac septum morphology, Abnormality of the kidney, Micrognathia, Axial malrotation of... ORPHA:3320
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Elbow flexion contracture, Short nose, Downturned corners of mouth, Contracture of the proximal i... OMIM:612394
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal aortic morphology, Ventricular septal defect, Abnormal tricuspid valve morphology, Duode... ORPHA:3405
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Nephroblastoma, Abnormal right ventricle morphology, Bifid ureter, Ventricular septal defect, Mul... ORPHA:500095
Familial Hyperaldosteronism Type Ii
Epistaxis, Intracranial hemorrhage, Hypertension ORPHA:404
Aymé-Gripp Syndrome
Patent ductus arteriosus, Long philtrum, Pericardial effusion, Oligodontia, Camptodactyly, Short ... ORPHA:1272
Sturge-Weber Syndrome
Pulmonary embolism, Abnormal cerebral vascular morphology, Macrocephaly, Hydrocephalus, Conjuncti... ORPHA:3205
Hydranencephaly
Antenatal intracerebral hemorrhage, Dilatation of the ventricular cavity, Abnormal cerebral arter... ORPHA:2177
Pseudo-Torch Syndrome 3
Acute kidney injury, Proteinuria, Hypertension, Cerebral hemorrhage OMIM:618886
Peroxisome Biogenesis Disorder 5A (Zellweger)
High palate, Ventricular septal defect, Micrognathia, Polycystic kidney dysplasia, Camptodactyly,... OMIM:614866
Joubert Syndrome
Biparietal narrowing, Hydrocephalus, Encephalocele ORPHA:475
Combined Immunodeficiency-Enteropathy Spectrum
Ventricular septal defect, Intestinal malrotation, Rectal abscess, Jejunoileal ulceration, Omphal... ORPHA:436252
Myasthenic Syndrome, Congenital, 22
Short stature, Cystinuria OMIM:616224
Vascular Hyalinosis
Subarachnoid hemorrhage, Vascular dilatation, Hematochezia OMIM:277175
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Patent ductus arteriosus, Ventricular septal defect OMIM:617021
Weill-Marchesani Syndrome 1
Patent ductus arteriosus, Narrow palate, Ventricular septal defect, Abnormality of dental morphol... OMIM:277600
Fountain Syndrome
Spina bifida occulta, Short stature, Macrocephaly, Spina bifida ORPHA:3219
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Aortic root aneurysm, Ventricular septal defect, Camptodactyly, Short philtrum, Atrial septal def... OMIM:301039
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Ventricular septal defect, Wide nasal bridge, Micrognathia, Narrow nasal bridge, Depressed nasal ... OMIM:620073
Marfanoid-Progeroid-Lipodystrophy Syndrome
Aortic root aneurysm, Macrocephaly, Hydrocephalus, Hypertension, Bruising susceptibility, Lateral... OMIM:616914
Renal-Hepatic-Pancreatic Dysplasia 1
Patent ductus arteriosus, Pancreatic cysts, Renal dysplasia, Stage 5 chronic kidney disease, Enla... OMIM:208540
Joubert Syndrome With Hepatic Defect
Multicystic kidney dysplasia, Renal insufficiency, Hydrocephalus, Biparietal narrowing, Macroceph... ORPHA:1454
Mucopolysaccharidosis, Type Vi
Pulmonary arterial hypertension, Cardiomyopathy, Pulmonary insufficiency, Short stature, Sinus ta... OMIM:253200
Mosaic Trisomy 16
Patent ductus arteriosus, Ventricular septal defect, Wide mouth, Craniofacial asymmetry, Atrial s... ORPHA:1708
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Macroglossia, Short nose, Depressed nasal bridge, Concave nasal ridge, Anteverted nares, Malar fl... OMIM:613038
Autosomal Recessive Faciodigitogenital Syndrome
High palate, Long philtrum, Wide mouth, Deep philtrum, Micrognathia, Short nose, Everted lower li... ORPHA:1974
Genitopatellar Syndrome
Knee flexion contracture, Wide nose, Multicystic kidney dysplasia, Hip contracture, Ventricular s... OMIM:606170
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Aminoaciduria, High palate, Micrognathia, Renal artery stenosis, Renal hypoplasia, Nephrocalcinos... OMIM:617913
Juvenile Nephropathic Cystinosis
Abnormal urine potassium concentration, Aminoaciduria, Proximal tubulopathy, Renal phosphate wast... ORPHA:411634
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of left pulmonary artery from ascending aorta, Patent ductus arteriosus, Ventric... ORPHA:99050
Crouzon Syndrome
Hydrocephalus ORPHA:207
Webb-Dattani Syndrome
Retrognathia, Vesicoureteral reflux, Neurogenic bladder, Hydronephrosis OMIM:615926
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Convex nasal ridge, Micrognathia, Abnormal subclavian artery morphology, Abnormality of the urina... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Convex nasal ridge, Micrognathia, Abnormal subclavian artery morphology, Abnormality of the urina... ORPHA:353277
Ornithine Transcarbamylase Deficiency
Aminoaciduria ORPHA:664
Schinzel-Giedion Midface Retraction Syndrome
Abnormal nasopharynx morphology, Choanal stenosis, Hydroureter, Macroglossia, Atrial septal defec... OMIM:269150
Limb Body Wall Complex
Abdominal wall defect, Ventral hernia, Diastasis recti, Ventricular septal defect, Wide nasal bri... ORPHA:2369
Familial Expansile Osteolysis
Hydroxyprolinuria OMIM:174810
Hurler Syndrome
Cardiomyopathy, Short stature, Dermatan sulfate excretion in urine, Hydrocephalus, Macrocephaly, ... OMIM:607014
Ring Chromosome 7 Syndrome
Mandibular prognathia, Wide nasal bridge, Narrow naris, Bifid uvula, Short philtrum, Short nose, ... ORPHA:1449
Mosaic Trisomy 20
Retrognathia, Ventricular septal defect, Abnormal mitral valve morphology, Craniofacial asymmetry... ORPHA:1724
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Micrognathia, Polycystic kidney dysplasia, Intestinal malrotation, Thin upper lip vermilion, Hype... OMIM:617866
Carnitine Palmitoyltransferase Ii Deficiency
Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Cystic... ORPHA:157
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Hypoplastic left heart, Hypoplasia of penis, Ventricular septal defect ORPHA:2772
Truncus Arteriosus
Truncus arteriosus, Pulmonary artery stenosis, Ventricular septal defect, Interrupted aortic arch... ORPHA:3384
Aicardi Syndrome
Cleft upper lip, Prominence of the premaxilla, Microphthalmia, Lipoma, Anteverted nares, Cleft pa... OMIM:304050
Craniorachischisis
Spinal dysraphism, Myelomeningocele, Anencephaly, Sirenomelia, Cervical spina bifida ORPHA:63260
16P13.2 Microdeletion Syndrome
Dilated third ventricle, Ventriculomegaly, Short stature, Hydrocephalus, Relative macrocephaly, M... ORPHA:500055
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Camptodactyly of finger, Hydronephrosis, Aganglionic megacolon, Abnormality of the kidney, Abnorm... ORPHA:2273
Renal Agenesis
Ureteral agenesis, Renal insufficiency, Ventricular septal defect, Bilateral renal agenesis, Rena... ORPHA:411709
Sirenomelia
Spina bifida, Abnormality of the urinary system, Renal hypoplasia/aplasia, Sirenomelia ORPHA:3169
Telangiectasia, Hereditary Hemorrhagic, Type 4
Venous varicosities of celiac and mesenteric vessels, Palate telangiectasia, Dilatation of mesent... OMIM:610655
Telangiectasia, Hereditary Hemorrhagic, Type 1
Hepatic arteriovenous malformation, Ischemic stroke, Spontaneous, recurrent epistaxis, Fingerpad ... OMIM:187300
Warsaw Breakage Syndrome
Tetralogy of Fallot, High palate, Ventricular septal defect, Wide mouth OMIM:613398
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Knee flexion contracture, Hip contracture, Ventricular septal defect, Elbow flexion contracture, ... OMIM:178110
Wiskott-Aldrich Syndrome
Sudden cardiac death, Glomerulopathy, Petechiae, Purpura, Intracranial hemorrhage, Bruising susce... ORPHA:906
Erythrocytosis, Familial, 1
Myocardial infarction, Hypertension, Cerebral hemorrhage OMIM:133100
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Knee flexion contracture, High palate, Wide nasal bridge, Micrognathia, Atrial septal defect, Sho... OMIM:609945
Peroxisome Biogenesis Disorder 4A (Zellweger)
Renal cyst, Depressed nasal bridge OMIM:614862
Proteus-Like Syndrome
Macrocephaly, Hydrocephalus, Communicating hydrocephalus, Venous insufficiency ORPHA:2969
Geleophysic Dysplasia 1
Camptodactyly of finger, Wrist flexion contracture, Long philtrum, Joint contracture of the hand,... OMIM:231050
Noonan Syndrome 9
Pulmonic stenosis, Hydroureter, Ventricular septal defect, Coarctation of aorta OMIM:616559
Koolen-De Vries Syndrome Due To A Point Mutation
Wide nasal bridge, Everted lower lip vermilion, Thick nasal alae, Vesicoureteral reflux, Ventricu... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Wide nasal bridge, Everted lower lip vermilion, Thick nasal alae, Vesicoureteral reflux, Ventricu... ORPHA:363958
Osteogenesis Imperfecta
Aortic root aneurysm, Noncommunicating hydrocephalus, Ventriculomegaly, Rhizomelia, Short stature... ORPHA:666
Hypoglossia-Hypodactyly Syndrome
Aplasia/Hypoplasia of the tongue, High palate, Jejunal atresia, Wide nasal bridge, Hypodontia, Ga... ORPHA:989
Popliteal Pterygium Syndrome
Fibrous syngnathia, Cleft upper lip, Lower lip pit, Bifid uvula, Cleft palate OMIM:119500
Bladder Exstrophy And Epispadias Complex
Hydroureter, Unilateral renal agenesis, Epispadias, Inguinal hernia, Anteriorly placed anus, Hors... OMIM:600057
Mowat-Wilson Syndrome
Flexion contracture, Abnormal cardiac septum morphology, Delayed eruption of teeth, Wide nasal br... ORPHA:2152
Icf Syndrome
Short stature, Communicating hydrocephalus, Macrocephaly, Umbilical hernia ORPHA:2268
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Dilated third ventricle, Renal tubular acidosis, Short stature, Lateral ventricle dilatation, Hyd... OMIM:619575
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Ascending tubular aorta aneurysm, Truncus arteriosus, Microdontia, Micrognathia, Bifid uvula, Cam... OMIM:612474
Osteopetrosis With Renal Tubular Acidosis
Retrognathia, Hydronephrosis, Tooth malposition, High palate, Renal tubular acidosis, Prominence ... ORPHA:2785
3-Methylglutaconic Aciduria Type 7
3-Methylglutaconic aciduria, Renal cyst, Nephrocalcinosis, Renal insufficiency, Cardiomyopathy ORPHA:445038
Tempi Syndrome
Abnormality of the kidney, Telangiectasia, Intracranial hemorrhage ORPHA:284227
Axial Osteomalacia
Renal cyst OMIM:109130
Fixed Subaortic Stenosis
Patent ductus arteriosus, Atrioventricular canal defect, Ascending tubular aorta aneurysm, Bacter... ORPHA:3092
Tibial Aplasia-Ectrodactyly Syndrome
Omphalocele ORPHA:3329
47,Xyy Syndrome
Hypospadias, Hydrocephalus, Micropenis, Macrocephaly ORPHA:8
Pontocerebellar Hypoplasia, Type 8
Patent foramen ovale, Ventricular septal defect, Anteverted nares, Tented upper lip vermilion, Ar... OMIM:614961
Fumarase Deficiency
Aminoaciduria, Relative macrocephaly, Microcephaly, Choroid plexus cyst OMIM:606812
Pheochromocytoma
Positive regitine blocking test, Cerebral hemorrhage, Congestive heart failure, Renal artery sten... OMIM:171300
Coffin-Lowry Syndrome
Wide nose, Dental malocclusion, Mandibular prognathia, Narrow palate, High palate, Widely spaced ... OMIM:303600
Cole-Carpenter Syndrome 1
Short stature, Hydrocephalus, Communicating hydrocephalus OMIM:112240
Monosomy 18Q
Patent ductus arteriosus, Short stature, Left-to-right shunt, Hydrocephalus, Biparietal narrowing... ORPHA:1600
Leigh Syndrome
3-Methylglutaconic aciduria, Renal tubular acidosis, Nephrotic syndrome, Congestive heart failure... ORPHA:506
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Severe short stature, Hydrocephalus, Encephalocele, Neonatal short-limb short stature OMIM:224400
Familial Adenomatous Polyposis 4
Duodenal polyposis, Gastric adenocarcinoma, Renal cyst, Ovarian cyst, Adenomatous colonic polyposis OMIM:617100
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Hydronephrosis OMIM:618060
Achondroplasia
Disproportionate short stature, Macrocephaly, Hydrocephalus, Rhizomelia ORPHA:15
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Aminoaciduria, Short stature, Glycosuria, Hyperphosphaturia, Nephrocalcinosis, Proteinuria OMIM:616026
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Vesicoureteral reflux, Dilation of Virchow-Robin spaces, Hydrocephalus, Unilateral renal agenesis... OMIM:619951
Hec Syndrome
Cardiomyopathy, Communicating hydrocephalus, Arrhythmia ORPHA:2119
Alagille Syndrome 1
Vesicoureteral reflux, Multiple small medullary renal cysts, Ventricular septal defect, Renal tub... OMIM:118450
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Long philtrum, Camptodactyly, Short nose, Thin upper lip vermilion, Depressed nasal bridge, Narro... OMIM:601353
Bardet-Biedl Syndrome 6
Renal cyst, Hypospadias OMIM:605231
Spondylodysplastic Ehlers-Danlos Syndrome
Flexion contracture, Ascending tubular aorta aneurysm, Multiple joint contractures, Micrognathia,... ORPHA:536471
Helsmoortel-Van Der Aa Syndrome
Wide nasal bridge, Microdontia, Everted lower lip vermilion, Smooth philtrum, Enlarged kidney, At... OMIM:615873
Joubert Syndrome With Ocular Defect
Biparietal narrowing, Hydrocephalus, Encephalocele ORPHA:220493
Chondrodysplasia Punctata 2, X-Linked Dominant
Malar flattening, Concave nasal ridge, Microphthalmia, Hydronephrosis OMIM:302960
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Microcolon, Hydroureter, Intestinal malrotation, Megacystis, Hydronephrosis OMIM:619431
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Macrocephaly, Hydrocephalus, Ventriculomegaly OMIM:616538
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Double aortic arch, Tetralogy of Fallot, Pulmonary artery atresia... OMIM:618780
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Aortic root aneurysm, Dentinogenesis imperfecta, Ascending tubular aorta aneurysm, High palate, M... ORPHA:536467
Gorlin Syndrome
Hydrocephalus ORPHA:377
Occipital Horn Syndrome
Convex nasal ridge, High palate, Long philtrum, Carotid artery tortuosity, Bladder diverticulum, ... OMIM:304150
Atresia Of Urethra
Vesicoureteral reflux, Renal dysplasia, Bladder fistula, Hydroureter, Recurrent urinary tract inf... ORPHA:105
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Pulmonary arterial hypertension, Patent ductus arteriosus, Coarctation of aorta, Growth delay, Me... OMIM:614857
Kyphomelic Dysplasia
Cleft palate, Cleft upper lip, Micrognathia, Depressed nasal bridge OMIM:211350
Netherton Syndrome
Malabsorption, Aminoaciduria, Ectopic kidney, Hydronephrosis ORPHA:634
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Flexion contracture, Convex nasal ridge, Cleft soft palate, Optic nerve hypoplasia, Intestinal ma... OMIM:619321
Methylmalonic Acidemia With Homocystinuria Type Cblf
Unilateral renal agenesis, Growth delay, Intraventricular hemorrhage, Methylmalonic aciduria, Int... ORPHA:79284
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Subarachnoid hemorrhage, Cerebral vasculitis, Growth delay OMIM:243700
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Patent ductus arteriosus, Patent foramen ovale, Prominent nose, Ventricular septal defect, Wide m... OMIM:300967
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Aortic root aneurysm, Patent foramen ovale, Patent ductus arteriosus, Underdeveloped nasal alae, ... OMIM:617506
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Ventricular septal defect OMIM:616277
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Retrognathia, Hydronephrosis, Prominent nose, Abnormality of the kidney, Abnormality of the upper... ORPHA:2636
Triopia
Cleft palate, Median cleft lip ORPHA:3374
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Retrognathia, Underdeveloped nasal alae, Ventricular septal defect, Cleft soft palate, Widely spa... ORPHA:268261
Microphthalmia, Syndromic 6
Retrognathia, High palate, Anophthalmia, Micrognathia, Bifid uvula, Microglossia, Microphthalmia,... OMIM:607932
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Natal tooth, Absent nasal bridge, Micrognathia, Anal atresia, Esophageal diverticulum, Depressed ... OMIM:617925
Lacrimoauriculodentodigital Syndrome
Patent ductus arteriosus, Enamel hypoplasia, Vesicoureteral reflux, Hydronephrosis, Microdontia, ... ORPHA:2363
Fg Syndrome Type 1
Pulmonary arterial hypertension, Ventriculomegaly, Short stature, Hydrocephalus, Macrocephaly, Co... ORPHA:93932
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Flexion contracture, Convex nasal ridge, Wide nasal bridge, Delayed eruption of teeth, Bifid uvul... ORPHA:261537
Dyssegmental Dysplasia, Silverman-Handmaker Type
Severe short stature, Hydrocephalus, Encephalocele, Microcephaly ORPHA:1865
Pallister-Hall Syndrome
Atrioventricular canal defect, Renal dysplasia, Bifid uvula, Cleft palate, Choanal atresia, Ventr... ORPHA:672
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Short nose, Depressed nasal bridge, Tented upper lip vermilion, Malar flattening, Thick vermilion... OMIM:616723
Igg4-Related Retroperitoneal Fibrosis
Hydronephrosis, Nephrotic syndrome, Large vessel vasculitis, Acute kidney injury, Dysuria, Renal ... ORPHA:49041
Trichothiodystrophy 1, Photosensitive
Retrognathia, Flexion contracture, Malabsorption, Short nose, Microphthalmia, Intestinal obstruct... OMIM:601675
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Flexion contracture, Convex nasal ridge, Wide nasal bridge, Delayed eruption of teeth, Bifid uvul... ORPHA:261552
Neurocardiofaciodigital Syndrome
Patent ductus arteriosus, Vesicoureteral reflux, Retrognathia, Overhanging nasal tip, High palate... OMIM:619869
Cleft Palate With Or Without Ankyloglossia, X-Linked
Cleft palate, Ankyloglossia, Bifid uvula OMIM:303400
Nephronophthisis 1
Renal tubular atrophy, Hyposthenuria, Stage 5 chronic kidney disease, Renal corticomedullary cyst... OMIM:256100
Cutis Marmorata Telangiectatica Congenita
Patent ductus arteriosus, Multicystic kidney dysplasia, Arteriovenous malformation, Micrognathia,... ORPHA:1556
Proximal Renal Tubular Acidosis
Aminoaciduria, Hyperuricosuria, Hypovolemia, Short stature, Glycosuria, Hyperphosphaturia, Mild p... ORPHA:47159
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Long philtrum, Micrognathia, Elbow flexion contracture, Mitral valve prolapse, Bulbous nose, Shor... ORPHA:508533
Congenital Total Pulmonary Venous Return Anomaly
Patent ductus arteriosus, Double outlet right ventricle, Mitral atresia, Ventricular septal defec... ORPHA:99125
Weill-Marchesani Syndrome 2
Patent ductus arteriosus, Narrow palate, Ventricular septal defect, High palate, Flexion contract... OMIM:608328
Atelosteogenesis Type I
Cleft palate, Micrognathia, Multiple renal cysts, Malrotation of colon ORPHA:1190
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Macrocephaly, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:618476
Dubowitz Syndrome
Hydronephrosis, High palate, Wide mouth, Delayed eruption of teeth, Malabsorption, Micrognathia, ... ORPHA:235
Nephronophthisis 3
Renal tubular atrophy, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Ne... OMIM:604387
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Microcolon, Hydroureter, Megacystis, Fetal megacystis, Hydronephrosis OMIM:619362
Pontocerebellar Hypoplasia, Type 7
Micropenis, Progressive microcephaly, Hydrocephalus, Ventriculomegaly OMIM:614969
D-Bifunctional Protein Deficiency
Retrognathia, High palate, Long philtrum, Micrognathia, Renal cyst, Depressed nasal bridge OMIM:261515
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Contractures of the large joints, High palate, Long philtrum, Micrognathia, Short nose, Smooth ph... OMIM:617527
Feingold Syndrome 1
Patent ductus arteriosus, High palate, Ventricular septal defect, Jejunal atresia, Esophageal atr... OMIM:164280
Gabriele-De Vries Syndrome
Patent foramen ovale, Distal arthrogryposis, Abnormality of upper lip vermillion, High palate, Hy... ORPHA:506358
Warburg Micro Syndrome 2
Flexion contracture, Short nose, Microphthalmia, Prominent nasal bridge, Micropenis OMIM:614225
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Underdeveloped nasal alae, Flexion contracture, Mandibular prognathia, Long philtrum, Micrognathi... OMIM:616007
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Conical tooth, Underdeveloped nasal alae, Rhinitis, Everted upper lip vermilion, Microdontia, Hyp... OMIM:305100
Telangiectasia, Hereditary Hemorrhagic, Type 2
Hepatic arteriovenous malformation, Facial telangiectasia, Ischemic stroke, Spontaneous, recurren... OMIM:600376
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Patent ductus arteriosus, Varicose veins, Peripheral arterial stenosis, Ventricular septal defect OMIM:126320
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Aortic root aneurysm, Patent foramen ovale, Patent ductus arteriosus, Vesicoureteral reflux, High... ORPHA:444077
Mandibuloacral Dysplasia With Type B Lipodystrophy
Convex nasal ridge, Micrognathia, Short nose, Narrow mouth, Generalized lipodystrophy, Abnormalit... ORPHA:90154
Gracile Bone Dysplasia
Hydrocephalus, Micropenis, Short stature OMIM:602361
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Ventriculomegaly, Macrocephaly, Hydrocephalus, Dandy-Walker malformation OMIM:614643
Glucoglycinuria
Glycosuria, Hyperglycinuria OMIM:138070
Phace Association
Patent ductus arteriosus, Vascular dilatation, Anomalous branches of internal carotid artery, Ven... OMIM:606519
Autosomal Recessive Spastic Paraplegia Type 20
Abnormal nostril morphology, Prominent nose, Dysuria, Increased overbite, Hydronephrosis ORPHA:101000
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Camptodactyly of finger, Atrioventricular canal defect, Patent ductus arteriosus, Neoplasm of the... ORPHA:3047
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Meningocele, Rhizomelic arm shortening, Dilated third ventricle, Rhizomelic leg shortening, Renal... ORPHA:397715
Blomstrand Lethal Chondrodysplasia
Long philtrum, Natal tooth, Micrognathia, Coarctation of aorta, Short nose, Depressed nasal bridg... ORPHA:50945
Cutis Laxa, Autosomal Dominant 1
Convex nasal ridge, Long philtrum, Ventricular septal defect, Inguinal hernia, Peripheral pulmona... OMIM:123700
Superficial Siderosis
Abnormal vertebral artery morphology, Enlarged sylvian cistern, Arteriovenous malformation, Abnor... ORPHA:247245
1P36 Deletion Syndrome
Camptodactyly of finger, Patent ductus arteriosus, Aortic arch aneurysm, Long philtrum, Abnormal ... ORPHA:1606
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Communicating hydrocephalus, Unilateral renal agenesis, Short stature ORPHA:1064
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased urinary 11-deoxycorticosterone level, Short stature, Intracranial hemorrhage, Renal sal... ORPHA:90795
X Small Rings
Aortic root aneurysm, Ventricular septal defect, Long philtrum, Mitral stenosis, Bicuspid aortic ... ORPHA:96201
Plaa-Associated Neurodevelopmental Disorder
Contractures of the large joints, High palate, Long philtrum, Micrognathia, Short nose, Smooth ph... ORPHA:521426
Igg4-Related Kidney Disease
Nephrotic range proteinuria, Pericarditis, Renal interstitial immunoglobulin deposits, Sialadenit... ORPHA:449395
Dysosteosclerosis
Craniofacial hyperostosis, Delayed eruption of teeth, Ventricular septal defect, Abnormal dental ... ORPHA:1782
Bardet-Biedl Syndrome
Prominent nasal bridge, Multicystic kidney dysplasia, Hypoplasia of penis, Nephrotic syndrome ORPHA:110
Rothmund-Thomson Syndrome, Type 2
Mandibular prognathia, High palate, Delayed eruption of teeth, Microdontia, Micrognathia, Supernu... OMIM:268400
Kaposiform Lymphangiomatosis
Epidural hemorrhage, Enlarged kidney, Abnormal bleeding, Bruising susceptibility, Ecchymosis, Epi... ORPHA:464329
Criss-Cross Heart
Ventricular septal defect, Abnormal mitral valve morphology, Mitral stenosis, Tricuspid stenosis,... ORPHA:1461
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Patent ductus arteriosus, Patent foramen ovale, Hernia, Ventricular septal defect, Hypoplastic tr... ORPHA:2255
Neurofibromatosis, Type I
Aqueductal stenosis, Short stature, Spina bifida, Hydrocephalus, Macrocephaly, Hypertension, Rena... OMIM:162200
Multiple Acyl-Coa Dehydrogenase Deficiency
Polycystic kidney dysplasia, Lacticaciduria, Depressed nasal bridge, Abnormal heart morphology, G... ORPHA:26791
Monosomy 22Q13.3
Dental malocclusion, Vesicoureteral reflux, Wide nasal bridge, Renal dysplasia, Recurrent pyelone... ORPHA:48652
Trichohepatoenteric Syndrome 1
Wide nose, Ventricular septal defect, Villous atrophy, Long philtrum, Wide mouth, Depressed nasal... OMIM:222470
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Retrognathia, High palate, Long philtrum, Wide nasal bridge, Recurrent urinary tract infections, ... OMIM:617157
Spondyloepiphyseal Dysplasia, Nishimura Type
Short nose OMIM:618618
Noonan Syndrome 2
Patent ductus arteriosus, Atrioventricular canal defect, Abnormal coronary artery origin, High pa... OMIM:605275
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Oculocerebrocutaneous Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:1647
Renal Cysts And Diabetes Syndrome
Stage 5 chronic kidney disease, Abnormality of the kidney, Glycosuria, Unilateral renal agenesis,... OMIM:137920
Weill-Marchesani Syndrome
Aortic valve stenosis, Pulmonic stenosis, Ventricular septal defect ORPHA:3449
Crimean-Congo Hemorrhagic Fever
Hypotension, Hemoperitoneum, Tachycardia, Abnormal left ventricular function, Subdural hemorrhage... ORPHA:99827
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Dilated third ventricle, Ventriculomegaly, Lateral ventricle dilatation, Hydrocephalus, Dandy-Wal... OMIM:613154
Fanconi-Bickel Syndrome
Renal tubular acidosis, Glycosuria, Hyperphosphaturia, Generalized aminoaciduria, Nephropathy, Gr... ORPHA:2088
Dend Syndrome
Downturned corners of mouth, Long philtrum, Anteverted nares, Short nose ORPHA:79134
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Patent ductus arteriosus, Patent foramen ovale, Increased size of nasopharyngeal adenoids, Ossify... ORPHA:457395
Hypotonia-Cystinuria Syndrome
Cystine crystalluria, Nephrolithiasis, Cystinuria, Postnatal growth retardation OMIM:606407
Lhermitte-Duclos Disease
Macrocephaly, Hydrocephalus ORPHA:65285
Dextrocardia
Abnormal EKG, T-wave inversion, Hydrocephalus, Abnormality of the ureter, Congenital malformation... ORPHA:1666
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Methylmalonic aciduria, Homocystinuria OMIM:236270
Thiamine-Responsive Megaloblastic Anemia Syndrome
Stroke, Ventricular septal defect, Atrial septal defect ORPHA:49827
Tuberous Sclerosis 2
Renal angiomyolipoma, Cardiac rhabdomyoma, Renal cell carcinoma, Gingival fibromatosis, Absence o... OMIM:613254
Campomelic Dysplasia
Irregular dentition, High palate, Long philtrum, Depressed nasal ridge, Micrognathia, Submucous c... OMIM:114290
Beck-Fahrner Syndrome
High palate, Long philtrum, Ventricular septal defect, Cardiomegaly, Open mouth OMIM:618798
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Flexion contracture, High palate, Long philtrum, Wide mouth, Thick lower lip vermilion, Micrognat... OMIM:309590
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Hydrocephalus, Dilated cardiomyopathy, Holoprosencephaly, Transposition of the gre... OMIM:253800
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Glomerulopathy, Multicystic kidney dysplasia, Mandibular prognathia, Acute kidney injury, Renal c... ORPHA:93111
Mucopolysaccharidosis Type 1
Short stature, Macrocephaly, Hydrocephalus, Congestive heart failure, Hypertrophic cardiomyopathy... ORPHA:579
Bardet-Biedl Syndrome 12
Hydroureter, Cystic renal dysplasia, Hydronephrosis OMIM:615989
Al-Gazali Syndrome
Wrist flexion contracture, Micrognathia, Hydronephrosis OMIM:609465
Stuve-Wiedemann Syndrome 1
Knee flexion contracture, Pulmonary arterial medial hypertrophy, Micrognathia, Elbow flexion cont... OMIM:601559
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Arteriosclerosis, Hydrocephalus, Microcephaly, Short stature ORPHA:220295
Osteopetrosis, Autosomal Recessive 1
Macrocephaly, Hydrocephalus OMIM:259700
Nephronophthisis 4
Renal tubular atrophy, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Ne... OMIM:606966
Distal Renal Tubular Acidosis
Aminoaciduria, Proximal tubulopathy, Hypocitraturia, Short stature, Hypermagnesiuria, Hyperphosph... ORPHA:18
Hyperparathyroidism-Jaw Tumor Syndrome
Nephroblastoma, Peptic ulcer, Mandibular pain, Renal insufficiency, Renal hamartoma, Renal cyst, ... ORPHA:99880
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Mandibular prognathia, Short nose OMIM:618087
Peroxisome Biogenesis Disorder 1B
Renal cyst, Convex nasal ridge, Hyperoxaluria, Wide nasal bridge OMIM:601539
Granulomatosis With Polyangiitis
Glomerulopathy, Hydronephrosis, Abnormal oral cavity morphology, Hematuria, Pericarditis, Epistax... ORPHA:900
Treacher Collins Syndrome 2
Retrognathia, Choanal stenosis, Micrognathia, Microretrognathia, Hypoplasia of the zygomatic bone... OMIM:613717
De Barsy Syndrome
Patent ductus arteriosus, High palate, Ventricular septal defect, Delayed eruption of teeth, Prom... ORPHA:2962
Witteveen-Kolk Syndrome
Wide nasal bridge, Smooth philtrum, Contracture of the distal interphalangeal joint of the 4th fi... OMIM:613406
Hyperlysinemia
Hyperlysinuria, Increased CSF lysine concentration, Short stature, Decreased CSF arginine concent... ORPHA:2203
Tbck-Related Intellectual Disability Syndrome
Diastasis recti, Mandibular prognathia, Ventricular septal defect, Long philtrum, Neurogenic blad... ORPHA:488632
Fanconi Anemia
Abnormal cardiac septum morphology, Abnormal carotid artery morphology, Aplasia/Hypoplasia of the... ORPHA:84
Oculocerebral Hypopigmentation Syndrome, Preus Type
Abnormal renal tubule morphology, Hydrocephalus, Short stature ORPHA:2720
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Micrognathia, Short nose ORPHA:1129
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Lower-limb joint contracture, Dilatation of the ventricular cavity, Mandibular prognathia, Ventri... ORPHA:459070
Pontocerebellar Hypoplasia, Type 2E
Wide nose, Micrognathia, Flexion contracture, Short nose OMIM:615851
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Polycystic kidney dysplasia, Renal angiomyolipoma OMIM:600273
Lumbar Syndrome
Vesicoureteral reflux, Renal duplication, Myelomeningocele, Spina bifida, Renal agenesis, Hypospa... ORPHA:83628
8Q24.3 Microdeletion Syndrome
Atrioventricular canal defect, Truncus arteriosus, Cleft maxillary alveolar ridge, Wide nasal bri... ORPHA:508488
Cornelia De Lange Syndrome
Delayed eruption of teeth, Micrognathia, Cleft palate, Choanal atresia, Vesicoureteral reflux, Mu... ORPHA:199
Aneurysm-Osteoarthritis Syndrome
Camptodactyly of finger, Bifid uvula, Aortic dissection, Cleft palate, Dilatation of the sinus of... ORPHA:284984
Parathyroid Carcinoma
Nephroblastoma, Peptic ulcer, Mandibular pain, Renal insufficiency, Renal hamartoma, Renal cyst, ... ORPHA:143
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Lower-limb joint contracture, Increased axial length of the globe, Ventricular septal defect, Eve... ORPHA:513456
Wiedemann-Rautenstrauch Syndrome
Camptodactyly of finger, Dilatation of renal calices, Convex nasal ridge, Reduced subcutaneous ad... ORPHA:3455
Histidinuria Due To A Renal Tubular Defect
Histidinuria, Impaired histidine renal tubular absorption OMIM:235830
Myhre Syndrome
Patent ductus arteriosus, Mandibular prognathia, Ventricular septal defect, Pericardial effusion,... OMIM:139210
Cystic Echinococcosis
Renal cyst, Abnormal heart morphology, Hepatic cysts, Ovarian cyst, Membranous nephropathy ORPHA:400
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant
Short stature, Macrocephaly, Subdural hemorrhage, Microcephaly, Intrauterine growth retardation OMIM:619714
Treacher Collins Syndrome 1
Cleft soft palate, Wide mouth, Abnormal parotid gland morphology, Micrognathia, Bilateral microph... OMIM:154500
Large Congenital Melanocytic Nevus
Hydrocephalus ORPHA:626
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Homocystinuria OMIM:250940
Holt-Oram Syndrome
Patent ductus arteriosus, Atrioventricular canal defect, Abnormal aortic morphology, Ventricular ... ORPHA:392
Phaver Syndrome
Camptodactyly of finger, Ventricular septal defect, Coarctation of aorta, Depressed nasal bridge,... ORPHA:2876
Joubert Syndrome 1
Macroglossia, Renal cyst, Nephropathy, Protruding tongue, Triangular-shaped open mouth, Anteverte... OMIM:213300
Whipple Disease
Hypotension, Hydrocephalus, Pericarditis, Myocardial infarction, Gastrointestinal hemorrhage, Myo... ORPHA:3452
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Renal cortic... OMIM:174000
Blackfan-Diamond Anemia
High palate, Ventricular septal defect, Cleft soft palate, Adenocarcinoma of the colon, Radial ar... ORPHA:124
Loeys-Dietz Syndrome 1
Aortic root aneurysm, Patent ductus arteriosus, Retrognathia, Pulmonary artery aneurysm, Dilatati... OMIM:609192
Loeys-Dietz Syndrome 2
Ascending tubular aorta aneurysm, Aortic arch aneurysm, Micrognathia, Bifid uvula, Camptodactyly,... OMIM:610168
Biliary, Renal, Neurologic, And Skeletal Syndrome
Atrioventricular canal defect, Unbalanced atrioventricular canal defect, Secundum atrial septal d... OMIM:619534
Leigh Syndrome With Leukodystrophy
Hypertrophic cardiomyopathy, Ventricular septal defect ORPHA:255241
Kyphoscoliotic Ehlers-Danlos Syndrome
Antenatal intracerebral hemorrhage, Short stature, Cerebral hemorrhage, Aortic aneurysm, Bladder ... ORPHA:536545
Hellp Syndrome
Hypotension, Cerebral hemorrhage, Acute kidney injury, Hemoglobinuria, Internal hemorrhage, Prolo... ORPHA:244242
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Knee flexion contracture, Patent foramen ovale, Flexion contracture, Hip contracture, Ventricular... OMIM:210710
Pyruvate Dehydrogenase E1-Alpha Deficiency
Flexion contracture, Ventricular septal defect, Abnormality of medullary pyramid morphology ORPHA:79243
Gyrate Atrophy Of Choroid And Retina
Aminoaciduria ORPHA:414
Hypoplastic Left Heart Syndrome 2
Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect OMIM:614435
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Short nose ORPHA:289266
Aspartylglucosaminuria
Aspartylglucosaminuria, Mandibular prognathia, Wide nasal bridge, Malabsorption, Macroglossia, Sh... ORPHA:93
Congenital Bile Acid Synthesis Defect Type 2
Renal cyst, Fat malabsorption, Dark urine, Steatorrhea ORPHA:79303
Hereditary Orotic Aciduria
Patent ductus arteriosus, Aminoaciduria, Oroticaciduria, Abnormality of the ureter, Orotic acid c... ORPHA:30
Mpdu1-Cdg
Thin vermilion border, Renal cortical cysts, Prominent frontal sinuses ORPHA:79323
Meier-Gorlin Syndrome 7
Vesicoureteral reflux, High palate, Ventricular septal defect, Urethral stricture, Anal atresia, ... OMIM:617063
Myopathy With Extrapyramidal Signs
Tented upper lip vermilion, Ventricular septal defect, Anteverted nares OMIM:615673
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Multicystic kidney dysplasia, Ventriculomegaly, Anencephaly, Hydrocephalus, Communicating hydroce... OMIM:615287
Campomelia, Cumming Type
Pancreatic cysts, Polycystic kidney dysplasia OMIM:211890
Intellectual Developmental Disorder, Autosomal Dominant 65
Noncommunicating hydrocephalus OMIM:619320
Fraser Syndrome 3
Ureteral agenesis, Hypoplasia of the bladder, Bilateral renal agenesis, Hydrocephalus, Hypoplasia... OMIM:617667
Cutis Laxa, Autosomal Recessive, Type Ib
Aortic root aneurysm, Pulmonary artery aneurysm, High palate, Convex nasal ridge, Micrognathia, V... OMIM:614437
Noonan Syndrome 8
Patent ductus arteriosus, Ventricular septal defect, Left ventricular hypertrophy, Atrial septal ... OMIM:615355
Pfeiffer Syndrome Type 1
Depressed nasal bridge, High palate, Short nose ORPHA:93258
Paget Disease Of Bone 5, Juvenile-Onset
Short stature, Relative macrocephaly, Macrocephaly, Hydroxyprolinuria, Increased urine deoxypyrid... OMIM:239000
Cole-Carpenter Syndrome
Communicating hydrocephalus, Intrauterine growth retardation, Short stature ORPHA:2050
Lethal Congenital Contracture Syndrome 5
Retinal hemorrhage, Subdural hemorrhage OMIM:615368
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, T-wave inversion, Enlarged kidney, Hydrocephalus, ST segment depression, Congestive ... OMIM:261740
Primary Fanconi Renotubular Syndrome
Renal phosphate wasting, Hyperuricosuria, Stage 5 chronic kidney disease, Renal sodium wasting, G... ORPHA:3337
Knobloch Syndrome
Patent ductus arteriosus, Vesicoureteral reflux, Bifid ureter, Hydrocephalus, Occipital encephalo... ORPHA:1571
Argininosuccinic Aciduria
Oroticaciduria, Aminoaciduria, Short stature ORPHA:23
Thrombocytopenia-Absent Radius Syndrome
Patent ductus arteriosus, Atrioventricular canal defect, Vesicoureteral reflux, Pancreatic cysts,... OMIM:274000
Histiocytosis-Lymphadenopathy Plus Syndrome
Camptodactyly of finger, Patent ductus arteriosus, Retrognathia, Ventricular septal defect, Left ... OMIM:602782
Beemer-Ertbruggen Syndrome
Communicating hydrocephalus ORPHA:1237
Osteopetrosis, Autosomal Recessive 5
Ventriculomegaly, Short stature, Hydrocephalus, Growth delay, Stillbirth, Microcephaly OMIM:259720
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Anomalous origin of ri... OMIM:610338
Orofaciodigital Syndrome Xiv
Patent ductus arteriosus, Lobulated tongue, Bifid tongue, Ventricular septal defect, Natal tooth,... OMIM:615948
Delpire-Mcneill Syndrome
Tracheoesophageal fistula, Ventricular septal defect OMIM:619083
Hereditary Cryohydrocytosis With Reduced Stomatin
Hypoglycorrhachia, Short stature, Communicating hydrocephalus, Macrocephaly, Microcephaly, Postna... ORPHA:168577
Mesomelia-Synostoses Syndrome
Convex nasal ridge, Micrognathia, Microretrognathia, Absent uvula, Hydronephrosis OMIM:600383
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Anencephaly, Hydrocephalus, Micropenis OMIM:616546
Osteopetrosis, Autosomal Recessive 2
Hydrocephalus OMIM:259710
Arima Syndrome
Renal tubular atrophy, Dilated fourth ventricle, Stage 5 chronic kidney disease, Renal sodium was... OMIM:243910
Johanson-Blizzard Syndrome
Underdeveloped nasal alae, Vascular dilatation, Colonic diverticula, Ventricular septal defect, C... OMIM:243800
Hurler Syndrome
Short stature, Hydrocephalus, Angina pectoris, Hypertension, Mucopolysacchariduria, Growth delay,... ORPHA:93473
Hypocalciuric Hypercalcemia, Familial, Type Iii
Multiple lipomas, Peptic ulcer, Chondrocalcinosis, Multiple small medullary renal cysts, Parathor... OMIM:600740
Ulnar-Mammary Syndrome
Camptodactyly of finger, Ventricular septal defect, Ectopic anus, Hypodontia, Pyloric stenosis, H... ORPHA:3138
Phocomelia, Schinzel Type
Micrognathia, Hypoplasia of penis, Anal atresia, Short nose, Tracheoesophageal fistula, Cleft pal... ORPHA:2879
Pontocerebellar Hypoplasia, Type 17
Patent ductus arteriosus, Secundum atrial septal defect, Ventricular septal defect, Microretrogna... OMIM:619909
Phakomatosis Pigmentokeratotica
Nephroblastoma, Spina bifida, Raynaud phenomenon, Arrhythmia, Unilateral renal hypoplasia, Renal ... ORPHA:2874
Ciliary Dyskinesia, Primary, 43
Noncommunicating hydrocephalus OMIM:618699
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Myocardial infarction, Stroke, Homocystinuria, Methioninuria OMIM:236200
Osteopetrosis, Autosomal Recessive 7
Hydrocephalus, Growth delay, Lateral ventricle dilatation, Increased head circumference OMIM:612301
Diphallia
Duplicated colon, Renal duplication, Renal malrotation, Penoscrotal transposition, Rectoperineal ... ORPHA:227
Cardiospondylocarpofacial Syndrome
Patent foramen ovale, Vesicoureteral reflux, Ventricular septal defect, Long philtrum, Wide mouth... OMIM:157800
Visceral Myopathy 1
Vesicoureteral reflux, Urinary retention, Megaduodenum, Aganglionic megacolon, Microcolon, Megacy... OMIM:155310
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Patent ductus arteriosus after birth at term, Ischemic stroke, Wide nasal bridge, Bifid uvula, Op... ORPHA:500150
Achondroplasia
Macrocephaly, Hydrocephalus, Rhizomelia, Neonatal short-limb short stature OMIM:100800
Acrorenal-Mandibular Syndrome
High palate, Narrow palate, Micrognathia, Elbow flexion contracture, Polycystic kidney dysplasia,... OMIM:200980
Yunis-Varon Syndrome
Micrognathia, Narrow nasal base, Glossoptosis, Short upper lip, Ventricular septal defect, Premat... ORPHA:3472
Fanconi Anemia, Complementation Group D2
Patent ductus arteriosus, Renal duplication, Short stature, Renal agenesis, Hydrocephalus, Bruisi... OMIM:227646
Semilobar Holoprosencephaly
Single naris, Flexion contracture, High palate, Depressed nasal ridge, Proboscis, Bifid uvula, Me... ORPHA:220386
Alobar Holoprosencephaly
Single naris, Flexion contracture, High palate, Depressed nasal ridge, Proboscis, Bifid uvula, Me... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Single naris, Flexion contracture, High palate, Depressed nasal ridge, Proboscis, Bifid uvula, Me... ORPHA:93926
Lobar Holoprosencephaly
Single naris, Flexion contracture, High palate, Depressed nasal ridge, Proboscis, Bifid uvula, Me... ORPHA:93924
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic root aneurysm, Aortic atherosclerotic lesion, Papillary renal cell carcinoma, Congestive h... ORPHA:363618
Congenital Disorder Of Glycosylation, Type If
Thin vermilion border, Flexion contracture, Renal cortical cysts OMIM:609180
Osteogenesis Imperfecta, Type Xvii
Intraventricular hemorrhage, Short stature OMIM:616507
Wiedemann-Steiner Syndrome
Dilatation of renal calices, High palate, Long philtrum, Wide nasal bridge, Short nose, Thin uppe... ORPHA:319182
Classic Homocystinuria
Pulmonary embolism, Cerebral ischemia, Subcutaneous hemorrhage, Arteriovenous malformation, Intra... ORPHA:394
Jaberi-Elahi Syndrome
Triangular mouth, Depressed nasal bridge, Short nose OMIM:617988
Toriello-Lacassie-Droste Syndrome
Aganglionic megacolon, Epispadias, Abnormality of the bladder, Short nose, Abnormality of the ure... ORPHA:3339
Loeys-Dietz Syndrome 3
Aortic tortuosity, Ventricular hypertrophy, Bifid uvula, Camptodactyly, Ascending aortic dissecti... OMIM:613795
Acrodysostosis 1 With Or Without Hormone Resistance
Short stature, Mild postnatal growth retardation, Hydrocephalus, Unilateral renal agenesis, Dispr... OMIM:101800
Hyperparathyroidism, Transient Neonatal
Patent ductus arteriosus, Ventriculomegaly, Enlarged kidney, Communicating hydrocephalus, Unilate... OMIM:618188
Keutel Syndrome
Ventricular septal defect, Deep philtrum, Wide nasal bridge, Recurrent bronchitis, Chronic sinusi... OMIM:245150
Kohlschutter-Tonz Syndrome-Like
Enamel hypoplasia, Ventricular septal defect, Widely spaced teeth, Delayed eruption of teeth, Rec... OMIM:619229
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Homocitrullinuria OMIM:238970
Joubert Syndrome 39
Hypoplastic left heart, Polycystic kidney dysplasia, Joint contracture of the 5th finger OMIM:619562
Knobloch Syndrome 1
Patent ductus arteriosus, Renal duplication, Bifid ureter, Macular hypoplasia, Pyloric stenosis, ... OMIM:267750
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment
Fetal intraventricular hemorrhage, Short stature OMIM:618480
Osteootohepatoenteric Syndrome
Proteinuria, Hydrocephalus, Grade II vesicoureteral reflux OMIM:619377
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Patent foramen ovale, Ventricular septal defect, Left ventricular hypertrophy, Biventricular hype... OMIM:615474
Neurodegeneration With Brain Iron Accumulation 2A
Micrognathia, Short nose OMIM:256600
Chand Syndrome
Bifid tongue, Commissural lip pit, Hydroureter, Abnormal oral frenulum morphology, Agenesis of pe... ORPHA:1401
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Patent ductus arteriosus, Patent foramen ovale, Vesicoureteral reflux, Retrognathia, Ventricular ... ORPHA:438213
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Hydrocephalus, Hypertension, Umbilical hernia ORPHA:1555
Carpenter Syndrome 2
Knee flexion contracture, Patent ductus arteriosus, Dental malocclusion, Retrognathia, Narrow pal... OMIM:614976
Liver Disease, Severe Congenital
Subvalvular aortic stenosis, Aminoaciduria, Micrognathia, Protein-losing enteropathy, Patent fora... OMIM:619991
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Patent ductus arteriosus, Ventricular septal defect, Cerebral hemorrhage, Volvulus, Bulbous nose,... OMIM:616682
Mckusick-Kaufman Syndrome
Vesicovaginal fistula, Aganglionic megacolon, Hydroureter, Polycystic kidney dysplasia, Anal atre... OMIM:236700
Deeah Syndrome
Retrognathia, High palate, Narrow palate, Long philtrum, Malabsorption, Prominent nasal tip, Shor... OMIM:619004
Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Neoplasm of the stomach, Colorectal polyposis, Adenocarcinoma of the colon, L... ORPHA:220460
Intellectual Developmental Disorder, Autosomal Dominant 66
Aortic root aneurysm, Secundum atrial septal defect, Transposition of the great arteries, Cerebra... OMIM:619910
Bruck Syndrome 2
Short stature, Hydroxyprolinuria OMIM:609220
Cystinosis, Nephropathic
Aminoaciduria, Short stature, Stage 5 chronic kidney disease, Glycosuria, Hyperphosphaturia, Hema... OMIM:219800
Saethre-Chotzen Syndrome
Convex nasal ridge, Narrow palate, Long nose, Hypoplasia of the maxilla, Buphthalmos, Narrow nose... OMIM:101400
Mowat-Wilson Syndrome
Wide nasal bridge, Delayed eruption of teeth, Prominent nasal tip, Pulmonary artery sling, Pulmon... OMIM:235730
Tryptophanuria With Dwarfism
Conjunctival telangiectasia, Severe short stature, Tryptophanuria OMIM:276100
Meningioma
Urinary incontinence, Hydrocephalus, Cerebral hemorrhage, Syncope ORPHA:2495
Tuberous Sclerosis Complex
Renal angiomyolipoma, Cardiac rhabdomyoma, Stage 5 chronic kidney disease, Abnormality of the kid... ORPHA:805
Opsismodysplasia
Renal phosphate wasting, Long philtrum, Short nose, Depressed nasal bridge, Anteverted nares OMIM:258480
Neu-Laxova Syndrome
Ventriculomegaly, Spina bifida, Microcephaly, Intrauterine growth retardation, Dandy-Walker malfo... ORPHA:2671
Coccidioidomycosis
Hypoglycorrhachia, Cerebral ischemia, CSF pleocytosis, Abnormality of the kidney, Hydrocephalus, ... ORPHA:228123
Townes-Brocks Syndrome
Patent ductus arteriosus, Vesicoureteral reflux, Urethral valve, Abnormal cardiac septum morpholo... ORPHA:857
Spondyloepimetaphyseal Dysplasia, Krakow Type
Patent ductus arteriosus, Hydrocephalus, Rhizomelia, Bruising susceptibility OMIM:618162
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Mandibular prognathia, Bulbous nose, Short nose, Depressed nasal bridge, Anteverted nares, Malar ... OMIM:271510
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Patent ductus arteriosus, Patent foramen ovale, Prominent nose, Ventricular septal defect, Wide m... ORPHA:466791
Congenital Disorder Of Glycosylation, Type Iiw
Underdeveloped nasal alae, Wide nose, Ventricular septal defect, Moderate albuminuria, Ankyloglos... OMIM:619525
Hartnup Disease
Neutral hyperaminoaciduria, Abnormal urinary color, Short stature ORPHA:2116
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Inguinal hernia, Urethral atresia, Anal atresia, Hydronephrosis OMIM:271520
Infantile Nephropathic Cystinosis
Aminoaciduria, Glycosuria, Hyperphosphaturia, Abnormal tubulointerstitial morphology, Growth dela... ORPHA:411629
Orofaciodigital Syndrome Type 14
Patent ductus arteriosus, Lobulated tongue, Bifid tongue, Ventricular septal defect, Supernumerar... ORPHA:434179
Functioning Gonadotropic Adenoma
Delayed puberty, Hydrocephalus ORPHA:91348
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Normal pressure hydrocephalus, Lateral ventricle dilatation, Primary microcephaly, Macrocephaly, ... ORPHA:300570
Dimethylglycine Dehydrogenase Deficiency
Elevated urinary N,N-dimethylglycine level OMIM:605850
Sotos Syndrome
Flexion contracture, Congenital posterior urethral valve, No permanent dentition, Bilateral campt... ORPHA:821
Split Cord Malformation
Meningocele, Urinary incontinence, Renal duplication, Myelomeningocele, Detrusor sphincter dyssyn... ORPHA:573278
Noonan Syndrome 10
Patent ductus arteriosus, High palate, Ventricular septal defect, Mitral stenosis, Mitral valve p... OMIM:616564
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Decreased CSF homovanillic acid concentration, Ventriculomegaly, Decreased CSF albumin concentrat... ORPHA:404454
Gaucher Disease, Type Iiic
Mitral stenosis, Calcification of the aorta, Hydrocephalus OMIM:231005
Crouzon Syndrome
Hydrocephalus OMIM:123500
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Portal hypertension, Growth delay, Generalized aminoaciduria, Microcephaly OMIM:251880
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Esophagitis, Duplicated collecting system, Hydronephrosis ORPHA:541423
Diamond-Blackfan Anemia 5
Hypospadias, Ventricular septal defect OMIM:612528
Epidermal Nevus Syndrome
Polycystic kidney dysplasia, Aortic aneurysm, Lipoma ORPHA:35125
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Patent ductus arteriosus, Short stature, Cystathioninuria, Methylmalonic aciduria, Homocystinuria OMIM:277380
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Growth delay, Generalized aminoaciduria OMIM:264700
Townes-Brocks Syndrome 1
Vesicoureteral reflux, Multicystic kidney dysplasia, Renal insufficiency, Ventricular septal defe... OMIM:107480
Fanconi-Bickel Syndrome
Glycosuria, Renal tubular dysfunction, Hyperphosphaturia, Generalized aminoaciduria OMIM:227810
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Vesicoureteral reflux, Choanal stenosis, Flexion contracture, Enlarged polycystic ovaries, Elbow ... ORPHA:95699
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Prominent nasal tip, Atrial septal defect, Short nose, Progressive flexion contractures, Thin upp... ORPHA:522077
Congenitally Corrected Transposition Of The Great Arteries
Bilateral superior vena cava with bridging vein, Abnormal left ventricular outflow tract morpholo... ORPHA:216694
Glycogen Storage Disease Ii
Urinary incontinence, Right axis deviation, Sinus tachycardia, Wolff-Parkinson-White syndrome, Sh... OMIM:232300
Congenital Gerbode Defect
Vascular dilatation, Bacterial endocarditis, Ventricular septal defect, Perimembranous ventricula... ORPHA:99095
Diaphragmatic Hernia 4, With Cardiovascular Defects
Aortic root aneurysm, Aortopulmonary window, Ventricular septal defect, Micrognathia, Aortopulmon... OMIM:620025
Lymphangioleiomyomatosis
Renal angiomyolipoma, Hydrocephalus, Hematuria, Renal neoplasm, Abnormal urinary color, Multiple ... ORPHA:538
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Hydrocephalus, Abnormal renal morphology OMIM:207410
Craniopharyngioma
Cerebral ischemia, Hydrocephalus, Myocardial infarction, Delayed puberty, Growth delay, Proportio... ORPHA:54595
Hutchinson-Gilford Progeria Syndrome
Pulmonary arterial hypertension, Left ventricular diastolic dysfunction, Transient ischemic attac... ORPHA:740
Alexander Disease
Sudden cardiac death, Hypotension, Aqueductal stenosis, Macrocephaly, Hydrocephalus, Hypertension ORPHA:58
Fanconi Anemia, Complementation Group C
Flexion contracture, Ventricular septal defect, Renal agenesis, Ectopic kidney, Duplicated collec... OMIM:227645
Hyperparathyroidism, Neonatal Severe
Aminoaciduria, Hyperphosphaturia, Polyuria, Hypercalciuria OMIM:239200
Early Infantile Epileptic Encephalopathy
Ventricular septal defect, Renal dysplasia, Depressed nasal bridge, Ureterocele, Anteverted nares... ORPHA:1934
Restrictive Dermopathy
Camptodactyly of finger, Patent ductus arteriosus, Aplasia/Hypoplasia involving the nose, Ascendi... ORPHA:1662
Intellectual Developmental Disorder, Autosomal Dominant 42
High palate, Neurogenic bladder, Short philtrum, Ureteropelvic junction obstruction, Cleft palate... OMIM:616973
Orotic Aciduria
Ventricular septal defect, Hematuria, Atrial septal defect, Oroticaciduria, Orotic acid crystalluria OMIM:258900
Congenital Tracheal Stenosis
Anomalous origin of left pulmonary artery from ascending aorta, Patent ductus arteriosus, Ventric... ORPHA:141127
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Retinal hemorrhage, Ischemic stroke, Cerebral hemorrhage, Dilation of Virchow-Robin spaces, Retin... OMIM:175780
Beare-Stevenson Cutis Gyrata Syndrome
Hypertension, Hypospadias, Hydrocephalus, Ventriculomegaly OMIM:123790
Congenital Tracheomalacia
Patent ductus arteriosus, Ventricular septal defect, Esophageal atresia, Single ventricle, Atrial... ORPHA:95430
Nephronophthisis-Like Nephropathy 1
Renal tubular atrophy, Pancreatic cysts, Stage 5 chronic kidney disease, Renal corticomedullary c... OMIM:613159
Absent Radius-Anogenital Anomalies Syndrome
Hydrocephalus ORPHA:3016
Curry-Jones Syndrome
Occipital meningocele, Lipomyelomeningocele, Ventriculomegaly OMIM:601707
Idiopathic Hypereosinophilic Syndrome
Pulmonary embolism, Transient ischemic attack, Supraventricular arrhythmia, Raynaud phenomenon, C... ORPHA:3260
Erdheim-Chester Disease
Abnormal pericardium morphology, Dysuria, Abnormal aortic valve morphology, Renal insufficiency, ... ORPHA:35687
Apert Syndrome
Hypertension, Hydrocephalus, Ventriculomegaly ORPHA:87
Mucopolysaccharidosis Type 3
Ventriculomegaly, Reduced left ventricular ejection fraction, Hydrocephalus, Macrocephaly, Mucopo... ORPHA:581
Acute Transverse Myelitis
Urinary incontinence, Hypoglycorrhachia, Urinary bladder sphincter dysfunction, Urinary retention... ORPHA:139417
Laubry-Pezzi Syndrome
Patent ductus arteriosus, Patent foramen ovale, Ascending tubular aorta aneurysm, Ventricular sep... ORPHA:99094
Riddle Syndrome
Telangiectasia, Enuresis nocturna, Short stature, Conjunctival telangiectasia, Microcephaly, Intr... ORPHA:420741
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Wide nasal bridge, Smooth philtrum, Depressed nasal tip, Ventricular septal defect, Aortic aneury... OMIM:619475
Shprintzen-Goldberg Craniosynostosis Syndrome
Hydrocephalus, Microcephaly, Umbilical hernia, Aortic aneurysm OMIM:182212
Fanconi Anemia, Complementation Group L
Hydrocephalus, Unilateral renal agenesis, Growth delay, Micropenis, Renal hypoplasia, Intrauterin... OMIM:614083
Trichohepatoneurodevelopmental Syndrome
Patent ductus arteriosus, Distal arthrogryposis, High palate, Ventricular septal defect, Wide mou... OMIM:618268
Sponastrime Dysplasia
Wide nose, Obtuse angle of mandible, Mandibular prognathia, Aplasia of the nasal bone, Hypoplasia... ORPHA:93357
Hand-Foot-Genital Syndrome
Vesicoureteral reflux, Ventricular septal defect, Recurrent urinary tract infections, Hypospadias... ORPHA:2438
1P21.3 Microdeletion Syndrome
Micrognathia, Broad nasal tip, Wide mouth, Short nose ORPHA:293948
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Aqueductal stenosis, Dilation of Virchow-Robin spaces, Macrocephaly, Hydrocephalus, Microcephaly,... OMIM:619512
Atelosteogenesis, Type I
Micrognathia, Short nose, Depressed nasal bridge, Cleft palate, Malar flattening OMIM:108720
Achondrogenesis, Type Ia
Short nose, Hypoplastic nasal bridge, Depressed nasal bridge, Protruding tongue, Anteverted nares OMIM:200600
Lowe Oculocerebrorenal Syndrome
Aminoaciduria, Ventriculomegaly, Short stature, Stage 5 chronic kidney disease, Hyperphosphaturia... OMIM:309000
Alveolar Echinococcosis
Abnormal pericardium morphology, Pancreatic cysts, Renal cyst, Abnormality of bladder morphology,... ORPHA:284
Mgat2-Cdg
Patent ductus arteriosus, Convex nasal ridge, Ventricular septal defect, Recurrent upper and lowe... ORPHA:79329
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Patent ductus arteriosus, Micropenis, Ventricular septal defect, Atrial septal defect ORPHA:2519
Ileal Neuroendocrine Tumor
Intestinal fistula, Hydronephrosis, Pulmonic stenosis, Tricuspid stenosis ORPHA:100078
Jejunal Neuroendocrine Tumor
Intestinal fistula, Hydronephrosis, Pulmonic stenosis, Tricuspid stenosis ORPHA:100077
Mietens Syndrome
Wide nose, Wide nasal bridge, Short nose ORPHA:2557
Holoprosencephaly 1
Aplasia of the nose, Proboscis, Median cleft lip and palate, Microphthalmia, Single ventricle, Mi... OMIM:236100
Lissencephaly 9 With Complex Brainstem Malformation
Depressed nasal bridge, Ventricular septal defect OMIM:618325
Autosomal Recessive Polycystic Kidney Disease
Pancreatic cysts, Renal insufficiency, Depressed nasal ridge, Recurrent urinary tract infections,... ORPHA:731
Pearson Syndrome
Glycosuria, Median cleft lip and palate, Lacticaciduria, Steatorrhea, Renal cyst, Abnormal heart ... ORPHA:699
Mody
Renal cyst, Abnormality of the kidney, Nephropathy, Glycosuria ORPHA:552
Trichothiodystrophy
Retrognathia, Enamel hypoplasia, Cardiomyopathy, Multiple joint contractures, Ventricular septal ... ORPHA:33364
Molybdenum Cofactor Deficiency, Complementation Group C
Neonatal death, Increased urinary taurine OMIM:615501
Wilson Disease
Aminoaciduria, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Increased urinary copper... OMIM:277900
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hyperglycinuria, Medium chain dicarboxylic aciduria OMIM:201450
Joubert Syndrome 5
Impaired renal concentrating ability, Renal cortical cysts, Stage 5 chronic kidney disease, Reduc... OMIM:610188
Hypocalcemic Vitamin D-Dependent Rickets
Short stature, Generalized aminoaciduria, Postnatal growth retardation ORPHA:289157
Ulbright-Hodes Syndrome
Convex nasal ridge, High palate, Micrognathia, Polycystic kidney dysplasia, Depressed nasal bridg... ORPHA:3404
Brain-Lung-Thyroid Syndrome
Patent foramen ovale, Vesicoureteral reflux, Ventricular septal defect, Abnormal cardiac septum m... ORPHA:209905
Autosomal Recessive Malignant Osteopetrosis
Pulmonary arterial hypertension, Macrocephaly, Hydrocephalus, Bruising susceptibility, Growth del... ORPHA:667
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Aortic root aneurysm, Hydrocephalus, Rhizomelia, Short stature OMIM:245600
Neuromuscular Oculoauditory Syndrome
Knee flexion contracture, Wrist flexion contracture, Multiple renal cysts, Reduced renal corticom... OMIM:618733
Cockayne Syndrome A
Normal pressure hydrocephalus, Short stature, Ventriculomegaly, Hypertension, Arrhythmia, Micrope... OMIM:216400
Laurin-Sandrow Syndrome
Hydrocephalus ORPHA:2378
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
High palate, Ventricular septal defect, Atrial septal defect, Inguinal hernia, Hypertrophic cardi... OMIM:607721
17Q12 Microdeletion Syndrome
Renal hypoplasia/aplasia, Renal insufficiency, Multicystic kidney dysplasia, Ureterocele ORPHA:261265
Abeta Amyloidosis, Dutch Type
Stroke, Cerebral hemorrhage ORPHA:100006
Shprintzen-Goldberg Syndrome
Ventriculomegaly, Communicating hydrocephalus, Mitral regurgitation, Microcephaly, Umbilical hernia ORPHA:2462
Autoinflammatory Disease, Systemic, X-Linked
Cerebral hemorrhage OMIM:301081
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Unilateral renal agenesis, Hydrocephalus, Hypoplastic aortic arch, Ventriculomegaly ORPHA:457284
Lysinuric Protein Intolerance
Aminoaciduria, Pulmonary hemorrhage, Short stature, Stage 5 chronic kidney disease, Oroticaciduria OMIM:222700
Hypoplasminogenemia
Hydrocephalus, Nephrolithiasis, Dandy-Walker malformation ORPHA:722
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Pancreatic cysts, Nephritis, Renal cyst, Proteinuria, Renal insufficiency, Chronic kidney disease OMIM:208500
Costello Syndrome
Lymphangiectasis, High palate, Ventricular septal defect, Thick lower lip vermilion, Micrognathia... OMIM:218040
Dpagt1-Cdg
Prolonged QT interval, Intracranial hemorrhage, Microcephaly, Stroke-like episode ORPHA:86309
Osteogenesis Imperfecta, Type Vii
Absent pulmonary artery, Hypoplastic pulmonary veins, Long philtrum, Hydronephrosis OMIM:610682
Gaucher Disease
Pulmonary arterial hypertension, Ventriculomegaly, Short stature, Hydrocephalus, Hematuria, Abnor... ORPHA:355
Nelson Syndrome
Hypertension, Intracranial hemorrhage, Increased urinary cortisol level ORPHA:199244
Proteus Syndrome
Enlarged polycystic ovaries, Abnormal subcutaneous fat tissue distribution, Arteriovenous malform... ORPHA:744
Alkaptonuria
Aminoaciduria, Atherosclerosis, Hypertension, Myocardial infarction, Coronary artery calcificatio... ORPHA:56
Hallermann-Streiff Syndrome
Pulmonary arterial hypertension, Telangiectasia, Spina bifida, Hypertension, Microcephaly, Propor... OMIM:234100
Kanzaki Disease
Aminoaciduria, Petechiae, Increased urinary O-linked sialopeptides, Telangiectasia of the oral mu... OMIM:609242
Fanconi Anemia, Complementation Group N
Nephroblastoma, Ventricular septal defect OMIM:610832
Ciliary Dyskinesia, Primary, 1
Communicating hydrocephalus OMIM:244400
Citrullinemia, Type Ii, Adult-Onset
Argininosuccinic aciduria OMIM:603471
Xeroderma Pigmentosum
Aminoaciduria, Telangiectasia, Short stature, Conjunctival telangiectasia, Microcephaly, Telangie... ORPHA:910
Cerebellofaciodental Syndrome
Dental malocclusion, Macrodontia of permanent maxillary central incisor, Ventricular septal defec... OMIM:616202
Acys Amyloidosis
Stroke, Cerebral hemorrhage ORPHA:100008
Duodenal Neuroendocrine Tumor
Intestinal fistula, Hydronephrosis, Pulmonic stenosis, Tricuspid stenosis ORPHA:100076
Opsismodysplasia
Depressed nasal bridge, Short nose ORPHA:2746
Mend Syndrome
Crossed fused renal ectopia, Short stature, Hydrocephalus, Aortic valve stenosis, Dandy-Walker ma... OMIM:300960
Acute Liver Failure
Hypotension, Acute kidney injury, Abnormal bleeding, Intracranial hemorrhage, Bruising susceptibi... ORPHA:90062
Fructose Intolerance, Hereditary
Transient aminoaciduria, Proximal tubulopathy, Glycosuria, Hyperphosphaturia, Proximal renal tubu... OMIM:229600
Alpha-Mannosidosis, Infantile Form
Recurrent urinary tract infections, Macrocephaly, Communicating hydrocephalus, Aortic regurgitati... ORPHA:309282
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Knee flexion contracture, Enlarged naris, High palate, Long philtrum, Depressed nasal ridge, Micr... OMIM:271665
Cockayne Syndrome B
Normal pressure hydrocephalus, Hypertension, Severe short stature, Arrhythmia, Micropenis, Protei... OMIM:133540
Full Nf2-Related Schwannomatosis
Hydrocephalus, Myelopathy ORPHA:637
Noonan Syndrome 1
Patent ductus arteriosus, Dental malocclusion, High palate, Ventricular septal defect, Micrognath... OMIM:163950
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Tubulointerstitial nephritis, Aminoaciduria, Lacticaciduria, Hypertyrosinemia, Hypertrophic cardi... OMIM:124000
Waardenburg Syndrome, Type 1
Spina bifida, Myelomeningocele OMIM:193500
Lenz-Majewski Hyperostotic Dwarfism
Hydrocephalus, Macrocephaly, Epispadias, Severe short stature, Hypospadias, Abnormal penis morpho... ORPHA:2658
Immunodeficiency 96
Multicystic kidney dysplasia OMIM:619774
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Pulmonary arterial hypertension, Ventriculomegaly, Spontaneous, recurrent epistaxis, Hydrocephalu... ORPHA:2072
Tubulointerstitial Nephritis And Uveitis Syndrome
Tubulointerstitial nephritis, Aminoaciduria, Vitreous hemorrhage, Renal Fanconi syndrome, Beta 2-... ORPHA:91500
Neurodevelopmental Disorder With Language Delay And Seizures
Ventricular septal defect OMIM:619908
Mend Syndrome
Aortic valve stenosis, Short stature, Hydrocephalus, Dandy-Walker malformation ORPHA:401973
Diamond-Blackfan Anemia 12
Ventricular septal defect OMIM:615550
Lipodystrophy, Familial Partial, Type 7
Narrow nasal ridge, Reduced subcutaneous adipose tissue, Pulmonary arteriovenous malformation, De... OMIM:606721
Craniotubular Dysplasia, Ikegawa Type
Thick upper lip vermilion, Long philtrum, Ventricular septal defect, Wide nasal bridge, Thick low... OMIM:619727
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Patent ductus arteriosus, Ventricular septal defect, Coronary artery fistula, Unilateral renal ag... OMIM:620024
Von Hippel-Lindau Disease
Pancreatic cysts, Elevated urinary catecholamines, Renal cell carcinoma, Epididymal cyst, Multipl... ORPHA:892
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Macrocephaly, Communicating hydrocephalus, Ventriculomegaly OMIM:617011
Peroxisome Biogenesis Disorder 4B
Ureterocele, Short nose OMIM:614863
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Pericardial effusion, Hypertrophic cardiomyopathy, Persistent left superior vena cava, Ventricula... OMIM:618775
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Organic aciduria, Hyperglycinuria, Ketonuria OMIM:210210
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Flexion contracture, High palate, Ventricular septal defect, Long philtrum, Bicuspid aortic valve... OMIM:271640
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Flexion contracture, High palate, Ventricular septal defect, Corneal scarring, Open mouth OMIM:614653
Pseudoaminopterin Syndrome
Macrocephaly, Hydrocephalus, Horseshoe kidney, Short stature ORPHA:221120
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Patent foramen ovale, Ventricular septal defect, Rectoperineal fistula, Coarctation of aorta, Hyp... OMIM:618748
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
High palate, Ventricular septal defect, Wide nasal bridge, Microretrognathia, Depressed nasal bridge OMIM:619418
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Patent foramen ovale, Ventricular septal defect, Pericardial effusion, Dilated cardiomyopathy, At... ORPHA:26793
Neurofibromatosis Type 1
Short stature, Abnormality of the upper urinary tract, Hydrocephalus, Macrocephaly, Hypertension,... ORPHA:636
Argininemia
Oroticaciduria, Diaminoaciduria, Postnatal growth retardation OMIM:207800
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Methylmalonic aciduria, Homocystinuria OMIM:277410
Chilton-Okur-Chung Neurodevelopmental Syndrome
Patent ductus arteriosus, Crossed fused renal ectopia, Short stature, Recurrent urinary tract inf... OMIM:619841
Paget Disease Of Bone 2, Early-Onset
Hydroxyprolinuria OMIM:602080
Von Hippel-Lindau Syndrome
Pancreatic cysts, Multiple renal cysts, Renal cell carcinoma, Epididymal cyst OMIM:193300
Lysinuric Protein Intolerance
Tubulointerstitial nephritis, Hyperlysinuria, Abnormal renal tubule morphology, Ornithinuria, Abn... ORPHA:470
Argininosuccinic Aciduria
Oroticaciduria, Aminoaciduria OMIM:207900
Mucopolysaccharidosis Type 2
Abnormal aortic morphology, Short stature, Communicating hydrocephalus, Macrocephaly, Hypertensio... ORPHA:580
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Camptodactyly of finger, Ventricular hypertrophy, Flexion contracture, High palate, Ventricular s... OMIM:143095
Fetal Akinesia Deformation Sequence 1
Short umbilical cord, Hydrocephalus, Stillbirth, Small placenta, Intrauterine growth retardation OMIM:208150
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Partial atrioventricular canal defect, Ventricular septal defect, Bicuspid aortic valve, Secundum... OMIM:620066
Marfan Syndrome
Meningocele, Aortic tortuosity, Ascending tubular aorta aneurysm, Descending aortic dissection, C... ORPHA:558
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Micropenis, Macrocephaly, Communicating hydrocephalus, Ventriculomegaly ORPHA:457359
Pmm2-Cdg
Retrognathia, Mandibular prognathia, High palate, Multiple joint contractures, Long philtrum, Abn... ORPHA:79318
Interstitial Lung And Liver Disease
Aminoaciduria OMIM:615486
Combined Oxidative Phosphorylation Deficiency 15
Inguinal hernia, Ventricular septal defect, Ventricular septal hypertrophy OMIM:614947
Cryptococcosis
Hydrocephalus ORPHA:1546
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Ventricular septal defect, Atrial septal defect OMIM:610978
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Depressed nasal bridge, Ventricular septal defect OMIM:615503
Histidinemia
Histidinuria, Hyperhistidinemia ORPHA:2157
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Meningocele ORPHA:1010
Caroli Disease
Esophageal varix, Polycystic kidney dysplasia ORPHA:53035
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Pulmonic stenosis, Ventricular septal defect OMIM:615508
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Hydrocephalus, Ventriculomegaly, Microcephaly OMIM:253280
Wiedemann-Rautenstrauch Syndrome
Short stature, Hydrocephalus, Macrocephaly, Prominent scalp veins, Long penis, Hypospadias, Intra... OMIM:264090
Histidinemia
Histidinuria, Hyperhistidinemia OMIM:235800
Holt-Oram Syndrome
Patent ductus arteriosus, Secundum atrial septal defect, Hypoplastic left heart, Ventricular sept... OMIM:142900
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Spina bifida, Coarctation of aorta, Patent ductus arteriosus OMIM:619480
Coffin-Siris Syndrome 12
Noncommunicating hydrocephalus, Short stature, Heart murmur, Macrocephaly, Hypospadias, Horseshoe... OMIM:619325
Baller-Gerold Syndrome
Short stature, Abnormality of the kidney, Hydrocephalus, Spina bifida occulta, Severe short statu... OMIM:218600
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hydrocephalus, Short stature ORPHA:3042
Caroli Syndrome
Esophageal varix, Abnormality of the kidney, Polycystic kidney dysplasia ORPHA:480520
Acromesomelic Dysplasia 1
Short nose OMIM:602875
Ulnar-Mammary Syndrome
Ventricular septal defect, Hypodontia, Elbow flexion contracture, Pyloric stenosis, Anal atresia,... OMIM:181450
Eisenmenger Syndrome
Patent ductus arteriosus, Atrioventricular canal defect, Bacterial endocarditis, Renal insufficie... ORPHA:97214
Yunis-Varon Syndrome
Short upper lip, Patent foramen ovale, High palate, Ventricular septal defect, Premature loss of ... OMIM:216340
Familial Cerebral Cavernous Malformation
Venous malformation, Cerebral hemorrhage ORPHA:221061
Aspartylglucosaminuria
Aspartylglucosaminuria, Mitral regurgitation, Microcephaly, Short stature OMIM:208400
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Homocystinuria OMIM:601552
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Ventricular septal defect OMIM:259770
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Disproportionate short stature, Occipital meningocele, Hypospadias OMIM:276820

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Gldc

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Gldc.

There are 4 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Gldctm1a(EUCOMM)Wtsi PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Gldctm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Gldctm1a(EUCOMM)Wtsi PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Gldctm1a(EUCOMM)Wtsi PMC5827107

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MGI Allele Allele Type Produced
Gldctm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Gldcem1H Point Mutation Mice
Gldctm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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