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Gene: Dhx35 MGI:1918965

Gene Summary

Name:

DEAH (Asp-Glu-Ala-His) box polypeptide 35

Synonyms:

1200009D07Rik, Ddx35

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

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
preweaning lethality, complete penetrance		Dhx35^{tm1b(EUCOMM)Wtsi}	HOM		Early adult	0.00

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lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy	Images	Zygosity	Mutant Expr
Adrenal gland	N/A	heterozygote	0.0% (0 of 2)
Aorta	N/A	heterozygote	0.0% (0 of 2)
Blood vessel	N/A	heterozygote	0.0% (0 of 2)
Bone	N/A	heterozygote	0.0% (0 of 2)
Brain	N/A	heterozygote	0.0% (0 of 2)
Brainstem	N/A	heterozygote	0.0% (0 of 2)
Brown adipose tissue	N/A	heterozygote	0.0% (0 of 2)
Cartilage tissue	N/A	heterozygote	0.0% (0 of 2)
Cerebellum	N/A	heterozygote	0.0% (0 of 2)
Cerebral cortex	N/A	heterozygote	0.0% (0 of 2)
Eye	N/A	heterozygote	0.0% (0 of 2)
Gall bladder	N/A	heterozygote	0.0% (0 of 2)
Heart	N/A	heterozygote	0.0% (0 of 2)
Hippocampus	N/A	heterozygote	0.0% (0 of 2)
Hypothalamus	N/A	heterozygote	0.0% (0 of 2)
Kidney	N/A	heterozygote	50% (1 of 2)
Large intestine	N/A	heterozygote	0.0% (0 of 2)
Liver	N/A	heterozygote	0.0% (0 of 2)
Lower urinary tract	N/A	heterozygote	0.0% (0 of 2)
Lung	N/A	heterozygote	0.0% (0 of 2)
Lymph node	N/A	heterozygote	0.0% (0 of 2)
Mammary gland	N/A	heterozygote	0.0% (0 of 2)
Esophagus	N/A	heterozygote	0.0% (0 of 2)
Olfactory lobe	N/A	heterozygote	0.0% (0 of 2)
Ovary	N/A	heterozygote	0.0% (0 of 2)
Oviduct	N/A	heterozygote	0.0% (0 of 2)
Pancreas	N/A	heterozygote	0.0% (0 of 2)
Parathyroid gland	N/A	heterozygote	0.0% (0 of 2)
Peripheral nervous system	N/A	heterozygote	0.0% (0 of 2)
Peyer's patch	N/A	heterozygote	0.0% (0 of 2)
Pituitary gland	N/A	heterozygote	0.0% (0 of 2)
Prostate gland	N/A	heterozygote	0.0% (0 of 2)
Skeletal muscle tissue	N/A	heterozygote	0.0% (0 of 2)
Skin	N/A	heterozygote	0.0% (0 of 2)
Small intestine	N/A	heterozygote	0.0% (0 of 2)
Spinal cord	N/A	heterozygote	0.0% (0 of 2)
Spleen	N/A	heterozygote	0.0% (0 of 2)
Stomach	N/A	heterozygote	0.0% (0 of 2)
Striatum	N/A	heterozygote	0.0% (0 of 2)
Testis	N/A	heterozygote	50% (1 of 2)
Thymus	N/A	heterozygote	0.0% (0 of 2)
Thyroid gland	N/A	heterozygote	0.0% (0 of 2)
Trachea	N/A	heterozygote	0.0% (0 of 2)
Uterus	N/A	heterozygote	0.0% (0 of 2)
White adipose tissue	N/A	heterozygote	0.0% (0 of 2)

No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy	Background staining in controls (WT)
adrenal gland	0.67% (4 of 598)
aorta	0.17% (1 of 598)
blood vessel	0.0%
bone	0.0%
brain	0.84% (5 of 598)
brainstem	0.33% (2 of 598)
brown adipose tissue	0.0%
cartilage tissue	0.17% (1 of 598)
cerebellum	0.5% (3 of 598)
cerebral cortex	0.33% (2 of 598)
eye	0.0%
gall bladder	0.0%
heart	0.33% (2 of 598)
hippocampus	0.5% (3 of 598)
hypothalamus	0.33% (2 of 598)
kidney	4.52% (27 of 598)
large intestine	5.35% (32 of 598)
liver	0.0%
lower urinary tract	0.17% (1 of 598)
lung	0.33% (2 of 598)
lymph node	0.17% (1 of 598)
mammary gland	0.0%
oesophagus	0.0%
olfactory lobe	0.33% (2 of 598)
ovary	0.17% (1 of 598)
oviduct	0.0%
pancreas	0.84% (5 of 598)
parathyroid gland	0.17% (1 of 576)
peripheral nervous system	0.33% (2 of 598)
peyer's patch	0.57% (1 of 176)
pituitary gland	0.17% (1 of 598)
prostate gland	2.17% (13 of 598)
skeletal muscle tissue	0.0%
skin	0.17% (1 of 598)
small intestine	5.35% (32 of 598)
spinal cord	0.5% (3 of 598)
spleen	0.5% (3 of 598)
stomach	3.68% (22 of 598)
striatum	0.5% (3 of 598)
testis	1% (6 of 598)
thymus	0.17% (1 of 598)
thyroid gland	3.01% (18 of 598)
trachea	0.5% (3 of 598)
uterus	0.33% (2 of 598)
white adipose tissue	0.0%

No Embryo expression data was found for this gene.

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 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 Skull Dorso Ventral Orientation

14 Images

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DSS Histology

Images

8 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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Anti-nuclear antibody assay

Images

6 Images

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Eye Morphology

Images Slit Lamp

1 Images

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Ear epidermis immunophenotyping

Images

12 Images

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Legacy Phenotype Associated Images

Dhx35^{tm1b(EUCOMM)Wtsi}
HET, Male, WTSI

View all 120 images

Dhx35^{tm1b(EUCOMM)Wtsi}
HOM, Male, WTSI

Dhx35^{tm1b(EUCOMM)Wtsi}
TS20 heart, HET, Male, WTSI

Dhx35^{tm1b(EUCOMM)Wtsi}
TS20 chorioallantoic placenta, HET, Female, WTSI

Dhx35^{tm1b(EUCOMM)Wtsi}
TS20 heart, HET, Female, WTSI

Dhx35^{tm1b(EUCOMM)Wtsi}
eyelids fail to open, HET, Female, WTSI

Human diseases caused by Dhx35 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.

Human diseases associated with Dhx35 (0 diseases)
Human diseases predicted to be associated with Dhx35 (847 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Dhx35 by phenotypic similarity.

Disease	Matching phenotypes	Source
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Underdeveloped nasal alae, Abnormal aortic morphology, Truncus arteriosus, Ventricular septal def...	ORPHA:2516
14Q24.1Q24.3 Microdeletion Syndrome	Truncus arteriosus, Wide nasal bridge, Ventricular septal defect, Synophrys, Atrial septal defect...	ORPHA:401935
Genitopalatocardiac Syndrome	Double outlet right ventricle, Transposition of the great arteries, Right aortic arch, Ventricula...	OMIM:231060
Heterotaxy, Visceral, 4, Autosomal	Atrioventricular canal defect, Ventricular septal defect, Common atrium, Transposition of the gre...	OMIM:613751
Ritscher-Schinzel Syndrome 1	Double outlet right ventricle, Decreased response to growth hormone stimulation test, Coloboma, V...	OMIM:220210
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Underdeveloped nasal alae, Hydranencephaly, Truncus arteriosus, Ventricular septal defect	OMIM:601355
Holoprosencephaly 5	Syntelencephaly, Lateral ventricle dilatation, Synophrys, Hydrocephalus, Semilobar holoprosenceph...	OMIM:609637
Ciliary Dyskinesia, Primary, 40	Patent ductus arteriosus, Congenitally corrected transposition of the great arteries, Atrioventri...	OMIM:618300
Congenital Heart Defects, Multiple Types, 6	Double outlet right ventricle, Hypoplastic pulmonary veins, Ventricular septal defect, Secundum a...	OMIM:613854
Atrioventricular Septal Defect, Susceptibility To, 2	Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran...	OMIM:606217
Double Outlet Right Ventricle	Double outlet right ventricle, Truncus arteriosus, Ventricular septal defect, Aplasia/Hypoplasia ...	ORPHA:3426
Fallot Complex With Severe Mental And Growth Retardation	Double outlet right ventricle, Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect	OMIM:601127
Microform Holoprosencephaly	Hypothyroidism, Maternal diabetes, Panhypopituitarism, Short nose, Midnasal stenosis, Narrow nasa...	ORPHA:280200
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Patent ductus arteriosus, Double outlet right ventricle, Patent foramen ovale, Prominent nose, Ve...	OMIM:618316
Skraban-Deardorff Syndrome	Sparse lateral eyebrow, Ventricular septal defect, Depressed nasal bridge, Anteverted nares, Righ...	OMIM:617616
Stankiewicz-Isidor Syndrome	Patent ductus arteriosus, Sacral dimple, Prominent nose, Truncus arteriosus, Ventricular septal d...	OMIM:617516
Conotruncal Heart Malformations	Double outlet right ventricle, Truncus arteriosus, Coarctation of aorta, Complete atrioventricula...	OMIM:217095
Scimitar Syndrome	Truncus arteriosus, Abnormal vena cava morphology, Double outlet right ventricle, Ventricular sep...	ORPHA:185
Aorta Coarctation	Patent ductus arteriosus, Aortic valve atresia, Perimembranous ventricular septal defect, Interru...	ORPHA:1457
Pseudotrisomy 13 Syndrome	Encephalocele, Ventricular septal defect, Hydrocephalus, Atrial septal defect, Coarctation of aor...	OMIM:264480
Johnson Neuroectodermal Syndrome	Patent ductus arteriosus, Alopecia, Choanal stenosis, Ventricular septal defect, Decreased testic...	OMIM:147770
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Perimembranous ventricular septal defect, Synophrys, Short nose, Spina bifida occulta, Spondyloli...	OMIM:617877
Ciliary Dyskinesia, Primary, 37	Hypothyroidism, Chronic rhinitis, Situs inversus totalis, Dextrocardia, Right aortic arch, Goiter	OMIM:617577
Emanuel Syndrome	Patent ductus arteriosus, Sacral dimple, Truncus arteriosus, Kyphosis, Ventricular septal defect,...	OMIM:609029
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Patent ductus arteriosus, Double outlet right ventricle, Vertebral fusion, Sacral dimple, Vertebr...	OMIM:618845
Chromosome 22Q11.2 Deletion Syndrome, Distal	Underdeveloped nasal alae, Highly arched eyebrow, Truncus arteriosus	OMIM:611867
Microphthalmia, Syndromic 9	Patent ductus arteriosus, Truncus arteriosus, Wide nasal bridge, Ventricular septal defect, Hypop...	OMIM:601186
Thanatophoric Dysplasia Type 2	Patent ductus arteriosus, Encephalocele, Kyphosis, Hydrocephalus, Atrial septal defect, Depressed...	ORPHA:93274
Distal Monosomy 13Q	Encephalocele, Abnormal cardiac septum morphology, Optic atrophy, Anencephaly, Primary adrenal in...	ORPHA:1590
Recombinant Chromosome 8 Syndrome	Patent ductus arteriosus, Double outlet right ventricle, Ventricular septal defect, Atrial septal...	OMIM:179613
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Patent ductus arteriosus, Ventricular septal defect, Hydrocephalus, Abnormal vertebral morphology...	ORPHA:77298
Aminopterin/Methotrexate Embryofetopathy	Meningocele, Spinal dysraphism, Encephalocele, Ventricular septal defect, Wide nasal bridge, Anen...	ORPHA:1908
Heterotaxy, Visceral, 7, Autosomal	Atrioventricular canal defect, Mitral atresia, Abnormal cardiac septum morphology, Common atrium,...	OMIM:616749
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Coloboma, Anterior encephalocele, Ventricular septal defect, Holoprosencephaly, Scoliosis, Omphal...	OMIM:601357
Snijders Blok-Campeau Syndrome	Prominent nose, Wide nasal bridge, Perimembranous ventricular septal defect, Atrial septal defect...	OMIM:618205
Emanuel Syndrome	Patent ductus arteriosus, Sacral dimple, Truncus arteriosus, Ventricular septal defect, Hypogonad...	ORPHA:96170
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Atrioventricular canal defect, Truncus arteriosus, Wide nasal bridge, Coloboma, Abnormal optic di...	ORPHA:508498
Holoprosencephaly	Spinal dysraphism, Optic atrophy, Anterior hypopituitarism, Synophrys, Iris coloboma, Short neck,...	ORPHA:2162
Mitochondrial Complex I Deficiency, Nuclear Type 39	Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardiomyopathy, Cryp...	OMIM:620135
Structural Heart Defects And Renal Anomalies Syndrome	Truncus arteriosus, Ventricular septal defect, Interrupted aortic arch, Atrial septal defect, Par...	OMIM:617478
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation	Right aortic arch with mirror image branching	OMIM:107500
Sandestig-Stefanova Syndrome	Convex nasal ridge, Wide nasal bridge, Perimembranous ventricular septal defect, Wide intermamill...	OMIM:618804
Meacham Syndrome	Patent ductus arteriosus, Cardiac total anomalous pulmonary venous connection, Ventricular septal...	OMIM:608978
Truncus Arteriosus	Hypoplasia of the thymus, Truncus arteriosus, Pulmonary artery stenosis, Ventricular septal defec...	ORPHA:3384
Cardiac Septal Defects With Coarctation Of The Aorta	Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta	OMIM:212090
Heterotaxy, Visceral, 6, Autosomal	Double outlet right ventricle, Unbalanced atrioventricular canal defect, Hypoplastic left heart, ...	OMIM:614779
Congenital Heart Defects, Multiple Types, 7	Absence of the pulmonary valve, Double aortic arch, Tetralogy of Fallot, Pulmonary artery atresia...	OMIM:618780
10Q22.3Q23.3 Microdeletion Syndrome	Patent ductus arteriosus, Atrioventricular canal defect, Breast aplasia, Depressed nasal bridge, ...	ORPHA:276413
Chromosome 9P Deletion Syndrome	Patent ductus arteriosus, Ventricular septal defect, Wide nasal bridge, Perimembranous ventricula...	OMIM:158170
Ring Chromosome 21 Syndrome	Diabetes insipidus, Thoracic hemivertebrae, Holoprosencephaly, Abnormal heart morphology, Scolios...	ORPHA:1445
Congenital Heart Defects, Multiple Types, 5	Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomy...	OMIM:617912
Cleft-Limb-Heart Malformation Syndrome	Truncus arteriosus	OMIM:215850
Congenital Disorder Of Glycosylation, Type Ih	Patent ductus arteriosus, Hypothyroidism, Perimembranous ventricular septal defect, Short neck, D...	OMIM:608104
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Double outlet right ventricle, Premature thelarche, Ventricular septal defect, Bicuspid aortic va...	ORPHA:371428
Meier-Gorlin Syndrome 7	Wide anterior fontanel, Ventricular septal defect, Vertebral segmentation defect, Thin eyebrow, B...	OMIM:617063
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Sacral dimple, Underdeveloped nasal alae, Hypothyroidism, Premature thelarche, Decreased response...	ORPHA:268261
Atrioventricular Septal Defect 5	Hypoplastic left heart, Atrioventricular canal defect, Muscular ventricular septal defect	OMIM:614474
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Patent ductus arteriosus, Ventricular septal defect, Vascular ring, Hydrocele testis, Atrial sept...	OMIM:601927
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Patent ductus arteriosus, High anterior hairline, Perimembranous ventricular septal defect, Atria...	ORPHA:363444
Congenitally Uncorrected Transposition Of The Great Arteries	Patent ductus arteriosus, Levotransposition of the great arteries, Ventricular septal defect, Abn...	ORPHA:860
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Patent ductus arteriosus, Double outlet right ventricle, Wide nasal bridge, Frontal hirsutism, At...	ORPHA:3304
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	High anterior hairline, Sparse eyebrow, Ventricular septal defect, Perimembranous ventricular sep...	OMIM:600987
Sotos Syndrome	Patent ductus arteriosus, High anterior hairline, Sparse eyebrow, Enlarged naris, Ventricular sep...	OMIM:117550
Heterotaxy, Visceral, 12, Autosomal	Double outlet right ventricle, Patent foramen ovale, Ventricular septal defect, Left superior ven...	OMIM:619702
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Wide nose, Cleft ala nasi, Decreased testicular size, Narrow nasal base, Breast aplasia, Type I d...	ORPHA:3044
Holoprosencephaly 13, X-Linked	Patent ductus arteriosus, Double outlet right ventricle, Vertebral clefting, Patent foramen ovale...	OMIM:301043
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Sparse eyebrow, Wide nasal bridge, Pericardial effusion, Aortic aneurysm, Atrial septal defect, M...	OMIM:620070
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Anomalous origin of left pulmonary artery from ascending aorta, Patent ductus arteriosus, Aortopu...	ORPHA:99050
Long Qt Syndrome 16	Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect	OMIM:618782
Velocardiofacial Syndrome	Underdeveloped nasal alae, Ventricular septal defect, Interrupted aortic arch, Bulbous nose, Doub...	OMIM:192430
Acrocardiofacial Syndrome	Hyperthyroidism, Ventricular septal defect, Truncus arteriosus, Wide nasal bridge, Mitral stenosi...	ORPHA:2008
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Optic atrophy, Spinal rigidity, Hydrocephalus, Dilated cardiomyopathy, Atrial sept...	OMIM:253800
Neurodevelopmental Disorder With Poor Growth, Spastic Tetraplegia, And Hearing Loss	Muscular ventricular septal defect, Thick eyebrow, Long nasal bridge, Cryptorchidism	OMIM:620071
Adams-Oliver Syndrome 6	Splenomegaly, Truncus arteriosus, Ventricular septal defect	OMIM:616589
Pallister-Hall Syndrome	Patent ductus arteriosus, Hypothalamic hamartoma, Precocious puberty, Decreased response to growt...	OMIM:146510
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Ventricular septal defect, Kyphosis, Vascular ring, Hydrocephalus, Atrial septal defect, Thoracic...	OMIM:603387
Heterotaxy, Visceral, 1, X-Linked	Subvalvular aortic stenosis, Atrioventricular canal defect, Asplenia, Right atrial isomerism, Dou...	OMIM:306955
Incontinentia Pigmenti	Atrophic, patchy alopecia, Alopecia, Optic atrophy, Breast aplasia, Supernumerary nipple, Fine ha...	OMIM:308300
Chromosome 1Q41-Q42 Deletion Syndrome	Sparse eyebrow, Ventricular septal defect, Vertebral segmentation defect, Supernumerary nipple, D...	OMIM:612530
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Optic disc pallor, Perimembranous ventricular septal defect	OMIM:619170
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Wide nose, Double outlet right ventricle, Patent foramen ovale, Decreased number of peripheral my...	ORPHA:477817
Heterotaxy, Visceral, 8, Autosomal	Double outlet right ventricle, Unbalanced atrioventricular canal defect, Ventricular septal defec...	OMIM:617205
Neurodevelopmental Disorder And Language Delay With Or Without Structural Brain Abnormalities	Atrial septal defect, Inguinal hernia, Muscular ventricular septal defect, Broad nasal tip, Umbil...	OMIM:618354
Distal Monosomy 7Q36	Optic atrophy, Wide intermamillary distance, Holoprosencephaly, Short neck, Cryptorchidism, Bulbo...	ORPHA:1636
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Absent nares, Aplasia/Hypoplasia involving the nose, Aplasia/Hypoplasia of the eyebrow, Holoprose...	ORPHA:990
Kallmann Syndrome-Heart Disease Syndrome	Double outlet right ventricle, Total anosmia, Decreased testicular size, Bilateral cryptorchidism...	ORPHA:2326
Cayler Cardiofacial Syndrome	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	OMIM:125520
Arnold-Chiari Malformation Type I	Abnormality of the eleventh cranial nerve, Cranial nerve compression, Fused cervical vertebrae, A...	ORPHA:268882
Combined Oxidative Phosphorylation Deficiency 25	Vascular dilatation, Decreased response to growth hormone stimulation test, Wide nasal bridge, Sh...	OMIM:616430
3C Syndrome	Atrioventricular canal defect, Wide nasal bridge, Optic atrophy, Iris coloboma, Short neck, Ventr...	ORPHA:7
Tricuspid Atresia	Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Coarctation of aorta, Hypo...	ORPHA:1209
Heart Defects, Congenital, And Other Congenital Anomalies	Patent ductus arteriosus, Patent foramen ovale, Absent gallbladder, Pancreatic hypoplasia, Truncu...	OMIM:600001
Cardiac Valvular Dysplasia 1	Patent foramen ovale, Left aortic arch with cervical origin of the right subclavian artery, Ventr...	OMIM:212093
Rubinstein-Taybi Syndrome 1	Convex nasal ridge, Premature thelarche, Coloboma, Wide nasal bridge, Broad eyebrow, Frontal hirs...	OMIM:180849
22Q11.2 Deletion Syndrome	Meningocele, Hypothyroidism, Hypoplasia of the thymus, Truncus arteriosus, Wide nasal bridge, Opt...	ORPHA:567
Triploidy	Meningocele, Abnormal cardiac septum morphology, Hydrocephalus, Iris coloboma, Short neck, Holopr...	ORPHA:3376
Phaver Syndrome	Myelomeningocele, Ventricular septal defect, Butterfly vertebrae, Coarctation of aorta, Depressed...	ORPHA:2876
Barber-Say Syndrome	Aplasia/Hypoplasia of the eyebrow, Wide nasal bridge, Breast aplasia, Anteverted nares, Bulbous n...	ORPHA:1231
Linear Skin Defects With Multiple Congenital Anomalies 2	Ventricular hypertrophy, Optic disc pallor, Wide intermamillary distance, Atrial septal defect, S...	OMIM:300887
14Q11.2 Microdeletion Syndrome	Patent ductus arteriosus, Sparse lateral eyebrow, Ventricular septal defect, Short nose, Depresse...	ORPHA:261120
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Wide nose, Fused cervical vertebrae, Butterfly vertebrae, Spina bifida occulta, Muscular ventricu...	OMIM:619227
22Q11.2 Duplication Syndrome	Wide nose, Depressed nasal ridge, Ventricular septal defect, Aplasia/Hypoplasia of the thymus, In...	ORPHA:1727
Ulnar-Mammary Syndrome	Ventricular septal defect, Breast aplasia, Delayed puberty, Cryptorchidism, Hypoplastic nipples, ...	ORPHA:3138
Partial Atrioventricular Septal Defect	Patent ductus arteriosus, Double outlet right ventricle, Partial atrioventricular canal defect, B...	ORPHA:1330
Distal 22Q11.2 Microdeletion Syndrome	Underdeveloped nasal alae, Hyperlordosis, Truncus arteriosus, Ventricular septal defect, Aortic a...	ORPHA:261330
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome	Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta	ORPHA:228190
Fetal Trimethadione Syndrome	Ventricular septal defect, Synophrys, Atrial septal defect, Short nose, Depressed nasal bridge, S...	ORPHA:1913
Holoprosencephaly 14	Double outlet right ventricle, Aortic valve atresia, Ventricular septal defect, Aqueductal stenos...	OMIM:619895
Ciliary Dyskinesia, Primary, 39	Double outlet right ventricle, Dextrocardia	OMIM:618254
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Short neck, Abnormal vertebral morphology, Anteverted nares, Short nose	ORPHA:2015
Renal-Hepatic-Pancreatic Dysplasia 2	Asplenia, Truncus arteriosus, Hypertrophic cardiomyopathy, Situs inversus totalis, Stillbirth, Ao...	OMIM:615415
Halperin-Birk Syndrome	Optic atrophy, Perimembranous ventricular septal defect, Long eyelashes, Semilobar holoprosenceph...	OMIM:618651
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
Scalp-Ear-Nipple Syndrome	Lateral ventricle dilatation, Sparse axillary hair, Aplasia/Hypoplasia of the nipples, Breast apl...	OMIM:181270
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Absent gallbladder, Aplasia of the nose, Vertebral segmentation defect, Iris coloboma, Tetralogy ...	ORPHA:3186
16P13.11 Microdeletion Syndrome	Ventricular septal defect, Atrial septal defect, Short nose, Depressed nasal bridge, Holoprosence...	ORPHA:261236
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Ventricular septal defect, Kyphosis, Perimembranous ventricular septal defect, Short nose, Kyphos...	OMIM:301040
Acalvaria	Spina bifida, Omphalocele, Holoprosencephaly, Hydrocephalus	ORPHA:945
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Abnormal cardiac septum morphology, Scoliosis, Abnormal form of the vertebral bodies, Short nose	ORPHA:2370
Monosomy 18P	Hypothyroidism, Alopecia, Wide nasal bridge, Wide intermamillary distance, Kyphoscoliosis, Short ...	ORPHA:1598
Leydig Cell Hypoplasia	Primary gonadal insufficiency, Testicular gonadoblastoma, Female hypogonadism, Hyoplasia of the L...	ORPHA:755
Primary Ciliary Dyskinesia	Double outlet right ventricle, Nasal congestion, Asplenia, Polysplenia, Hydrocephalus, Nasal poly...	ORPHA:244
Peroxisome Biogenesis Disorder 12A (Zellweger)	Patent ductus arteriosus, Double outlet right ventricle, Prominent nose, Wide anterior fontanel, ...	OMIM:614886
Charge Syndrome	Hypothyroidism, Gonadotropin deficiency, Coloboma, Secundum atrial septal defect, Iris coloboma, ...	OMIM:214800
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies	Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta	OMIM:604381
Ventricular Septal Defect 2	Perimembranous ventricular septal defect	OMIM:614431
Alg12-Cdg	Patent ductus arteriosus, Wide nose, Patent foramen ovale, Inverted nipples, Recurrent pharyngiti...	ORPHA:79324
Congenital Heart Defects, Multiple Types, 4	Atrioventricular canal defect, Ventricular septal defect, Coarctation of aorta, Hypoplastic left ...	OMIM:615779
Even-Plus Syndrome	Vertebral clefting, Patent foramen ovale, Depressed nasal ridge, Synophrys, Agenesis of corpus ca...	OMIM:616854
Solitary Median Maxillary Central Incisor	Decreased response to growth hormone stimulation test, Coloboma, Anterior hypopituitarism, Choana...	OMIM:147250
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Vertebral clefting, Wide nasal bridge, Synophrys, Lobar holoprosencephaly, Short nose, Thick eyeb...	OMIM:614701
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	High anterior hairline, Muscular ventricular septal defect, Sparse scalp hair, Hydrocele testis	OMIM:620062
Microphthalmia, Isolated, With Coloboma 5	Iris coloboma, Holoprosencephaly, Chorioretinal coloboma	OMIM:611638
Short-Rib Thoracic Dysplasia 12	Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Wide intermamillary di...	OMIM:269860
Brachytelephalangic Chondrodysplasia Punctata	Vertebral hypoplasia, Butterfly vertebrae, Optic nerve hypoplasia, Hypoplastic cervical vertebrae...	ORPHA:79345
Holoprosencephaly 11	Synophrys, Polysplenia, Holoprosencephaly, Thick eyebrow, Agenesis of corpus callosum	OMIM:614226
Monosomy 18Q	Patent ductus arteriosus, Hypothyroidism, Choanal stenosis, Prominent nose, Absence of the pulmon...	ORPHA:1600
Yuan-Harel-Lupski Syndrome	Aortic root aneurysm, Double outlet right ventricle, Wide nose, Ventricular septal defect, Bicusp...	OMIM:616652
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Patent ductus arteriosus, Double outlet right ventricle, Decreased response to growth hormone sti...	OMIM:618223
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Double outlet right ventricle, Ventricular septal defect, Butterfly vertebrae, Optic nerve hypopl...	OMIM:301056
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Patent ductus arteriosus, Double outlet right ventricle, Asplenia, Unbalanced atrioventricular ca...	OMIM:619657
Absence Of The Pulmonary Artery	Patent ductus arteriosus, Patent foramen ovale, Cardiomegaly, Truncus arteriosus, Abnormal cardia...	ORPHA:980
Ogden Syndrome	Wide nasal bridge, Secundum atrial septal defect, Prominent nasolabial fold, Short neck, Pulmonar...	OMIM:300855
Diabetic Embryopathy	Abnormal aortic morphology, Spinal dysraphism, Ventricular septal defect, Vertebral segmentation ...	ORPHA:1926
17Q21.31 Microduplication Syndrome	Synophrys, Short nose, Delayed puberty, Anteverted nares, Thick eyebrow, Generalized hirsutism	ORPHA:217340
Holoprosencephaly 7	Wide nasal bridge, Synophrys, Lobar holoprosencephaly, Iris coloboma, Holoprosencephaly, Hypoplas...	OMIM:610828
Cardiospondylocarpofacial Syndrome	Patent foramen ovale, Ventricular septal defect, Wide nasal bridge, Decreased testicular size, Fu...	OMIM:157800
Hypohidrotic Ectodermal Dysplasia	Aplasia/Hypoplasia of the eyebrow, Trichorrhexis nodosa, Generalized hypopigmentation of hair, Br...	ORPHA:238468
Charge Syndrome	Aortic arch aneurysm, Abnormal cardiac septum morphology, Optic atrophy, Anterior hypopituitarism...	ORPHA:138
Cardiomyopathy, Dilated, 1S	Interstitial cardiac fibrosis, Perimembranous ventricular septal defect, Ebstein anomaly of the t...	OMIM:613426
Jacobsen Syndrome	Ventricular septal defect, Optic atrophy, Annular pancreas, Hydrocephalus, Atrial septal defect, ...	OMIM:147791
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Myofiber disarray, Transient ischemic attack, Pericardial effusion, Vent...	OMIM:115197
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Ascending tubular aorta aneurysm, Truncus arteriosus, Synophrys, Frontal balding, Short neck, Pro...	OMIM:612474
Benign Schwannoma	Abnormal parotid gland morphology, Abnormality of the breast, Nasal polyposis, Scleral schwannoma...	ORPHA:252164
Congenital Disorder Of Glycosylation, Type Iie	Wide nose, Inverted nipples, Perimembranous ventricular septal defect, Secundum atrial septal def...	OMIM:608779
Estrogen Resistance	Increased serum estradiol, Hyperinsulinemia, Breast aplasia, Delayed puberty, Polycystic ovaries,...	OMIM:615363
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Lateral ventricle dilatation, Short neck, Cleft vertebral arch, Sparse eyelashes, Sparse hair, Pa...	OMIM:210710
Gillespie Syndrome	Truncus arteriosus, Aniridia	OMIM:206700
Aortic Arch Interruption	Patent ductus arteriosus, Double outlet right ventricle, Abnormal ascending aorta morphology, Aor...	ORPHA:2299
Congenital Gerbode Defect	Vascular dilatation, Bacterial endocarditis, Ventricular septal defect, Perimembranous ventricula...	ORPHA:99095
8Q24.3 Microdeletion Syndrome	Atrioventricular canal defect, Truncus arteriosus, Wide nasal bridge, Optic nerve hypoplasia, Spi...	ORPHA:508488
Fryns Syndrome	Abnormal aortic morphology, Wide nasal bridge, Abnormal cardiac septum morphology, Wide intermami...	ORPHA:2059
Verheij Syndrome	Vertebral fusion, Coloboma, Wide nasal bridge, Abnormal cardiac septum morphology, Short nose, Sh...	OMIM:615583
Maternal Phenylketonuria	Double outlet right ventricle, Ventricular septal defect, Wide nasal bridge, Coarctation of aorta...	ORPHA:2209
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Abnormal aortic morphology, Ventricular septal defect, Vertebral segmentation defect, Abnormality...	ORPHA:1166
Digeorge Syndrome	Hypothyroidism, Hypoplasia of the thymus, Truncus arteriosus, Recurrent sinusitis, Parathyroid hy...	OMIM:188400
Isotretinoin-Like Syndrome	Patent ductus arteriosus, Conotruncal defect, Bicuspid aortic valve, Hydrocephalus, Abnormal aort...	ORPHA:2306
Autosomal Dominant Coarctation Of Aorta	Patent ductus arteriosus, Aortic arch aneurysm, Ventricular septal defect, Abnormal aortic arch m...	ORPHA:1455
Agnathia-Otocephaly Complex	Wide nose, Secundum atrial septal defect, Holoprosencephaly, Situs inversus totalis, Agenesis of ...	OMIM:202650
49,Xxxxy Syndrome	Wide nose, Depressed nasal ridge, Hypogonadism, Decreased testicular size, Type II diabetes melli...	ORPHA:96264
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Patent ductus arteriosus, Double outlet right ventricle, Mitral atresia, Abnormal number of hair ...	OMIM:618164
Congenital Tracheomalacia	Patent ductus arteriosus, Cardiomegaly, Ventricular septal defect, Single ventricle, Atrial septa...	ORPHA:95430
Bullous Lichen Planus	Breast aplasia	ORPHA:33408
Lambotte Syndrome	Convex nasal ridge, Semilobar holoprosencephaly, Ventricular septal defect	OMIM:245552
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Subvalvular aortic stenosis, Medial flaring of the eyebrow, Ischemic stroke, Ascending aorta hypo...	OMIM:619503
Gapo Syndrome	Alopecia, Sparse eyebrow, Wide anterior fontanel, Optic atrophy, Retinal arteriolar tortuosity, P...	OMIM:230740
8P23.1 Microdeletion Syndrome	Patent ductus arteriosus, Atrioventricular canal defect, Abnormal aortic morphology, Wide nasal b...	ORPHA:251071
Combined Pituitary Hormone Deficiencies, Genetic Forms	Optic nerve hypoplasia, Holoprosencephaly, Decreased cervical spine mobility, Delayed puberty, Ec...	ORPHA:95494
Hydrocephalus, Congenital, 3, With Brain Anomalies	Hydranencephaly, Holoprosencephaly, Hydrocephalus	OMIM:617967
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Hydranencephaly, Holoprosencephaly, Short neck	ORPHA:2570
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Hypothyroidism, Dry hair, Wide nasal bridge, Muscular ventricular septal defect, Dysplastic corpu...	OMIM:618569
Developmental And Epileptic Encephalopathy 73	Inguinal hernia, Narrow nasal bridge, Scoliosis, Short nose	OMIM:618379
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Sacral dimple, Wide nose, Ventricular septal defect, Wide nasal bridge, Lateral ventricle dilatat...	OMIM:619995
Baraitser-Winter Syndrome 1	Patent ductus arteriosus, Wide nasal bridge, Low posterior hairline, Bicuspid aortic valve, Short...	OMIM:243310
Cardiomyopathy, Dilated, 2D	Patent foramen ovale, Interstitial cardiac fibrosis, Dilated cardiomyopathy, Muscular ventricular...	OMIM:619371
Congenitally Corrected Transposition Of The Great Arteries	Bilateral superior vena cava with bridging vein, Abnormal left ventricular outflow tract morpholo...	ORPHA:216694
Phace Syndrome	Aortic root aneurysm, Hypothyroidism, Abnormal cerebral artery morphology, Abnormal cardiac septu...	ORPHA:42775
Right Atrial Isomerism	Right atrial isomerism, Asplenia, Ventricular septal defect, Common atrium, Polysplenia, Atrial s...	OMIM:208530
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Patent ductus arteriosus, Increased intervertebral space, Short nose, Depressed nasal bridge, Lum...	OMIM:618961
16P13.11 Microduplication Syndrome	Ventricular septal defect, Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Trans...	ORPHA:261243
Chromosome 13Q14 Deletion Syndrome	Patent foramen ovale, Ventricular septal defect, Agenesis of corpus callosum, Supernumerary nippl...	OMIM:613884
Chromosome 3Q13.31 Deletion Syndrome	Decreased testicular size, Alobar holoprosencephaly, Agenesis of corpus callosum, Cryptorchidism	OMIM:615433
Non-Distal Trisomy 10Q	Convex nasal ridge, Short nose, Depressed nasal bridge, Scoliosis, Cryptorchidism	ORPHA:1695
Ventricular Septal Defect 1	Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Tetralogy of Fall...	OMIM:614429
Burn-Mckeown Syndrome	Abnormal cardiac septum morphology, Wide nasal bridge, Short nose, Bilateral choanal atresia, Pro...	ORPHA:1200
Moebius Syndrome	Hypogonadotropic hypogonadism, Abnormality of the sense of smell, Breast aplasia, Facial palsy	ORPHA:570
Holoprosencephaly 2	Diabetes insipidus, Aplasia of the nasal bone, Proboscis, Absent nasal septal cartilage, Semiloba...	OMIM:157170
Chromosome 10Q22.3-Q23.2 Deletion Syndrome	Breast aplasia	OMIM:612242
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma	Retinal coloboma, Interrupted aortic arch, Coarctation of aorta, Macular coloboma, Facial palsy	OMIM:107550
Microhydranencephaly, X-Linked	Holoprosencephaly	OMIM:306990
Mental retardation, x-linked, syndromic, Turner type	Macroorchidism, Holoprosencephaly	OMIM:300706
Igg4-Related Aortitis	Ascending tubular aorta aneurysm, Low back pain, Abnormal common carotid artery morphology, Dilat...	ORPHA:449400
Steinfeld Syndrome	Absent gallbladder, Aplasia of the nose, Abnormal vertebral morphology, Iris coloboma, Holoprosen...	OMIM:184705
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Right aortic arch, Coarctation of aorta	OMIM:140850
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Convex nasal ridge, Arteriovenous malformation, Abnormal aortic arch morphology, Overriding aorta...	ORPHA:1110
Donnai-Barrow Syndrome	Ventricular septal defect, Wide anterior fontanel, Widow's peak, Short nose, Depressed nasal brid...	ORPHA:2143
Femoral-Facial Syndrome	Underdeveloped nasal alae, Truncus arteriosus, Ventricular septal defect, Maternal diabetes, Shor...	OMIM:134780
Proteus Syndrome	Spinal canal stenosis, Kyphoscoliosis, Depressed nasal bridge, Venous malformation, Splenomegaly,...	OMIM:176920
Heterotaxy, Visceral, 2, Autosomal	Double outlet right ventricle, Atrioventricular canal defect, Asplenia, Left atrial isomerism, Bi...	OMIM:605376
Laubry-Pezzi Syndrome	Patent ductus arteriosus, Patent foramen ovale, Ascending tubular aorta aneurysm, Ventricular sep...	ORPHA:99094
Trisomy 18	Ventricular septal defect, Spina bifida, Anencephaly, Atrial septal defect, Short nose, Iris colo...	ORPHA:3380
Frontonasal Dysplasia 1	Anterior basal encephalocele, Cranium bifidum occultum, Coloboma, Wide nasal bridge, Widow's peak...	OMIM:136760
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome	Holoprosencephaly	ORPHA:2523
Pierpont Syndrome	Wide nose, High anterior hairline, Wide intermamillary distance, Abnormal peripheral nervous syst...	OMIM:602342
Holoprosencephaly-Postaxial Polydactyly Syndrome	Absent nares, Encephalocele, Abnormal cardiac septum morphology, Hydrocephalus, Thyroid hypoplasi...	ORPHA:2166
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Aplasia/Hypoplasia of the eyebrow, Sparse scalp hair, Hydrocephalus, Short nose, Hypertrophic car...	ORPHA:2701
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Patent ductus arteriosus, Wide intermamillary distance, Hydrocephalus, Short nose, Short columell...	ORPHA:171839
8P23.1 Duplication Syndrome	Wide nose, Ventricular septal defect, Adrenal insufficiency, Tetralogy of Fallot, Highly arched e...	ORPHA:251076
X-Linked Intellectual Disability, Nascimento Type	Patent ductus arteriosus, Double outlet right ventricle, Underdeveloped nasal alae, Patent forame...	ORPHA:163956
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Wide nasal bridge, Hydrocephalus, Long eyelashes, Short nose, Scoliosis, Anteverted nares, Crypto...	OMIM:618577
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Abnormality of the anterior pituitary, Alopecia, Ventricular septal defect, Brittle hair, Wide in...	ORPHA:75389
Pallister-Hall Syndrome	Atrioventricular canal defect, Precocious puberty, Gonadotropin deficiency, Thyroid hypoplasia, P...	ORPHA:672
Maxillonasal Dysplasia, Binder Type	Vertebral clefting, Patchy distortion of vertebrae, Short nose, Short columella, Depressed nasal ...	OMIM:155050
Alg3-Cdg	Inverted nipples, Neural tube defect, Coarctation of the descending aortic arch, Abnormality of t...	ORPHA:79321
Mandibuloacral Dysplasia With Type A Lipodystrophy	Absent eyelashes, Alopecia, Abnormal eyebrow morphology, Breast aplasia	ORPHA:90153
Smith-Lemli-Opitz Syndrome	Patent ductus arteriosus, Atrioventricular canal defect, Ventricular septal defect, Kyphosis, Wid...	ORPHA:818
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Kyphosis, Synophrys, Short nose, Scoliosis, Low posterior hairline, Thick eyebrow, Thick hair	ORPHA:2429
Weiss-Kruszka Syndrome	Ventricular septal defect, Bicuspid aortic valve, Left ventricular hypertrophy, Short nose, Antev...	OMIM:618619
1Q21.1 Microdeletion Syndrome	Patent ductus arteriosus, Wide nasal bridge, Abnormal cardiac septum morphology, Interrupted aort...	ORPHA:250989
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Patent ductus arteriosus, Ventricular septal defect, Abnormal autonomic nervous system physiology...	OMIM:613870
Heterotaxy, Visceral, 5, Autosomal	Patent ductus arteriosus, Double outlet right ventricle, Atrioventricular canal defect, Ascending...	OMIM:270100
Dilated Cardiomyopathy With Ataxia	Hypothyroidism, Optic atrophy, Bilateral cryptorchidism, Dilated cardiomyopathy, Muscular ventric...	ORPHA:66634
Vissers-Bodmer Syndrome	Holoprosencephaly	OMIM:619033
Holoprosencephaly-Caudal Dysgenesis Syndrome	Holoprosencephaly, Cyclopia, Abnormal cerebral vascular morphology	ORPHA:2165
20Q13.33 Microdeletion Syndrome	Sacral dimple, Dilation of Virchow-Robin spaces, Aplasia/Hypoplasia of the nipples, Atrial septal...	ORPHA:261311
Muscle-Eye-Brain Disease	Meningocele, Holoprosencephaly, Hydrocephalus, Optic atrophy	ORPHA:588
Hadziselimovic Syndrome	Ventricular hypertrophy, Ventricular septal defect, Atrial septal defect, Anteverted nares, Pulmo...	OMIM:612946
Giant Cell Arteritis	Abdominal aortic aneurysm, Diabetes insipidus, Alopecia, Optic atrophy, Recurrent pharyngitis, Ep...	ORPHA:397
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Onion bulb formation, Wide nasal bridge, Decreased motor nerve conduction velocity, Short nose, F...	OMIM:218000
Acromicric Dysplasia	Abnormal eyebrow morphology, Long eyelashes, Short nose, Decreased nerve conduction velocity, Ovo...	ORPHA:969
Congenital Disorder Of Glycosylation, Type Il	Inverted nipples, Abnormal cardiac septum morphology, Kyphosis, Pericardial effusion, Wide interm...	OMIM:608776
Aortic Valve Disease 1	Double outlet right ventricle, Mitral atresia, Ventricular septal defect, Mitral stenosis, Bicusp...	OMIM:109730
Venous Malformations, Multiple Cutaneous And Mucosal	Venous malformation	OMIM:600195
Rhiny	Inguinal hernia, Anteverted nares, Short nose	OMIM:180360
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Wide nose, Vascular dilatation, Severe platyspondyly, Short nose, Depressed nasal bridge, Short n...	OMIM:613320
Mungan Syndrome	Abnormality of the autonomic nervous system, Pulmonic stenosis, Perimembranous ventricular septal...	OMIM:611376
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Patent ductus arteriosus, Sacral dimple, Prominent nose, Wide nasal bridge, Abnormality of thyroi...	OMIM:300968
1Q41Q42 Microdeletion Syndrome	Underdeveloped nasal alae, Depressed nasal bridge, Holoprosencephaly, Broad nasal tip, Hypergonad...	ORPHA:250999
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Wide intermamillary distance, Optic nerve hypoplasia, Short neck, Peripheral pulmonary artery ste...	OMIM:617506
Hypoplastic Left Heart Syndrome	Patent ductus arteriosus, Mitral atresia, Mitral stenosis, Maternal diabetes, Atrial septal defec...	ORPHA:2248
Arachnoid Cyst	Back pain, Encephalocele, Cranial nerve compression, Hydrocephalus, Abnormality of the endocrine ...	ORPHA:2356
Frank-Ter Haar Syndrome	Double outlet right ventricle, Patent foramen ovale, Wide anterior fontanel, Kyphosis, Ventricula...	OMIM:249420
Developmental Delay With Or Without Dysmorphic Facies And Autism	Patent ductus arteriosus, Patent foramen ovale, Omphalocele, Ventricular septal defect, Wide nasa...	OMIM:618454
Vitamin K Antagonist Embryofetopathy	Myelomeningocele, Optic atrophy, Hydrocephalus, Short nose, Depressed nasal bridge, Short neck, A...	ORPHA:1914
Chromosome 6Q11-Q14 Deletion Syndrome	Sacral dimple, Bilateral cryptorchidism, Short nose, Inguinal hernia, Short neck, Broad nasal tip...	OMIM:613544
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Atrioventricular canal defect, Asplenia, Butterfly vertebrae, Pulmonary artery dilatation, Pulmon...	OMIM:265380
Maxillonasal Dysplasia	Vertebral clefting, Abnormal nostril morphology, Patchy distortion of vertebrae, Depressed nasal ...	ORPHA:1248
Biliary, Renal, Neurologic, And Skeletal Syndrome	Atrioventricular canal defect, Unbalanced atrioventricular canal defect, Coloboma, Lateral ventri...	OMIM:619534
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Hypopigmentation of hair, Depressed nasal ridge, Anteverted nares, Short nose	ORPHA:1355
Hartsfield Syndrome	Depressed nasal bridge, Encephalocele, Lobar holoprosencephaly	ORPHA:2117
Congenital Heart Defects, Multiple Types, 2	Subvalvular aortic stenosis, Ventricular septal defect, Bicuspid aortic valve, Aortic aneurysm, A...	OMIM:614980
Heart And Brain Malformation Syndrome	Wide anterior fontanel, Wide nasal bridge, Ventricular septal defect, Interrupted aortic arch, De...	OMIM:616920
Estrogen Resistance Syndrome	Hyperinsulinemia, Abnormality of the pubic hair, Enlarged polycystic ovaries, Absence of secondar...	ORPHA:785
Congenital Heart Defects And Skeletal Malformations Syndrome	Aortic root aneurysm, Medial flaring of the eyebrow, Ventricular septal defect, Kyphosis, Atrial ...	OMIM:617602
Kleefstra Syndrome Due To 9Q34 Microdeletion	Conotruncal defect, Abnormal cardiac septum morphology, Abnormal testis morphology, Synophrys, Sh...	ORPHA:96147
Limb-Mammary Syndrome	Alopecia, Sparse eyebrow, Aplasia of the ovary, Absent nipple, Breast aplasia, Hypoplastic nipple...	ORPHA:69085
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Patent ductus arteriosus, Ventricular septal defect, Wide nasal bridge, Kyphosis, Frontal upsweep...	OMIM:617061
Mosaic Variegated Aneuploidy Syndrome	Wide nose, Subvalvular aortic stenosis, Abnormal aortic morphology, Hypothyroidism, Depressed nas...	ORPHA:1052
Intellectual Developmental Disorder, X-Linked 91	Low posterior hairline, Short nose	OMIM:300577
Isolated Right Ventricular Hypoplasia	Patent foramen ovale, Atrial septal defect, Muscular ventricular septal defect, Cardiomegaly, Rig...	ORPHA:439
Teebi Hypertelorism Syndrome 1	Aortic root aneurysm, Ventricular septal defect, Wide nasal bridge, Widow's peak, Hydrocele testi...	OMIM:145420
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Ventricular septal defect, Anteverted nares, Short nose	OMIM:618506
Mitochondrial Myopathy And Sideroblastic Anemia	Kyphosis, Short nose, Delayed puberty, Scoliosis, Distichiasis	ORPHA:2598
Feingold Syndrome Type 1	Patent ductus arteriosus, Interrupted aortic arch, Abnormal heart morphology, Multiple muscular v...	ORPHA:391641
Microphthalmia, Syndromic 2	Hypothyroidism, Adrenal insufficiency, Iris coloboma, Thick eyebrow, Double outlet right ventricl...	OMIM:300166
Codas Syndrome	Ventricular septal defect, Midline defect of the nose, Short nose, Depressed nasal bridge, Scolio...	ORPHA:1458
Wrinkly Skin Syndrome	Wide anterior fontanel, Wide nasal bridge, Kyphosis, Atrial septal dilatation, Short nail, Inguin...	OMIM:278250
Noonan Syndrome 12	Tetralogy of Fallot, Spinal canal stenosis, Ventricular septal defect, Decreased response to grow...	OMIM:618624
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Patent foramen ovale, Horizontal eyebrow, Ventricular septal defect, Wide nasal bridge, Frontal u...	ORPHA:369891
Distal Tetrasomy 15Q	Patent ductus arteriosus, Kyphosis, Hydrocephalus, Hydrocele testis, Atrial septal defect, Hypopl...	ORPHA:314588
Chondrodysplasia, Blomstrand Type	Preductal coarctation of the aorta, Depressed nasal bridge, Stillbirth	OMIM:215045
You-Hoover-Fong Syndrome	Double aortic arch, Kyphoscoliosis, Vascular ring, Coarctation of aorta	OMIM:616954
Lethal Osteosclerotic Bone Dysplasia	Short neck, Depressed nasal ridge, Anteverted nares, Short nose	ORPHA:1832
Smith-Lemli-Opitz Syndrome	Patent ductus arteriosus, Sacral dimple, Precocious puberty, Ventricular septal defect, Wide nasa...	OMIM:270400
Diabetes Insipidus, Neurohypophyseal	Wide nose, Central diabetes insipidus, Decreased circulating osteocalcin level, Short nose	OMIM:125700
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis	OMIM:617992
Microgastria-Limb Reduction Defect Syndrome	Truncus arteriosus, Arrhinencephaly, Atrial septal defect, Hiatus hernia, Abnormality of the sple...	ORPHA:2538
Down Syndrome	Patent ductus arteriosus, Double outlet right ventricle, Atrioventricular canal defect, Patent fo...	OMIM:190685
Meckel Syndrome 14	Holoprosencephaly, Short neck, Anteverted nares, Single ventricle, Occipital encephalocele	OMIM:619879
Kleefstra Syndrome	Ventricular septal defect, Bicuspid aortic valve, Synophrys, Supernumerary nipple, Short nose, Co...	ORPHA:261494
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Patent foramen ovale, Coloboma, Depressed nasal bridge, Short neck, Cryptorchidism, Bulbous nose,...	OMIM:616789
Odontochondrodysplasia	Patent ductus arteriosus, Short nose, Depressed nasal bridge, Scoliosis, Platyspondyly	ORPHA:166272
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Optic atrophy, Decreased motor nerve conduction velocity, Short nose, Scoliosis, Cryptorchidism, ...	OMIM:615419
Lowry-Maclean Syndrome	Atrioventricular canal defect, Convex nasal ridge, Short nasal bridge, Bilateral cryptorchidism, ...	ORPHA:2409
Harel-Yoon Syndrome	Optic atrophy, Short nose, Hypertrophic cardiomyopathy, Peripheral axonal neuropathy, Scoliosis	OMIM:617183
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Holoprosencephaly, Hydrocephalus, Aqueductal stenosis, Agenesis of corpus callosum	ORPHA:2182
Acrocephalopolydactyly	Hepatosplenomegaly, Short neck, Depressed nasal ridge, Short nose	ORPHA:221054
Ring Chromosome 8 Syndrome	Low posterior hairline, Anteverted nares, Short nose	ORPHA:1450
Isolated Exencephaly	Hypoplasia of the frontal bone, Anterior pituitary hypoplasia, Maternal diabetes, Depressed nasal...	ORPHA:563612
Dyrk1A-Related Intellectual Disability Syndrome	Patent ductus arteriosus, Anterior pituitary hypoplasia, Abnormality of the cervical spine, Narro...	ORPHA:464306
Parkes Weber Syndrome	Back pain, Vascular dilatation, Arteriovenous malformation, Cerebral arteriovenous malformation, ...	ORPHA:90307
Baker-Gordon Syndrome	Prominent nasal tip, Scoliosis, Short nose	OMIM:618218
De Barsy Syndrome	Patent ductus arteriosus, Ventricular septal defect, Prominent nasolabial fold, Inguinal hernia, ...	ORPHA:2962
Aymé-Gripp Syndrome	Patent ductus arteriosus, Sparse scalp hair, Pericardial effusion, Hydrocephalus, Long eyelashes,...	ORPHA:1272
Intellectual Developmental Disorder, Autosomal Dominant 66	Aortic root aneurysm, Secundum atrial septal defect, Scoliosis, Cerebral cavernous malformation, ...	OMIM:619910
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Wide nasal bridge, Optic atrophy, Atrial septal defect, Short nose, Broad columella, Hypertrophic...	OMIM:619383
Intellectual Disability-Strabismus Syndrome	Patent ductus arteriosus, Hypothyroidism, Prominent nose, Narrow nasal ridge, Decreased response ...	ORPHA:363528
Viss Syndrome	Aortic tortuosity, Hypothyroidism, Ascending tubular aorta aneurysm, Butterfly vertebrae, Carotid...	OMIM:619472
Stickler Syndrome Type 1	Short nose, Mitral valve prolapse, Abnormality of vertebral epiphysis morphology, Platyspondyly	ORPHA:90653
Proboscis Lateralis	Patent ductus arteriosus, Single naris, Abnormal eyebrow morphology, Abnormal location of the eye...	ORPHA:141099
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Sparse lateral eyebrow, Ventricular septal defect, Pineal cyst, Prominent nasal tip, Depressed na...	ORPHA:513456
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Ventricular septal defect, Synophrys, Semilobar holoprosencephaly, Atrial septal defect, Short no...	OMIM:301044
Carpenter Syndrome 1	Patent ductus arteriosus, Sacral dimple, Precocious puberty, Ventricular septal defect, Optic atr...	OMIM:201000
Holoprosencephaly 3	Single naris, Proboscis, Central diabetes insipidus, Short columella, Depressed nasal bridge, Hol...	OMIM:142945
Chops Syndrome	Patent ductus arteriosus, Patent foramen ovale, Splenomegaly, Curly hair, Ventricular septal defe...	OMIM:616368
Aorto-Ventricular Tunnel	Aortic root aneurysm, Ventricular hypertrophy, Abnormal aortic morphology, Aorto-ventricular tunn...	ORPHA:3400
17P13.3 Microduplication Syndrome	Wide nose, Inguinal hernia, Short neck, Short nose	ORPHA:217385
Microcephaly-Capillary Malformation Syndrome	Wide nose, Patent foramen ovale, Ventricular septal defect, Optic atrophy, Atrial septal defect, ...	OMIM:614261
Ear-Patella-Short Stature Syndrome	Breast aplasia, Cryptorchidism	ORPHA:2554
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Optic atrophy, Short nose, Optic nerve hypoplasia, Hypertrophic cardiomyopathy, Delayed puberty, ...	ORPHA:496790
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Sacral dimple, Atrioventricular canal defect, Hydrocephalus, Abnormal vertebral morphology, Dextr...	OMIM:314390
Kapur-Toriello Syndrome	Patent ductus arteriosus, Ventricular septal defect, Iris coloboma, Short neck, Dysplastic corpus...	ORPHA:2328
Non-Acquired Panhypopituitarism	Abnormality of secondary sexual hair, Anterior pituitary hypoplasia, Decreased response to growth...	ORPHA:90695
Robinow Syndrome, Autosomal Dominant 3	Sacral dimple, Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Kyphosi...	OMIM:616894
Donnai-Barrow Syndrome	Wide anterior fontanel, Ventricular septal defect, Agenesis of corpus callosum, Short nose, Depre...	OMIM:222448
Adenylosuccinate Lyase Deficiency	Anteverted nares, Short nose	ORPHA:46
Meckel Syndrome, Type 8	Encephalocele, Depressed nasal ridge, Pericardial effusion, Short nose, Short neck, Occipital enc...	OMIM:613885
Coffin-Siris Syndrome	Hirsutism, Thick eyebrow, Papillary thyroid carcinoma, Thick nasal alae, Ventricular septal defec...	ORPHA:1465
Distal Trisomy 18Q	Progressive intervertebral space narrowing, Short nose, Iris coloboma, Short neck, Abnormal hair ...	ORPHA:1716
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Patent ductus arteriosus, Wide anterior fontanel, Abnormal cardiac septum morphology, Short nose,...	OMIM:217980
Craniofrontonasal Syndrome	Wide nasal bridge, Agenesis of corpus callosum, Unilateral breast hypoplasia, Widow's peak, Short...	OMIM:304110
Thakker-Donnai Syndrome	Ventricular septal defect, Communicating hydrocephalus, Bulbous nose, Short neck, Anteverted nare...	ORPHA:1780
Peho-Like Syndrome	Optic atrophy, Short nose	OMIM:617507
Capillary Malformation-Arteriovenous Malformation	Arteriovenous malformation, Cerebral arteriovenous malformation, Hydrocephalus, Epistaxis, Vein o...	ORPHA:137667
Cardiac Diverticulum	Bicuspid pulmonary valve, Pulmonary artery stenosis, Endocarditis, Patent foramen ovale, Ventricu...	ORPHA:1686
Mosaic Variegated Aneuploidy Syndrome 2	Subvalvular aortic stenosis, Hypothyroidism, Decreased response to growth hormone stimulation tes...	OMIM:614114
Orofaciodigital Syndrome Xiv	Patent ductus arteriosus, Ventricular septal defect, Aplasia of the epiglottis, Atrial septal def...	OMIM:615948
Craniodigital-Intellectual Disability Syndrome	Long eyelashes, Short nose, Spina bifida occulta, Narrow nasal bridge, Abnormal hair pattern, Thi...	ORPHA:1514
Thymic Neuroendocrine Tumor	Increased circulating prolactin concentration, Neoplasm of the thymus, Neoplasm of the endocrine ...	ORPHA:97289
Periventricular Nodular Heterotopia 7	Ventricular septal defect, Short nose, Anteverted nares, Cryptorchidism, Optic disc pallor	OMIM:617201
Jacobsen Syndrome	Aplasia/Hypoplasia of the eyebrow, Ventricular septal defect, Wide nasal bridge, Spina bifida, An...	ORPHA:2308
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Patent foramen ovale, Wide anterior fontanel, Ventricular septal defect, Lateral ventricle dilata...	ORPHA:457279
Endocrine-Cerebroosteodysplasia	Wide nasal bridge, Wide intermamillary distance, Hydrocephalus, Depressed nasal tip, Holoprosence...	OMIM:612651
Pituicytoma	Increased circulating prolactin concentration, Decreased response to growth hormone stimulation t...	ORPHA:251623
Ring Chromosome 12 Syndrome	Hypothyroidism, Dystrophic toenail, Secundum atrial septal defect, Hirsutism, Cryptorchidism, Bre...	ORPHA:1439
Trichothiodystrophy 4, Nonphotosensitive	Trichorrhexis nodosa, Ventricular septal defect, Optic atrophy, Brittle hair, Short nose, Woolly ...	OMIM:234050
Miller-Dieker Syndrome	Sacral dimple, Omphalocele, Anteverted nares, Short nose	ORPHA:531
Waardenburg Syndrome Type 1	Underdeveloped nasal alae, Meningocele, Wide nasal bridge, Premature graying of hair, Spina bifid...	ORPHA:894
Fatty Acyl-Coa Reductase 1 Deficiency	Depressed nasal bridge, Highly arched eyebrow, Short nose	ORPHA:438178
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Underdeveloped nasal alae, Pancreatic hypoplasia, Choanal stenosis, Biliary hyperplasia, Wide nas...	ORPHA:83617
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Broad nasal tip, Short nose	OMIM:613670
Scalp-Ear-Nipple Syndrome	Type I diabetes mellitus, Aplasia/Hypoplasia of the nipples, Sparse hair, Breast aplasia	ORPHA:2036
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Hydrocephalus, Optic nerve hypoplasia, Inguinal hernia, Hypoplastic aortic arch, Scoliosis, Abnor...	ORPHA:457284
Becker Nevus Syndrome	Hemivertebrae, Unilateral breast hypoplasia, Scoliosis	OMIM:604919
Chromosome 14Q11-Q22 Deletion Syndrome	Patent ductus arteriosus, Patent foramen ovale, Anterior pituitary hypoplasia, Elevated circulati...	OMIM:613457
Autosomal Recessive Robinow Syndrome	Sacral dimple, Alopecia, Abnormal aortic morphology, Ventricular septal defect, Kyphosis, Wide na...	ORPHA:1507
Sheehan Syndrome	Abnormal size of pituitary gland, Gonadotropin deficiency, Decreased serum estradiol, Sparse axil...	ORPHA:91355
Genitourinary And/Or Brain Malformation Syndrome	Aplasia of the nasal bone, Short nose, Kyphoscoliosis, Holoprosencephaly, Cryptorchidism, Omphalo...	OMIM:618820
Timothy Syndrome	Patent ductus arteriosus, Patent foramen ovale, Hypothyroidism, Ventricular septal defect, Depres...	OMIM:601005
Craniofacial Microsomia	Patent ductus arteriosus, Vertebral hypoplasia, Ventricular septal defect, Block vertebrae, Branc...	OMIM:164210
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Patent ductus arteriosus, Patent foramen ovale, Pancreatic hypoplasia, Neonatal insulin-dependent...	ORPHA:2255
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Hypothyroidism, Frontal upsweep of hair, Prominent nasolabial fold, Short nose, Diabetes mellitus...	ORPHA:391372
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Wide nasal bridge, Synophrys, Wide intermamillary distance, Recurrent sinusitis, Supernumerary ni...	OMIM:213980
Perlman Syndrome	Hyperinsulinemia, Wide nasal bridge, Short nose, Inguinal hernia, Anteverted nares, Cryptorchidis...	ORPHA:2849
Rhizomelic Chondrodysplasia Punctata, Type 2	Irregular vertebral endplates, Wide nasal bridge, Optic nerve hypoplasia, Inguinal hernia, Depres...	OMIM:222765
Camptodactyly Syndrome, Guadalajara Type 1	Sacral dimple, Spina bifida, Synophrys, Short nose, Depressed nasal bridge, Anteverted nares, Hig...	ORPHA:1327
Achondrogenesis	Short nose, Inguinal hernia, Short neck, Anteverted nares, Umbilical hernia	ORPHA:932
Holoprosencephaly 9	Single naris, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation tes...	OMIM:610829
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Spinal dysraphism, Wide nasal bridge, Wide intermamillary distance, Frontal hirsutism, Abnormal a...	ORPHA:96334
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Aortic root aneurysm, Anterior atlanto-occipital dislocation, Ascending tubular aorta aneurysm, P...	ORPHA:536467
Marshall-Smith Syndrome	Synophrys, Atlantoaxial dislocation, Optic nerve hypoplasia, Thick eyebrow, Sparse hair, Choanal ...	OMIM:602535
C Syndrome	Patent ductus arteriosus, Ventricular septal defect, Wide nasal bridge, Short nose, Scoliosis, An...	OMIM:211750
Isolated Follicle Stimulating Hormone Deficiency	Female hypogonadism, Gonadotropin deficiency, Decreased serum estradiol, Decreased testicular siz...	ORPHA:52901
Trigonocephaly 1	Wide nasal bridge, Synophrys, Short nose, Lumbar hemivertebrae, Omphalocele	OMIM:190440
Cardiac-Urogenital Syndrome	Patent ductus arteriosus, Cor triatrium sinister, Wide nasal bridge, Ventricular septal defect, P...	OMIM:618280
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Wide anterior fontanel, Thoracic kyphosis, Anisospondyly, Short nose, Depressed nasal bridge, Sho...	ORPHA:163649
Trisomy 20P	Wide intermamillary distance, Abnormal autonomic nervous system physiology, Short neck, Coarse ha...	ORPHA:261318
Disorder Of Sex Development-Intellectual Disability Syndrome	Hypogonadism, Kyphosis, Synophrys, Wide intermamillary distance, Short nose, Spina bifida occulta...	ORPHA:2983
Holoprosencephaly-Craniosynostosis Syndrome	Holoprosencephaly, Hypoplastic vertebral bodies	ORPHA:2163
Wolcott-Rallison Syndrome	Central hypothyroidism, Double outlet right ventricle, Hypothyroidism, Neonatal insulin-dependent...	ORPHA:1667
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Primary gonadal insufficiency, Alopecia, Sparse eyebrow, Abnormal eyebrow morphology, Decreased s...	ORPHA:2232
Ring Chromosome 7 Syndrome	Narrow naris, Wide nasal bridge, Hypogonadism, Hydrocele testis, Short nose, Holoprosencephaly, S...	ORPHA:1449
Pentalogy Of Cantrell	Abnormal pericardium morphology, Absent gallbladder, Encephalocele, Ventricular septal defect, An...	ORPHA:1335
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal	Ventricular hypertrophy, Patent foramen ovale, Short nose, Inguinal hernia, Depressed nasal bridg...	OMIM:602613
Microcephaly 26, Primary, Autosomal Dominant	Patent foramen ovale, Wide nasal bridge, Prominent eyelashes, Short nose, Scoliosis, Dysplastic c...	OMIM:619179
Distal Monosomy 15Q	Patent ductus arteriosus, Mitral atresia, Double outlet right ventricle with doubly committed ven...	ORPHA:1596
Absent Eyebrows And Eyelashes With Mental Retardation	Convex nasal ridge, Encephalocele, Absent eyelashes, Short nose, Absent eyebrow	OMIM:200130
Robinow Syndrome	High anterior hairline, Pulmonary valve atresia, Ventricular septal defect, Pulmonic stenosis, At...	ORPHA:97360
Spondylodysplastic Ehlers-Danlos Syndrome	Ascending tubular aorta aneurysm, Optic nerve hypoplasia, Congenital kyphoscoliosis, Iris colobom...	ORPHA:536471
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Vascular dilatation, Thoracic scoliosis, Mitral valve prolapse, Aortic aneurysm, Arterial dissect...	ORPHA:1900
Arterial Tortuosity Syndrome	Aortic root aneurysm, Vascular dilatation, Abnormal carotid artery morphology, Aortic aneurysm, D...	ORPHA:3342
Developmental And Epileptic Encephalopathy 75	Optic atrophy, Wide nasal bridge, Short nose, Anteverted nares, Optic disc pallor, Cardiomyopathy	OMIM:618437
Ververi-Brady Syndrome	Wide nose, Prominent nose, Broad nasal tip, Scoliosis, Bulbous nose, Transposition of the great a...	OMIM:617982
Congenital Disorder Of Glycosylation, Type Iu	Scoliosis, Optic atrophy, Short nose	OMIM:615042
Pancreatic Agenesis-Holoprosencephaly Syndrome	Absent gallbladder, Neonatal insulin-dependent diabetes mellitus, Abnormal external nose morpholo...	ORPHA:556955
Iniencephaly	Hyperlordosis, Spinal dysraphism, Encephalocele, Myelomeningocele, Spina bifida, Anencephaly, Hyd...	ORPHA:63259
Nabais Sa-De Vries Syndrome, Type 1	Sacral dimple, Synophrys, Long eyelashes, Short nose, Optic nerve hypoplasia, Depressed nasal bri...	OMIM:618828
Dermotrichic Syndrome	Aganglionic megacolon, Abnormal vertebral morphology, Short nose, Depressed nasal bridge, Nail dy...	ORPHA:99688
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Wide nose, Hypothyroidism, Synophrys, Fine hair, Short nose, Diabetes mellitus, Kyphoscoliosis, S...	ORPHA:391408
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Patent ductus arteriosus, Convex nasal ridge, Abnormality of the cervical spine, Coloboma, Vascul...	ORPHA:353281
Pallister-Hall-Like Syndrome	Anterior hypopituitarism, Hydrocephalus, Short nose, Depressed nasal bridge, Occipital encephaloc...	OMIM:241800
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Ventricular septal defect, Wide nasal bridge, Short nose, Hypertrophic cardiomyopathy, Short neck...	OMIM:616897
Loeys-Dietz Syndrome 6	Abdominal aortic aneurysm, Ventricular hypertrophy, Intervertebral disc degeneration, Vertebral a...	OMIM:619656
Hydrocephaly-Low Insertion Umbilicus Syndrome	Patent ductus arteriosus, Wide nose, Communicating hydrocephalus, Anomalous pulmonary venous retu...	ORPHA:2184
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Short nose	OMIM:245570
Kaufman Oculocerebrofacial Syndrome	Sparse eyebrow, Ventricular septal defect, Atrial septal defect, Short nose, Coarctation of aorta...	OMIM:244450
Aarskog-Scott Syndrome	Wide nasal bridge, Hypoplasia of the odontoid process, Bilateral cryptorchidism, Widow's peak, De...	OMIM:305400
Potocki-Shaffer Syndrome	Underdeveloped nasal alae, Sparse lateral eyebrow, Wide nasal bridge, Short nose	OMIM:601224
Methimazole Embryofetopathy	Hypothyroidism, Abnormal aortic morphology, Ventricular septal defect, Coarctation of aorta, Abno...	ORPHA:1923
Holoprosencephaly, Semilobar, With Craniosynostosis	Semilobar holoprosencephaly, Hypoplastic vertebral bodies	OMIM:601370
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Absence of secondary sex characteristics, Anterior hypopituitarism, Hypothalamic gonadotropin-rel...	ORPHA:2235
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Horizontal eyebrow, Wide nasal bridge, Short nose, Short neck, Scoliosis, Abnormal heart morpholo...	OMIM:618571
Severe X-Linked Intellectual Disability, Gustavson Type	Ventricular septal defect, Optic atrophy, Lateral ventricle dilatation, Short nose, Recurrent upp...	ORPHA:3078
Congenital Alveolar Capillary Dysplasia	Patent ductus arteriosus, Atrioventricular canal defect, Pulmonary valve atresia, Absent gallblad...	ORPHA:210122
Chung-Jansen Syndrome	Synophrys, Short nose, Anteverted nares, Cryptorchidism, Thick eyebrow	OMIM:617991
Distal Monosomy 10Q	Patent ductus arteriosus, Prominent nose, Wide nasal bridge, Lateral ventricle dilatation, Widow'...	ORPHA:96148
Acrodysostosis 2 With Or Without Hormone Resistance	Fair hair, Spinal canal stenosis, Short nose, Diabetes mellitus, Depressed nasal bridge, Antevert...	OMIM:614613
Congenital Heart Defects, Multiple Types, 3	Abnormal heart morphology, Tetralogy of Fallot, Persistent left superior vena cava, Atrial septal...	OMIM:614954
Trisomy 8P	Sacral dimple, Abnormal atrioventricular connection, Aplasia/Hypoplasia of the gallbladder, Dyspl...	ORPHA:264450
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Medial flaring of the eyebrow, Optic atrophy, Hydrocephalus, Long eyelashes, Short nose, Depresse...	OMIM:619833
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Patent ductus arteriosus, Underdeveloped nasal alae, Overhanging nasal tip, Absent gallbladder, V...	ORPHA:163979
Fibrochondrogenesis 1	Patent foramen ovale, Wide anterior fontanel, Short nose, Depressed nasal bridge, Short neck, Pos...	OMIM:228520
Meacham Syndrome	Patent ductus arteriosus, Conotruncal defect, Ventricular septal defect, Atrial septal defect, Co...	ORPHA:3097
Ruvalcaba Syndrome	Convex nasal ridge, Kyphosis, Short nose, Inguinal hernia, Delayed puberty, Scoliosis, Cryptorchi...	ORPHA:3121
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Precocious puberty, Atrial septal defect, Anteverted nares, Short nose	OMIM:619356
Van Esch-O'Driscoll Syndrome	Sacral dimple, Pulmonary valve atresia, Ventricular septal defect, Atrial septal defect, Short no...	OMIM:301030
Femoral-Facial Syndrome	Vertebral segmentation defect, Maternal diabetes, Short nose, Abnormal sacrum morphology, Inguina...	ORPHA:1988
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Patent ductus arteriosus, Inverted nipples, Restrictive cardiomyopathy, Short nose, Depressed nas...	OMIM:615398
Giant Axonal Neuropathy	Woolly hair, Pili canaliculi, Scoliosis, Diffuse axonal swelling, Abnormality of the pituitary gl...	ORPHA:643
16P12.1P12.3 Triplication Syndrome	Decreased response to growth hormone stimulation test, Bilateral cryptorchidism, Atrial septal de...	ORPHA:485405
Fg Syndrome Type 1	Sacral dimple, Prominent nose, Frontal upsweep of hair, Mitral valve prolapse, Hydrocephalus, Atr...	ORPHA:93932
Phosphoribosylaminoimidazole Carboxylase Deficiency	Choanal stenosis, Bilateral cryptorchidism, Short nose, Bilateral choanal atresia, Depressed nasa...	OMIM:619859
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Patent ductus arteriosus, Hypothyroidism, Wide nasal bridge, Atrial septal defect, Short nose, Ky...	OMIM:618005
Cardiofaciocutaneous Syndrome	Optic atrophy, Hypertrophic cardiomyopathy, Short neck, Abnormal eyelash morphology, Sparse hair,...	ORPHA:1340
Feingold Syndrome 1	Patent ductus arteriosus, Asplenia, Ventricular septal defect, Wide nasal bridge, Interrupted aor...	OMIM:164280
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Inguinal hernia, Patent foramen ovale, Mitral valve prolapse, Short nose	OMIM:615539
Normosmic Congenital Hypogonadotropic Hypogonadism	Female hypogonadism, Sparse body hair, Absence of secondary sex characteristics, Decreased testic...	ORPHA:432
Rhizomelic Dysplasia, Patterson-Lowry Type	Wide nose, Hyperlordosis, Depressed nasal ridge, Short nose, Abnormal form of the vertebral bodies	ORPHA:2831
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Hypothyroidism, Anterior pituitary hypoplasia, Decreased circulating free T4 concentration, Reduc...	OMIM:613038
15Q11.2 Microdeletion Syndrome	Ventricular septal defect, Atrial septal defect, Coarctation of aorta, Abnormal heart morphology,...	ORPHA:261183
Edinburgh Malformation Syndrome	Synophrys, Hydrocephalus, Short nose, Hirsutism, Anteverted nares, Low posterior hairline, Genera...	ORPHA:1895
Chondrodysplasia Punctata 1, X-Linked Recessive	Hypogonadism, Short nose, Depressed nasal bridge, Anosmia, Abnormality of the vertebral column, S...	OMIM:302950
9q subtelomeric deletion syndrome	Synophrys, Abnormal heart morphology, Anteverted nares, Short nose	DECIPHER:52
Fetal Valproate Spectrum Disorder	Omphalocele, Depressed nasal ridge, Short nose	ORPHA:1906
Schimke Immunoosseous Dysplasia	Elevated circulating thyroid-stimulating hormone concentration, Wide nasal bridge, Transient isch...	OMIM:242900
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Convex nasal ridge, Coloboma, Abnormal subclavian artery morphology, Patent foramen ovale, Ventri...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Convex nasal ridge, Coloboma, Abnormal subclavian artery morphology, Patent foramen ovale, Ventri...	ORPHA:353277
Achondrogenesis Type 1B	Umbilical hernia, Short neck, Anteverted nares, Short nose	ORPHA:93298
Au-Kline Syndrome	Aortic root aneurysm, Thoracolumbar scoliosis, Sacral dimple, Underdeveloped nasal alae, Inverted...	OMIM:616580
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Long eyelashes, Short nose, Absent axillary hair, Depressed nasal bridge, Scoliosis, Cryptorchidi...	OMIM:601353
Familial Multiple Nevi Flammei	Arteriovenous malformation, Intracranial hemorrhage, Venous insufficiency, Scoliosis, Abnormal cr...	ORPHA:624
Hartsfield Syndrome	Wide nose, Diabetes insipidus, Hypoplasia of the frontal bone, Gonadotropin deficiency, Semilobar...	OMIM:615465
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Hepatic arteriovenous malformation, Cerebral arteriovenous malformation, Pulmonary arteriovenous ...	OMIM:175050
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome	Optic atrophy, Short nose	ORPHA:1495
Glutamine Deficiency, Congenital	Wide nasal bridge, Lateral ventricle dilatation, Short nose, Depressed nasal bridge, Anteverted n...	OMIM:610015
Congenital Total Pulmonary Venous Return Anomaly	Patent ductus arteriosus, Double outlet right ventricle, Mitral atresia, Cardiac total anomalous ...	ORPHA:99125
Phace Association	Patent ductus arteriosus, Anomalous branches of internal carotid artery, Vascular dilatation, Ven...	OMIM:606519
Achondrogenesis Type 1A	Umbilical hernia, Short neck, Anteverted nares, Short nose	ORPHA:93299
Von Willebrand Disease	Abnormal mitral valve morphology, Venous insufficiency	ORPHA:903
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Wide nasal bridge, Aganglionic megacolon, Atrial septal defect, Short nose, Broad nasal tip, Peri...	OMIM:614749
Cardiofaciocutaneous Syndrome 1	Optic nerve dysplasia, Splenomegaly, Curly hair, Absent eyelashes, Hydrocephalus, Atrial septal d...	OMIM:115150
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Patent ductus arteriosus, Patent foramen ovale, Thick hair, Optic atrophy, Thoracic kyphosis, Hyd...	ORPHA:505248
Fontaine Progeroid Syndrome	Convex nasal ridge, Synophrys, Coarse hair, Aortic aneurysm, Left ventricular hypertrophy, Absent...	OMIM:612289
Townes-Brocks Syndrome 1	Hypothyroidism, Ventricular septal defect, Hydrocephalus, Atrial septal defect, Holoprosencephaly...	OMIM:107480
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Patent ductus arteriosus, Ventricular septal defect, Distichiasis, Peripheral arterial stenosis, ...	OMIM:126320
Clark-Baraitser Syndrome	Low hanging columella, Depressed nasal bridge, Anteverted nares, Short nose	OMIM:617752
Bainbridge-Ropers Syndrome	Precocious puberty, Wide nasal bridge, Lateral ventricle dilatation, Synophrys, Supernumerary nip...	OMIM:615485
Meckel Syndrome	Pancreatic cysts, Asplenia, Encephalocele, Depressed nasal ridge, Optic atrophy, Anencephaly, Hyd...	ORPHA:564
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Wide nasal bridge, Optic disc pallor, Lobar holoprosencephaly, Optic nerve hypoplasia, Cryptorchi...	ORPHA:468631
Intellectual Developmental Disorder, X-Linked 30	Hydrocephalus, Prominent nasal bridge, Anteverted nares, Short nose	OMIM:300558
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Absent gallbladder, Diabetes insipidus, Semilobar holoprosencephaly, Type I diabetes mellitus, Lo...	OMIM:618500
Frontofacionasal Dysplasia	Aplasia/Hypoplasia of the eyebrow, Encephalocele, Depressed nasal ridge, Short nose, Dimple on na...	ORPHA:1791
Alg9-Cdg	Underdeveloped nasal alae, Inverted nipples, Convex nasal ridge, Wide anterior fontanel, Ventricu...	ORPHA:79328
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Patent ductus arteriosus, Thoracolumbar scoliosis, Hyperlordosis, Patent foramen ovale, Increased...	ORPHA:457395
Chromosome 19Q13.11 Deletion Syndrome, Distal	Underdeveloped nasal alae, Sparse eyebrow, Abnormal cardiac septum morphology, Wide nasal bridge,...	OMIM:613026
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Patent ductus arteriosus, Short nose	ORPHA:2547
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Hydrocephalus, Thick nasal alae, Chorioretinal coloboma, Short nose	ORPHA:163961
Encephalocraniocutaneous Lipomatosis	Alopecia, Abnormal aortic morphology, Interrupted aortic arch, Agenesis of corpus callosum, Coarc...	ORPHA:2396
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Lateral ventricle dilatation, Depressed nasal bridge, Anteverted nares, Short nose	OMIM:613443
Recombinant 8 Syndrome	Patent ductus arteriosus, Ventricular septal defect, Low posterior hairline, Atrial septal defect...	ORPHA:96167
Bannayan-Riley-Ruvalcaba Syndrome	Wide nose, Neoplasm of the adrenal cortex, Thyroid carcinoma, Arteriovenous malformation, Aortic ...	ORPHA:109
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Wide nose, Convex nasal ridge, Coloboma, Ventricular septal defect, Decreased testicular size, Fi...	ORPHA:251028
Micro Syndrome	Wide nasal bridge, Kyphosis, Optic atrophy, Short nose, Delayed puberty, Scoliosis, Anteverted na...	ORPHA:2510
Fetal Alcohol Syndrome	Vertebral segmentation defect, Atrial septal defect, Short nose, Anteverted nares, Generalized hi...	ORPHA:1915
Microphthalmia With Limb Anomalies	Sacral dimple, Short nose, Unilateral cryptorchidism, Depressed nasal bridge, Abnormal eyelash mo...	OMIM:206920
Foxg1 Syndrome Due To 14Q12 Microdeletion	Kyphosis, Short nose, Depressed nasal bridge, Scoliosis, Bulbous nose, Agenesis of corpus callosum	ORPHA:261144
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Ventricular septal defect, Wide nasal bridge, Low-set nipples, Hypoplastic nipples, Fine hair, De...	OMIM:280000
Desmosterolosis	Patent ductus arteriosus, Hydrocephalus, Short nose, Anomalous pulmonary venous return, Depressed...	ORPHA:35107
Doors Syndrome	Double outlet right ventricle, Lumbar scoliosis, Wide nasal bridge, Optic atrophy, Arrhinencephal...	ORPHA:79500
Arthrogryposis, Distal, Type 2A	Underdeveloped nasal alae, Wide nasal bridge, Abnormal auditory evoked potentials, Short nose, Sp...	OMIM:193700
Klippel-Trénaunay Syndrome	Patent ductus arteriosus, Abnormality of the pulmonary artery, Atrial septal defect, Venous insuf...	ORPHA:90308
Prader-Willi Syndrome Due To Translocation	Patent ductus arteriosus, Patent foramen ovale, Anterior pituitary hypoplasia, Prominent nose, De...	ORPHA:177907
Kawasaki Disease	Ascending tubular aorta aneurysm, Recurrent pharyngitis, Abnormal heart valve morphology, Abnorma...	ORPHA:2331
Craniofacioskeletal Syndrome	Patent ductus arteriosus, Absent gallbladder, Ventricular septal defect, Interrupted aortic arch,...	OMIM:300712
Kallmann Syndrome	Hyposmia, Anterior hypopituitarism, Decreased testicular size, Hypothalamic gonadotropin-releasin...	ORPHA:478
Sifrim-Hitz-Weiss Syndrome	Patent ductus arteriosus, Ventricular septal defect, Fused cervical vertebrae, Atrial septal defe...	OMIM:617159
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Inverted nipples, Short nose, Depressed nasal bridge, Scoliosis, Bulbous nose, Gynecomastia	OMIM:618430
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Subvalvular aortic stenosis, Ventricular septal defect, Secundum atrial septal defect, Left ventr...	OMIM:108900
Mycophenolate Mofetil Embryopathy	Ventricular septal defect, Bifid thoracic vertebrae, Hydrocephalus, Bifid nose, Coarctation of ao...	ORPHA:268249
Schneckenbecken Dysplasia	Narrow vertebral interpedicular distance, Short nose, Short neck, Ovoid vertebral bodies, Stillbi...	OMIM:269250
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Underdeveloped nasal alae, Hyperlordosis, Decreased response to growth hormone stimulation test, ...	OMIM:616007
Chromosome 16P13.3 Duplication Syndrome	Sacral dimple, Wide nose, Ventricular septal defect, Wide nasal bridge, Synophrys, Bulbous nose, ...	OMIM:613458
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Hypoplastic sacrum, Prominent nose, Diabetes mellitus, Broad nasal tip, Low hanging columella, Sp...	OMIM:614813
Holoprosencephaly 1	Diabetes insipidus, Aplasia of the nose, Proboscis, Alobar holoprosencephaly, Cyclopia, Single ve...	OMIM:236100
Hypomandibular Faciocranial Dysostosis	Patent ductus arteriosus, Choanal stenosis, Atrial septal defect, Short nose, Anteverted nares, O...	ORPHA:1790
Nicolaides-Baraitser Syndrome	Dry hair, Sparse scalp hair, Low anterior hairline, Low posterior hairline, Long eyelashes, Short...	OMIM:601358
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Arteriovenous malformation, Venous insufficiency, Neoplasm of the thyroid gland, Neoplasm of the ...	ORPHA:137608
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Underdeveloped nasal alae, Wide intermamillary distance, Short nose, Short neck, Abnormal hair pa...	ORPHA:2083
Craniofacial-Deafness-Hand Syndrome	Aplasia/Hypoplasia involving the nose, Depressed nasal ridge, Depressed nasal bridge, Short nose	ORPHA:1529
Multisystemic Smooth Muscle Dysfunction Syndrome	Patent ductus arteriosus, Common carotid artery aneurysm, Aortic arch aneurysm, Vascular dilatati...	OMIM:613834
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Depressed nasal bridge, Cryptorchidism, Short nose	OMIM:616910
Acrodysostosis	Depressed nasal ridge, Wide nasal bridge, Hypogonadism, Spinal canal stenosis, Short nose, Depres...	ORPHA:950
Jaberi-Elahi Syndrome	Sparse eyebrow, Kyphosis, Brittle hair, Optic atrophy, Fine hair, Short nose, Depressed nasal bri...	OMIM:617988
Teebi Hypertelorism Syndrome 2	Wide anterior fontanel, Short nose, Depressed nasal bridge, Broad nasal tip, Thick eyebrow	OMIM:619736
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Sparse eyebrow, Sparse scalp hair, Decreased response to growth hormone stimulation test, Fair ha...	OMIM:129900
Transposition Of The Great Arteries, Dextro-Looped	Transposition of the great arteries	OMIM:608808
Desmosterolosis	Patent ductus arteriosus, Hydrocephalus, Short nose, Hypoplastic nasal bridge, Partial agenesis o...	OMIM:602398
Simpson-Golabi-Behmel Syndrome	Vertebral fusion, Ventricular septal defect, Wide nasal bridge, Vertebral segmentation defect, Ag...	ORPHA:373
Al-Raqad Syndrome	Atrial septal defect, Short nose	OMIM:616459
Oculodentodigital Dysplasia	Underdeveloped nasal alae, Curly hair, Ventricular septal defect, Optic atrophy, Brittle hair, Fi...	ORPHA:2710
Adult Syndrome	Alopecia, Sparse scalp hair, Wide nasal bridge, Absent nipple, Fine hair, Hypoplastic nipples, Pr...	ORPHA:978
Mosaic Variegated Aneuploidy Syndrome 1	Wide nose, Hydrocephalus, Atrial septal defect, Short nose, Depressed nasal bridge, Short neck, A...	OMIM:257300
Noonan Syndrome 3	Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Mitral valve prolapse,...	OMIM:609942
Smith-Kingsmore Syndrome	Curly hair, Wide anterior fontanel, Short nose, Depressed nasal bridge, Cryptorchidism, Umbilical...	OMIM:616638
Peters Plus Syndrome	Abnormal cardiac septum morphology, Optic atrophy, Anterior hypopituitarism, Wide intermamillary ...	ORPHA:709
Desbuquois Dysplasia 1	Hyperlordosis, Kyphosis, Short nose, Depressed nasal bridge, Short neck, Concave nasal ridge, Sco...	OMIM:251450
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Hypothyroidism, Aplasia/Hypoplasia of the eyebrow, Hydrocephalus, Supernumerary nipple, Fine hair...	ORPHA:1812
Loeys-Dietz Syndrome 2	Aortic arch aneurysm, Ascending tubular aorta aneurysm, Ascending aortic dissection, Bicuspid pul...	OMIM:610168
Cutis Laxa, Autosomal Recessive, Type Iia	Wide anterior fontanel, Brittle hair, Short nose, Inguinal hernia, Scoliosis, Anteverted nares, C...	OMIM:219200
Spinocerebellar Ataxia-Dysmorphism Syndrome	Optic atrophy, Short nose, Spina bifida occulta, Anteverted nares, Coarse hair	ORPHA:1185
Smith-Magenis Syndrome	Hypothyroidism, Precocious puberty, Wide nasal bridge, Synophrys, Short nose, Depressed nasal bri...	ORPHA:819
Acitretin/Etretinate Embryopathy	Atrioventricular canal defect, Hypoplasia of the thymus, Conotruncal defect, Anteverted nares, Hy...	ORPHA:40366
Diaphanospondylodysostosis	Absent in utero ossification of vertebral bodies, Unossified sacrum, Depressed nasal ridge, Delay...	OMIM:608022
Musculocontractural Ehlers-Danlos Syndrome	Abnormality of the cervical spine, Atlantoaxial dislocation, Cervical kyphosis, Prominent nasolab...	ORPHA:2953
Distal Trisomy 5Q	Ventricular septal defect, Aplasia/Hypoplasia of the gallbladder, Short nose, Dextrocardia, Chori...	ORPHA:96097
Cebalid Syndrome	Depressed nasal ridge, Short nose, Depressed nasal bridge, Anteverted nares, Thick eyebrow, Highl...	OMIM:618774
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Lateral ventricle dilatation, Short nose, Depressed nasal bridge, Anteverted nares, Bulbous nose,...	OMIM:614105
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Inguinal hernia, Narrow nasal bridge, Scoliosis, Short nose	ORPHA:544503
Trichorhinophalangeal Syndrome, Type Ii	Thoracolumbar scoliosis, Sparse scalp hair, Prominent nose, Lumbar scoliosis, Wide nasal bridge, ...	OMIM:150230
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Anteverted nares, Bulbous nose, Wide nasal bridge, Short nose	OMIM:613604
Chondrodysplasia With Joint Dislocations, Gpapp Type	Intervertebral space narrowing, Wide nasal bridge, Short nose	OMIM:614078
Ectodermal Dysplasia With Adrenal Cyst	Hypoplastic nipples, Breast hypoplasia, Abnormality of the endocrine system	OMIM:129550
Gomez-Lopez-Hernandez Syndrome	Alopecia, Decreased response to growth hormone stimulation test, Wide anterior fontanel, Short no...	OMIM:601853
Specc1L-Related Hypertelorism Syndrome	Patent ductus arteriosus, Ventricular septal defect, Wide nasal bridge, Widow's peak, Atrial sept...	ORPHA:1519
Aortic Aneurysm, Familial Thoracic 10	Aortic root aneurysm, Abdominal aortic aneurysm, Aortic arch aneurysm, Bicuspid aortic valve, Sco...	OMIM:617168
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Lateral ventricle dilatation, Broad nasal tip, Wide nasal bridge, Short nose	OMIM:615716
Monosomy 13Q14	Wide nasal bridge, Holoprosencephaly, Iris coloboma, Short neck, Prominent nasal bridge	ORPHA:1587
Histiocytosis-Lymphadenopathy Plus Syndrome	Patent ductus arteriosus, Pancreatic hypoplasia, Splenomegaly, Decreased response to growth hormo...	OMIM:602782
Down Syndrome	Hypothyroidism, Depressed nasal ridge, Type II diabetes mellitus, Aganglionic megacolon, Short no...	ORPHA:870
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Aortic root aneurysm, Patent ductus arteriosus, Patent foramen ovale, Hypothyroidism, Decreased r...	ORPHA:444077
Omodysplasia 1	Ventricular septal defect, Wide nasal bridge, Atrial septal defect, Short nose, Depressed nasal b...	OMIM:258315
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Coarse hair, Short nose, Scoliosis, Anteverted nares, Platyspondyly, Dilatation of the cerebral a...	OMIM:612394
Alagille Syndrome 2	Atrial septal defect, Peripheral pulmonary artery stenosis, Long nose, Tetralogy of Fallot, Pulmo...	OMIM:610205
Telangiectasia, Hereditary Hemorrhagic, Type 4	Venous varicosities of celiac and mesenteric vessels, Dilatation of mesenteric artery, Arterioven...	OMIM:610655
Pde4D Haploinsufficiency Syndrome	Irregular vertebral endplates, Prominent nose, Prominent nasal tip, Short nose, Caudal interpedic...	ORPHA:439822
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Short nose, Hydrocephalus, Depressed nasal ridge, Platyspondyly	OMIM:300863
Tetrasomy 18P	Scoliosis, Short nose	ORPHA:3307
Encephalopathy Due To Sulfite Oxidase Deficiency	Short nose	ORPHA:833
Trisomy 12P	Wide nasal bridge, Supernumerary nipple, Short nose, Short neck, Thick eyebrow	ORPHA:1699
Zttk Syndrome	Patent ductus arteriosus, Absent gallbladder, Sparse eyebrow, Curly hair, Ventricular septal defe...	OMIM:617140
Non-Functioning Pituitary Adenoma	Anterior hypopituitarism, Adrenal insufficiency, Increased circulating gonadotropin level, Second...	ORPHA:91349
Tetrasomy 12P	Sparse eyebrow, Short nose, Short neck, Anteverted nares, Sparse hair	ORPHA:884
Simpson-Golabi-Behmel Syndrome, Type 1	Wide nasal bridge, Wide intermamillary distance, Supernumerary nipple, Six lumbar vertebrae, Sple...	OMIM:312870
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Sacral dimple, Increased intervertebral space, Abnormality of the cervical spine, Severe platyspo...	ORPHA:508533
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Decreased response to growth hormone stimulation test, Short nose, Depressed nasal bridge, Crypto...	OMIM:614732
Lathosterolosis	Myelomeningocele, Bilobate gallbladder, Wide nasal bridge, Butterfly vertebrae, Foam cells with l...	OMIM:607330
Orofaciodigital Syndrome V	Ventricular septal defect, Aganglionic megacolon, Unilateral cryptorchidism, Tetralogy of Fallot,...	OMIM:174300
5Q14.3 Microdeletion Syndrome	Thick eyebrow, Optic nerve hypoplasia, Anteverted nares, Short nose	ORPHA:228384
Otopalatodigital Syndrome Type 2	Encephalocele, Myelomeningocele, Abnormal cardiac septum morphology, Hydrocephalus, Short nose, A...	ORPHA:90652
Zimmermann-Laband Syndrome 1	Aortic root aneurysm, Patent ductus arteriosus, Aortic arch aneurysm, Thick hair, Low anterior ha...	OMIM:135500
Khan-Khan-Katsanis Syndrome	Sacral dimple, Patent foramen ovale, Bilateral superior vena cava with no bridging vein, Patent d...	OMIM:618460
Pterygium Colli, Isolated	Low posterior hairline, Short nose	OMIM:177990
Macrocephaly/Autism Syndrome	Dilation of Virchow-Robin spaces, Hydrocele testis, Short nose, Depressed nasal bridge, Coarse ha...	OMIM:605309
Premature Aging Syndrome, Penttinen Type	Aplasia of the nasal bone, Convex nasal ridge, Elevated circulating thyroid-stimulating hormone c...	OMIM:601812
Criss-Cross Heart	Ventricular septal defect, Abnormal mitral valve morphology, Mitral stenosis, Tricuspid stenosis,...	ORPHA:1461
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Underdeveloped nasal alae, Sparse scalp hair, Decreased response to growth hormone stimulation te...	OMIM:615866
Warburg Micro Syndrome 3	Optic atrophy, Decreased testicular size, Wide intermamillary distance, Short nose, Kyphoscoliosi...	OMIM:614222
Pontocerebellar Hypoplasia, Type 10	Underdeveloped nasal alae, Wide nasal bridge, Synophrys, Long eyelashes, Short nose, Kyphoscolios...	OMIM:615803
3Q29 Microdeletion Syndrome	Patent ductus arteriosus, Subvalvular aortic stenosis, Short nose, Six lumbar vertebrae, Prominen...	ORPHA:65286
Johanson-Blizzard Syndrome	Underdeveloped nasal alae, Alopecia, Abnormal nostril morphology, Abnormal cardiac septum morphol...	ORPHA:2315
Marshall-Smith Syndrome	Optic atrophy, Short nose, Scoliosis, Anteverted nares, Generalized hirsutism, Choanal atresia	ORPHA:561
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Optic atrophy, Hydrocephalus, Short nose, Depressed nasal bridge, Scoliosis, Long nose, Hypertric...	OMIM:618590
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Sacral dimple, Wide nasal bridge, Aganglionic megacolon, Hydrocephalus, Hydrocele testis, Short n...	OMIM:613603
Holoprosencephaly 4	Absent nasal septal cartilage, Depressed nasal bridge, Semilobar holoprosencephaly, Depressed nas...	OMIM:142946
Diaphragmatic Hernia 4, With Cardiovascular Defects	Aortic root aneurysm, Aortopulmonary window, Ventricular septal defect, Optic nerve hypoplasia, P...	OMIM:620025
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Wide nasal bridge, Aganglionic megacolon, Hydrocephalus, Short nose, Broad nasal tip, Abnormal he...	OMIM:239300
Facial Paresis, Hereditary Congenital, 3	Facial palsy, Depressed nasal bridge, Anteverted nares, Short nose	OMIM:614744
Cerebrofaciothoracic Dysplasia	Wide nose, Vertebral segmentation defect, Synophrys, Short nose, Short neck, Scoliosis, Abnormal ...	ORPHA:1394
Gabriele-De Vries Syndrome	Patent foramen ovale, Hypothyroidism, Sparse eyebrow, Decreased response to growth hormone stimul...	ORPHA:506358
Non-Distal Trisomy 13Q	Synophrys, Wide intermamillary distance, Short nose, Abnormal eyelash morphology, Cryptorchidism,...	ORPHA:1702
Perlman Syndrome	Wide nasal bridge, Interrupted aortic arch, Depressed nasal bridge, Cryptorchidism, Pancreatic is...	OMIM:267000
Ablepharon Macrostomia Syndrome	Underdeveloped nasal alae, Absent eyelashes, Aplasia/Hypoplasia of the nipples, Fine hair, Depres...	ORPHA:920
Gaucher Disease, Type Ii	Double aortic arch, Splenomegaly	OMIM:230900
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Coloboma, Wide nasal bridge, Synophrys, Broad eyebrow, Iris coloboma, Depressed nasal tip, Thick ...	OMIM:619475
Gangliocytoma	Adrenocorticotropic hormone excess, Ganglioneuroma, Pituitary null cell adenoma, Abnormal prolact...	ORPHA:251937
Proteus-Like Syndrome	Hydrocephalus, Communicating hydrocephalus, Venous insufficiency, Polycystic ovaries, Anteverted ...	ORPHA:2969
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Short nose, Hydrocephalus, Depressed nasal ridge, Platyspondyly	ORPHA:163966
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Decreased circulating dehydroepiandrosterone-sulfate concentration, Decreased circulating cortiso...	ORPHA:95699
Microcephalic Primordial Dwarfism, Dauber Type	Prominent nose, Lumbar scoliosis, Bilateral breast hypoplasia	ORPHA:319675
Acrocallosal Syndrome	Wide anterior fontanel, Abnormal cardiac septum morphology, Coloboma, Wide nasal bridge, Optic at...	OMIM:200990
Fibrochondrogenesis 2	Short nose, Anteverted nares, Platyspondyly	OMIM:614524
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Wide nasal bridge, Short nose, Optic nerve hypoplasia, Broad nasal tip, Scoliosis, Optic disc pal...	OMIM:300749
Stuve-Wiedemann Syndrome 1	Pulmonary arterial medial hypertrophy, Abnormal autonomic nervous system physiology, Short nose, ...	OMIM:601559
Mandibuloacral Dysplasia With Type B Lipodystrophy	Alopecia, Hyperinsulinemia, Narrow nasal ridge, Brittle hair, Short nose, Prominent superficial v...	OMIM:608612
Ulnar-Mammary Syndrome	Inverted nipples, Anterior pituitary hypoplasia, Sparse lateral eyebrow, Ventricular septal defec...	OMIM:181450
Robinow Syndrome, Autosomal Recessive 2	Wide nasal bridge, Bicuspid aortic valve, Long eyelashes, Short nose, Broad nasal tip, Anteverted...	OMIM:618529
Tetrasomy 5P	Wide anterior fontanel, Wide nasal bridge, Hydrocephalus, Short nose, Short neck, Anteverted nares	ORPHA:3309
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Aortic root aneurysm, Patent ductus arteriosus, Patent foramen ovale, Fair hair, Synophrys, Hydro...	ORPHA:280633
Syndromic Diarrhea	Patent ductus arteriosus, Hypothyroidism, Hypoplasia of the thymus, Ventricular septal defect, Wi...	ORPHA:84064
Adult Syndrome	Sparse scalp hair, Fair hair, Wide intermamillary distance, Sparse axillary hair, Absent nipple, ...	OMIM:103285
Atelosteogenesis, Type I	Encephalocele, Vertebral hypoplasia, Fused cervical vertebrae, Short nose, Depressed nasal bridge...	OMIM:108720
Mandibulofacial Dysostosis, Guion-Almeida Type	Ventricular septal defect, Atrial septal defect, Short nose, Anteverted nares, Choanal atresia	OMIM:610536
Intellectual Developmental Disorder, X-Linked 21	Macroorchidism, Synophrys, Short nose	OMIM:300143
20Q11.2 Microduplication Syndrome	Sacral dimple, Wide nasal bridge, Abnormal nasal bridge morphology, Short nose, Inguinal hernia, ...	ORPHA:363659
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Depressed nasal bridge, Recurrent upper respiratory tract infections, Anteverted nares, Short nose	OMIM:614069
Pontocerebellar Hypoplasia, Type 2E	Wide nose, Scoliosis, Optic atrophy, Short nose	OMIM:615851
Intellectual Developmental Disorder, Autosomal Dominant 1	Prominent nose, Depressed nasal ridge, Bulbous nose, Long eyelashes, Short nose, Short columella,...	OMIM:156200
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Optic atrophy, Scoliosis, Low anterior hairline, Short nose	ORPHA:329178
Peho Syndrome	Peripheral dysmyelination, Optic atrophy, Short nose	OMIM:260565
Ohdo Syndrome	Sparse eyebrow, Wide nasal bridge, Short nose, Depressed nasal bridge, Anteverted nares, Cryptorc...	OMIM:249620
Alkuraya-Kucinskas Syndrome	Pericardial effusion, Hydrocephalus, Short nose, Depressed nasal bridge, Anteverted nares	OMIM:617822
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Prominent nasolabial fold, Short nose, Inguinal hernia, Broad nasal tip, Anteverted nares, Coarse...	ORPHA:357074
Oculodentodigital Dysplasia	Underdeveloped nasal alae, Dry hair, Vertebral hyperostosis, Atrial septal defect, Short nose, Fi...	OMIM:164200
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Patent foramen ovale, Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Cr...	OMIM:618748
Acrofacial Dysostosis, Catania Type	Short nose, Spina bifida occulta, Inguinal hernia, Abnormal hair pattern, Cryptorchidism, Coarse ...	ORPHA:1786
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Kyphosis, Synophrys, Short nose, Complete atrioventricular canal defect, Scoliosis	ORPHA:476126
Microtia	Holoprosencephaly	ORPHA:83463
Cenani-Lenz Syndrome	Hypothyroidism, Convex nasal ridge, Short nose, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:3258
Melanocytic Nevus Syndrome, Congenital	Broad nasal tip, Narrow nasal ridge, Anteverted nares, Short nose	OMIM:137550
Degcags Syndrome	Premature graying of hair, Synophrys, Hepatosplenomegaly, Abnormal eyelash morphology, Sacral dim...	OMIM:619488
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Biconcave vertebral bodies, Thoracic kyphosis, Narrow vertebral interpedicular distance, Short no...	OMIM:271510
Chromosome 3Q29 Duplication Syndrome	Low posterior hairline, Bulbous nose, Wide nasal bridge, Short nose	OMIM:611936
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Underdeveloped nasal alae, Meningocele, Short nose, Chorioretinal coloboma, Anteverted nares	ORPHA:2031
Meier-Gorlin Syndrome 2	Underdeveloped nasal alae, Breast hypoplasia	OMIM:613800
Monosomy 9Q22.3	Kyphosis, Hydrocephalus, Short nose, Cardiac fibroma, Short neck, Abnormality of the vertebral co...	ORPHA:77301
Microtia-Anotia	Holoprosencephaly	OMIM:600674
Esophageal Atresia	Coloboma, Ventricular septal defect, Maternal diabetes, Abnormal vertebral morphology, Coarctatio...	ORPHA:1199
Craniosynostosis, Herrmann-Opitz Type	Convex nasal ridge, Short nose	ORPHA:2145
Gaucher Disease, Perinatal Lethal	Short nose, Hepatosplenomegaly, Depressed nasal bridge, Anteverted nares, Cardiomegaly, Neonatal ...	OMIM:608013
Kaposi Sarcoma	Abnormality of the spleen, Generalized lymphadenopathy, Venous insufficiency	ORPHA:33276
Enlarged Parietal Foramina	Occipital encephalocele, Myelomeningocele, Venous malformation, Abnormal cerebral vein morphology	ORPHA:60015
Ctcf-Related Neurodevelopmental Disorder	Patent ductus arteriosus, Sacral dimple, Synophrys, Long eyelashes, Atrial septal defect, Short n...	ORPHA:363611
Panhypophysitis	Increased circulating prolactin concentration, Abnormal size of pituitary gland, Gonadotropin def...	ORPHA:95513
Cat Eye Syndrome	Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect, Hypoplastic left heart...	OMIM:115470
Opsismodysplasia	Short nose, Hypoplastic vertebral bodies, Depressed nasal bridge, Abnormally ossified vertebrae, ...	ORPHA:2746
Pituitary Deficiency Due To Rathke Cleft Cysts	Enlarged pituitary gland, Diabetes insipidus, Increased circulating prolactin concentration, Opti...	ORPHA:91350
Mandibulofacial Dysostosis-Microcephaly Syndrome	Atrial septal defect, Short nose	ORPHA:79113
Neu-Laxova Syndrome 1	Patent ductus arteriosus, Wide nose, Patent foramen ovale, Depressed nasal ridge, Ventricular sep...	OMIM:256520
Miller-Dieker Lissencephaly Syndrome	Sacral dimple, Wide nasal bridge, Short nose, Inguinal hernia, Abnormal heart morphology, Antever...	OMIM:247200
Robinow Syndrome, Autosomal Recessive 1	Thoracolumbar scoliosis, Hypoplastic sacrum, Vertebral fusion, Wide anterior fontanel, Wide nasal...	OMIM:268310
Geleophysic Dysplasia 2	Mitral stenosis, Mitral valve prolapse, Short nose, Ovoid vertebral bodies, Tricuspid stenosis, A...	OMIM:614185
Leukodystrophy, Hypomyelinating, 10	Bulbous nose, Prominent eyelashes, Anteverted nares, Short nose	OMIM:616420
Blomstrand Lethal Chondrodysplasia	Short nose, Coarctation of aorta, Depressed nasal bridge, Anteverted nares, Platyspondyly	ORPHA:50945
Meier-Gorlin Syndrome 3	Sparse axillary hair, Sparse pubic hair, Cryptorchidism, Prominent nasal bridge, Breast hypoplasia	OMIM:613803
Pituitary Carcinoma	Pituitary thyrotropic cell adenoma, Enlarged pituitary gland, Diabetes insipidus, Pituitary corti...	ORPHA:300385
Okamoto Syndrome	Underdeveloped nasal alae, Ventricular septal defect, Wide nasal bridge, Abnormal mitral valve mo...	ORPHA:2729
Duplication Of The Pituitary Gland	Abnormality of the cervical spine, Encephalocele, Abnormal hypothalamus morphology, Abnormality o...	ORPHA:314621
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Thoracolumbar scoliosis, Short nose, Depressed nasal bridge, Short neck, Scoliosis, Platyspondyly	OMIM:616723
Rhombencephalosynapsis	Septo-optic dysplasia, Aganglionic megacolon, Hydrocephalus, Short nose, Fusion of the left and r...	ORPHA:59315
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency	Venous insufficiency, Abnormal cerebral vascular morphology	ORPHA:745
Nablus Mask-Like Facial Syndrome	Sparse eyebrow, Wide nasal bridge, Frontal upsweep of hair, Wide intermamillary distance, Absent ...	OMIM:608156
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Thyroid hypoplasia, Optic nerve hypoplasia, Short neck, Decreased cervical spine mobility, Decrea...	ORPHA:226307
Foix-Alajouanine Syndrome	Back pain, Low back pain, Arteriovenous fistula, Cervical myelopathy, Venous malformation, Myelop...	ORPHA:79093
Fetal Hydantoin Syndrome	Depressed nasal ridge, Wide intermamillary distance, Short nose, Cryptorchidism, Coarse hair, Low...	ORPHA:1912
Gjc2-Related Late-Onset Primary Lymphedema	Hypoplasia of lymphatic vessels, Varicose veins, Abnormal lymphatic vessel morphology, Venous ins...	ORPHA:568051
Otopalatodigital Syndrome, Type I	Wide nasal bridge, Short nose, Scoliosis, Omphalocele, Nail dystrophy	OMIM:311300
Williams Syndrome	Hypothyroidism, Aortic arch aneurysm, Precocious puberty, Wide nasal bridge, Abnormal carotid art...	ORPHA:904
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Sparse lateral eyebrow, Short nose, Depressed nasal bridge, Abnormal heart morphology, Anteverted...	ORPHA:314655
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Anteverted nares, Short nose	OMIM:619854
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Patent ductus arteriosus, Hydrocele testis, Atrial septal defect, Short nose, Depressed nasal bri...	OMIM:614080
Chromosome 1P36 Deletion Syndrome, Distal	Hypothyroidism, Wide nasal bridge, Lateral ventricle dilatation, Optic atrophy, Synophrys, Optic ...	OMIM:607872
Meier-Gorlin Syndrome 4	Breast hypoplasia, Cryptorchidism	OMIM:613804
Robinow Syndrome, Autosomal Dominant 2	Sacral dimple, Short nose, Kyphoscoliosis, Depressed nasal bridge, Anteverted nares, Cryptorchidi...	OMIM:616331
Alagille Syndrome 1	Ventricular septal defect, Butterfly vertebral arch, Bulbous nose, Long nose, Coarctation of aort...	OMIM:118450
Meier-Gorlin Syndrome 1	Hemivertebrae, Long eyelashes, Breast hypoplasia, Cryptorchidism	OMIM:224690
Baller-Gerold Syndrome	Abnormal cardiac septum morphology, Short nose, Narrow nasal bridge, Scoliosis, Prominent nasal b...	ORPHA:1225
Loeys-Dietz Syndrome 3	Aortic tortuosity, Ventricular hypertrophy, Ascending aortic dissection, Thoracic aortic aneurysm...	OMIM:613795
Brain Malformations With Or Without Urinary Tract Defects	Inguinal hernia, Agenesis of corpus callosum, Anteverted nares, Short nose	OMIM:613735
Acromesomelic Dysplasia 1	Lower thoracic kyphosis, Short nail, Short nose, Ovoid vertebral bodies, Beaking of vertebral bod...	OMIM:602875
Helsmoortel-Van Der Aa Syndrome	Hyperlordosis, High anterior hairline, Decreased response to growth hormone stimulation test, Wid...	OMIM:615873
Opsismodysplasia	Severe platyspondyly, Hypoplasia of the odontoid process, Hypoplastic vertebral bodies, Short nos...	OMIM:258480
1P36 Deletion Syndrome	Hypothyroidism, Aortic arch aneurysm, Wide nasal bridge, Abnormal cardiac septum morphology, Opti...	ORPHA:1606
Achondrogenesis, Type Ia	Hypoplastic sacrum, Short nose, Unossified vertebral bodies, Hypoplastic nasal bridge, Depressed ...	OMIM:200600
Prolidase Deficiency	Short nose, Depressed nasal bridge, Concave nasal ridge, Low posterior hairline, Facial hirsutism...	OMIM:170100
Microlissencephaly-Micromelia Syndrome	Generalized hypertrichosis, Short nose, Short neck, Hypoparathyroidism, Abnormal calcium-phosphat...	ORPHA:50810
Restrictive Dermopathy	Patent ductus arteriosus, Sparse eyebrow, Aplasia/Hypoplasia involving the nose, Ascending tubula...	ORPHA:1662
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Venous insufficiency, Abnormal cerebral vascular morphology	ORPHA:743
Deeah Syndrome	Cervical hemivertebrae, Anterior pituitary hypoplasia, Decreased response to growth hormone stimu...	OMIM:619004
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Splenomegaly, Spinal dysraphism, Scoliosis, Venous malformation	OMIM:612918
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Hirsutism, Sparse hair, Short nose	OMIM:618087
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Short nose	ORPHA:289266
Hemihyperplasia-Multiple Lipomatosis Syndrome	Abnormal cerebral vascular morphology, Hydrocele testis, Scoliosis, Ovarian serous cystadenoma, A...	ORPHA:276280
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Absent gallbladder, Sparse eyebrow, Patent ductus arteriosus after birth at term, Curly hair, Isc...	ORPHA:500150
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Thoracolumbar scoliosis, Pancreatic cysts, Pancreatic hypoplasia, Elevated circulating thyroid-st...	OMIM:610199
Atrial Septal Defect 1	Subvalvular aortic stenosis, Ventricular septal defect, Tetralogy of Fallot with pulmonary atresi...	OMIM:108800
Schinzel-Giedion Syndrome	Central hypothyroidism, Choanal stenosis, Wide anterior fontanel, Neural tube defect, Aganglionic...	ORPHA:798
X-Linked Intellectual Disability, Cantagrel Type	Short nose	ORPHA:85277
Angioosteohypotrophic Syndrome	Prominent superficial veins, Venous malformation	ORPHA:75508
Meningioma	Enlarged pituitary gland, Decreased circulating cortisol level, Secondary growth hormone deficien...	ORPHA:2495
Dysmorphism-Short Stature-Deafness-Disorder Of Sex Development Syndrome	Patent ductus arteriosus, Wide nasal bridge, Short nose, Short neck, Anteverted nares, Cryptorchi...	ORPHA:2282
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Horizontal eyebrow, Abnormal location of the eyebrow, Prominent nasal tip, Widow's peak, Atrial s...	ORPHA:522077
Glossopharyngeal Neuralgia	Vascular dilatation, Abnormality of the cervical spine, Cranial nerve compression, Abnormal gloss...	ORPHA:221098
Adenohypophysitis	Increased circulating prolactin concentration, Abnormal size of pituitary gland, Gonadotropin def...	ORPHA:95512
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Patent ductus arteriosus, Ventricular septal defect, Coarctation of aorta, Cryptorchidism, Absent...	OMIM:600460
Lymphedema-Distichiasis Syndrome	Patent ductus arteriosus, Ventricular septal defect, Kyphosis, Yellow nails, Distichiasis, Tetral...	OMIM:153400
Malan Syndrome	Scoliosis, Short nose	OMIM:614753
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Patent ductus arteriosus, Patent foramen ovale, Interrupted aortic arch, Coarctation of aorta, Hy...	ORPHA:17
Williams-Beuren Syndrome	Hypothyroidism, Medial flaring of the eyebrow, Coronary artery stenosis, Premature graying of hai...	OMIM:194050
Autosomal Dominant Omodysplasia	Depressed nasal bridge, Cryptorchidism, Short nose	ORPHA:93328
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Underdeveloped nasal alae, Kyphosis, Long eyelashes, Short nose, Low insertion of columella, Depr...	OMIM:619005
Spondylocarpotarsal Synostosis Syndrome	Hyperlordosis, Vertebral fusion, C2-C3 subluxation, Block vertebrae, Vertebral segmentation defec...	OMIM:272460
Monosomy 9P	Low posterior hairline, Synophrys, Wide intermamillary distance, Short nose, Depressed nasal brid...	ORPHA:261112
Milroy Disease	Hydrocele testis, Abnormal venous morphology, Varicose veins	ORPHA:79452
Telangiectasia, Hereditary Hemorrhagic, Type 1	Venous varicosities of celiac and mesenteric vessels, Dilatation of mesenteric artery, Gastrointe...	OMIM:187300
Thoracoabdominal Syndrome	Patent ductus arteriosus, Anencephaly, Hydrocephalus, Ectopia cordis, Omphalocele, Transposition ...	OMIM:313850
X-Linked Acrogigantism	Enlarged pituitary gland, Diabetes insipidus, Increased circulating prolactin concentration, Hypo...	ORPHA:300373
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Underdeveloped nasal alae, Sparse eyebrow, Hypoplasia of the frontal bone, Cranium bifidum occult...	ORPHA:306542
Diamond-Blackfan Anemia 8	Wide nasal bridge, Short nose	OMIM:612563
Chime Syndrome	Pulmonary valve atresia, Ventricular septal defect, Depressed nasal ridge, Aplasia/Hypoplasia of ...	ORPHA:3474
Adams-Oliver Syndrome 1	Alopecia, Encephalocele, Ventricular septal defect, Bicuspid aortic valve, Supernumerary nipple, ...	OMIM:100300
Schinzel-Giedion Midface Retraction Syndrome	Sacrococcygeal teratoma, Choanal stenosis, Atrial septal defect, Short nose, Depressed nasal brid...	OMIM:269150
Poikiloderma With Neutropenia	Underdeveloped nasal alae, Sparse eyebrow, Sparse lateral eyebrow, Recurrent sinusitis, Short nos...	OMIM:604173
Prolactinoma	Female hypogonadism, Hypogonadism, Gynecomastia, Anterior hypopituitarism, Decreased circulating ...	ORPHA:2965
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Depressed nasal bridge, Long eyelashes, Short nose	OMIM:617802
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Short nose, Broad columella, Depressed nasal bridge, Thick eyebrow, Highly arched eyebrow	OMIM:617865
Isotretinoin Embryopathy-Like Syndrome	Hydrocephalus, Conotruncal defect	OMIM:243440
Neurodegeneration With Brain Iron Accumulation 2A	Decreased nerve conduction velocity, Optic atrophy, Short nose	OMIM:256600
Tetrasomy 9P	Juxtaductal coarctation of the aorta, Sacral dimple, Patent foramen ovale, Convex nasal ridge, Ab...	ORPHA:3310
Alzahrani-Kuwahara Syndrome	Patent foramen ovale, Prominent nose, Ventricular septal defect, Coronary sinus enlargement, Atri...	OMIM:619268
Autosomal Dominant Robinow Syndrome	Sacral dimple, Wide nose, Alopecia, Wide nasal bridge, Long eyelashes, Short nose, Inguinal herni...	ORPHA:3107
Spondyloepiphyseal Dysplasia, Nishimura Type	Short nose	OMIM:618618
Familial Bicuspid Aortic Valve	Aortic arch aneurysm, Bicuspid aortic valve, Abnormal left ventricular outflow tract morphology, ...	ORPHA:402075
Mowat-Wilson Syndrome	Patent ductus arteriosus, Ventricular septal defect, Wide nasal bridge, Broad eyebrow, Prominent ...	OMIM:235730
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Broad nasal tip, Wide nasal bridge, Short nose	OMIM:614207
Trisomy 10P	Absent gallbladder, Abnormal auditory evoked potentials, Short nose, Depressed nasal bridge, Abno...	ORPHA:171929
Congenital Tracheal Stenosis	Anomalous origin of left pulmonary artery from ascending aorta, Patent ductus arteriosus, Ventric...	ORPHA:141127
Distal Monosomy 9P	Wide intermamillary distance, Short neck, Wide nasal bridge, Short nose	ORPHA:1642
Autosomal Recessive Omodysplasia	Depressed nasal bridge, Cryptorchidism, Anteverted nares, Short nose	ORPHA:93329
Tsh-Secreting Pituitary Adenoma	Enlarged pituitary gland, Pericardial effusion, Euthyroid hyperthyroxinemia, Increased circulatin...	ORPHA:91347
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Abnormal nostril morphology, Synophrys, Short nose, Anosmia, Hypogonadotropic hypogonadism	ORPHA:1295
Kleefstra Syndrome 1	Synophrys, Conotruncal defect, Anteverted nares, Cryptorchidism	OMIM:610253
Sponastrime Dysplasia	Wide nose, Hypothyroidism, Biconcave vertebral bodies, Aplasia of the nasal bone, Precocious pube...	ORPHA:93357
Right Pulmonary Artery, Anomalous Origin Of, Familial	Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Anomalous origin of ri...	OMIM:610338
Raine Syndrome	Choanal stenosis, Hydrocephalus, Short nose, Depressed nasal bridge, Short neck, Neonatal death, ...	OMIM:259775
Cerebrooculonasal Syndrome	Sparse eyebrow, Encephalocele, Proboscis, Hydrocephalus, Short nose, Optic nerve hypoplasia, Iris...	OMIM:605627
Peho Syndrome	Optic atrophy, Hydrocephalus, Anteverted nares, Short nose	ORPHA:2836
Pfeiffer Syndrome	Choanal stenosis, Hydrocephalus, Short nose, Depressed nasal bridge, Choanal atresia	OMIM:101600
Carey-Fineman-Ziter Syndrome	Facial palsy, Scoliosis, Anteverted nares, Short nose	ORPHA:1358
Bartsocas-Papas Syndrome	Underdeveloped nasal alae, Aplasia/Hypoplasia of the eyebrow, Alopecia totalis, Short nose, Spars...	ORPHA:1234
Carpenter Syndrome 2	Patent ductus arteriosus, Sparse eyebrow, Wide nasal bridge, Narrow naris, Wide intermamillary di...	OMIM:614976
19P13.13 Microdeletion Syndrome	Optic atrophy, Long eyelashes, Short nose, Optic nerve hypoplasia, Depressed nasal bridge, Anteve...	ORPHA:357001
Vater/Vacterl Association	Patent ductus arteriosus, Abnormal nasopharynx morphology, Ventricular septal defect, Spina bifid...	OMIM:192350
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Short nose	ORPHA:1389
Arteriovenous Malformations Of The Brain	Cerebral arteriovenous malformation	OMIM:108010
Witteveen-Kolk Syndrome	Medial flaring of the eyebrow, Wide nasal bridge, Unilateral cryptorchidism, Iris coloboma, High ...	OMIM:613406
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Optic atrophy, Kyphosis, Short nose, Hirsutism, Congenital hypothyroidism	OMIM:617527
Osteoglophonic Dysplasia	Short nose, Platyspondyly, Depressed nasal bridge, Short neck, Inguinal hernia, Cryptorchidism, A...	OMIM:166250
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Epistaxis, Cerebral hemorrhage, Short nose	OMIM:277450
Meier-Gorlin Syndrome 6	Underdeveloped nasal alae, Decreased response to growth hormone stimulation test, Depressed nasal...	OMIM:616835
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Mitral valve prolapse, Atrial septal defect, Short nose, Short columella, Scoliosis, Hiatus herni...	OMIM:601776
Bartsocas-Papas Syndrome 1	Underdeveloped nasal alae, Patent foramen ovale, Alopecia, Sparse scalp hair, Absent eyelashes, W...	OMIM:263650
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Wide nasal bridge, Atrial septal defect, Short nose, Inguinal hernia, Short neck, Cryptorchidism,...	OMIM:609945
Trichothiodystrophy 1, Photosensitive	Tiger tail banding, Pili torti, Hypogonadism, Trichorrhexis nodosa, Brittle hair, Fine hair, Shor...	OMIM:601675
Warburg Micro Syndrome 2	Optic atrophy, Short nose, Cryptorchidism, Prominent nasal bridge, Low anterior hairline	OMIM:614225
Intellectual Developmental Disorder, X-Linked 98	Underdeveloped nasal alae, Central hypothyroidism, Short nose, Depressed nasal bridge, Anteverted...	OMIM:300912
Rothmund-Thomson Syndrome, Type 2	Alopecia, Sparse eyebrow, Sparse scalp hair, Hypogonadism, Premature graying of hair, Absent eyel...	OMIM:268400
16P11.2P12.2 Microdeletion Syndrome	Absent nasal bridge, Short nose, Anteverted nares, Long nose, Bulbous nose	ORPHA:261211
Telangiectasia, Hereditary Hemorrhagic, Type 2	Gastrointestinal telangiectasia, Hepatic arteriovenous malformation, Ischemic stroke, Cerebral he...	OMIM:600376
Marshall Syndrome	Sparse eyebrow, Wide nasal bridge, Short nose, Depressed nasal bridge, Anteverted nares, Sparse e...	ORPHA:560
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Patent ductus arteriosus, Ventricular septal defect, Wide nasal bridge, Hydrocele testis, Atrial ...	OMIM:619522
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome	Depressed nasal bridge, Short nose	ORPHA:2835
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Underdeveloped nasal alae, Sparse body hair, Sparse eyebrow, Rhinitis, Brittle hair, Absent eyela...	OMIM:305100
Juvenile Polyposis Syndrome	Hepatic arteriovenous malformation, Transient ischemic attack, Arteriovenous malformation, Pulmon...	ORPHA:2929
Neurocardiofaciodigital Syndrome	Patent ductus arteriosus, Sparse eyebrow, Overhanging nasal tip, Lateral ventricle dilatation, Op...	OMIM:619869
Lathosterolosis	Meningocele, Short nose, Anteverted nares, Bulbous nose, Abnormal thoracic spine morphology	ORPHA:46059
Plaa-Associated Neurodevelopmental Disorder	Optic atrophy, Hirsutism, Kyphosis, Short nose	ORPHA:521426
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Depressed nasal bridge, Anteverted nares, Short nose	OMIM:242860
Pallister-Killian Syndrome	Wide nasal bridge, Supernumerary nipple, Hypertrophic cardiomyopathy, Short neck, Sparse eyelashe...	OMIM:601803
Livedoid Vasculopathy	Ischemic stroke, Abnormal capillary morphology, Venous insufficiency, Graves disease, Diabetes me...	ORPHA:542643
Acrocephalopolydactylous Dysplasia	Polysplenia, Short nose, Short neck, Pancreatic fibrosis, Omphalocele	OMIM:200995
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Underdeveloped nasal alae, Synophrys, Thin eyebrow, Short nose, Short columella, Delayed peripher...	ORPHA:364577
Clapo Syndrome	Varicose veins, Venous malformation, Lymphangioma, Ganglioneuroma	ORPHA:168984
Wiedemann-Steiner Syndrome	Sacral dimple, Decreased response to growth hormone stimulation test, Wide nasal bridge, Synophry...	ORPHA:319182
Menkes Disease	Vascular dilatation, Abnormal carotid artery morphology, Intracranial hemorrhage, Arterial stenos...	ORPHA:565
Pfeiffer Syndrome Type 2	Aqueductal stenosis, Hydrocephalus, Short nose, Depressed nasal bridge, Choanal atresia	ORPHA:93259
Temtamy Preaxial Brachydactyly Syndrome	Abnormal optic disc morphology, Optic atrophy, Short nose	ORPHA:363417
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Patent ductus arteriosus, Patent foramen ovale, Abnormality of the anterior pituitary, Precocious...	ORPHA:438213
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Sacral dimple, Wide nasal bridge, Narrow naris, Frontal hirsutism, Short nose, Depressed nasal br...	OMIM:617157
Toluene Embryopathy	Cryptorchidism, Short nose	ORPHA:1920
Marshall Syndrome	Short nose, Depressed nasal bridge, Anteverted nares, Platyspondyly	OMIM:154780
White-Kernohan Syndrome	Underdeveloped nasal alae, Hypothyroidism, Horizontal eyebrow, Synophrys, Long eyelashes, Short n...	OMIM:619426
Aspartylglucosaminuria	Anterior beaking of lumbar vertebrae, Macroorchidism, Wide nasal bridge, Abnormal vertebral morph...	ORPHA:93
Oculocerebral Hypopigmentation Syndrome, Cross Type	Short nose, Hypopigmentation of hair, Depressed nasal bridge, Inguinal hernia, Anteverted nares, ...	ORPHA:2719
Short Rib-Polydactyly Syndrome	Absent or minimally ossified vertebral bodies, Depressed nasal bridge, Situs inversus totalis, Ab...	ORPHA:1505
Adenylosuccinase Deficiency	Anteverted nares, Short nose	OMIM:103050
Microphthalmia With Limb Anomalies	Abnormal eyebrow morphology, Optic atrophy, Arrhinencephaly, Hydrocephalus, Venous insufficiency,...	ORPHA:1106
Menke-Hennekam Syndrome 1	Underdeveloped nasal alae, Depressed nasal ridge, Long eyelashes, Short nose, Inguinal hernia, Sh...	OMIM:618332
Stickler Syndrome	Depressed nasal ridge, Kyphosis, Mitral valve prolapse, Spinal canal stenosis, Short nose, Depres...	ORPHA:828
Antley-Bixler Syndrome	Short nose, Anteverted nares, Choanal atresia	ORPHA:83
Frontofacionasal Dysplasia	Underdeveloped nasal alae, Hypoplasia of the frontal bone, Cranium bifidum occultum, Bifid nose, ...	OMIM:229400
Geleophysic Dysplasia 1	Mitral stenosis, Short nose, Anteverted nares, Tricuspid stenosis, Aortic valve stenosis	OMIM:231050
Pfeiffer Syndrome Type 1	Depressed nasal bridge, Aqueductal stenosis, Short nose	ORPHA:93258
Faciodigitogenital Syndrome, Autosomal Recessive	Vertebral fusion, Widow's peak, Short nose, Inguinal hernia, Anteverted nares, Cryptorchidism, Pr...	OMIM:227330
Coffin-Lowry Syndrome	Wide nose, Kyphosis, Lumbar kyphosis, Thick nasal septum, Short nose, Broad columella, Inguinal h...	OMIM:303600
Molybdenum Cofactor Deficiency, Complementation Group B	Axonal loss, Neonatal death, Peripheral demyelination, Short nose	OMIM:252160
Cornelia De Lange Syndrome	Ventricular septal defect, Synophrys, Long eyelashes, Atrial septal defect, Short nose, Thick eye...	ORPHA:199
Mietens Syndrome	Wide nose, Wide nasal bridge, Short nose	ORPHA:2557
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Enlarged naris, Depressed nasal ridge, Wide anterior fontanel, Hypoplasia of the odontoid process...	OMIM:271665
Mandibuloacral Dysplasia With Type B Lipodystrophy	Alopecia, Convex nasal ridge, Short nose, Delayed puberty, Abnormal hair morphology, Nail dystrophy	ORPHA:90154
Pfeiffer Syndrome Type 3	Short nose, Depressed nasal bridge, Aqueductal stenosis, Choanal atresia	ORPHA:93260
Phosphoribosylpyrophosphate Synthetase Superactivity	Convex nasal ridge, Short nose, Depressed nasal bridge, Peripheral axonal neuropathy, Cryptorchid...	OMIM:300661
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Optic atrophy, Short nose, Depressed nasal bridge, Broad nasal tip, Scoliosis, Cryptorchidism, Lo...	OMIM:309590
Toriello-Lacassie-Droste Syndrome	Aganglionic megacolon, Agenesis of corpus callosum, Anteverted nares, Short nose	ORPHA:3339
Phocomelia, Schinzel Type	Meningocele, Short nose, Short neck, Cryptorchidism, Aplasia/Hypoplasia of the sacrum	ORPHA:2879
Robinow Syndrome, Autosomal Dominant 1	Sacral dimple, Wide anterior fontanel, Wide nasal bridge, Long eyelashes, Short nose, Inguinal he...	OMIM:180700
Renal And Mullerian Duct Hypoplasia	Hydrocele testis, Short nose	OMIM:266810
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Short nose	ORPHA:1129
Occipital Horn Syndrome	Vascular dilatation, Kyphosis, Coarse hair, Venous insufficiency, Inguinal hernia, Scoliosis, Pla...	ORPHA:198
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Asplenia, Convex nasal ridge, Wide nasal bridge, Lateral ventricle dilatation, Optic atrophy, Bro...	ORPHA:261552
Hypothyroidism, Congenital, Nongoitrous, 5	Patent foramen ovale, Hypothyroidism, Decreased circulating free T4 concentration, Elevated circu...	OMIM:225250
Angioosteohypertrophic Syndrome	Scoliosis, Peripheral arteriovenous fistula, Tricuspid valve prolapse, Venous insufficiency	ORPHA:2346
Igg4-Related Thyroid Disease	Hypothyroidism, Nodular goiter, Thyroiditis, Thyrotoxicosis with diffuse goiter, Graves disease, ...	ORPHA:64744
Ayme-Gripp Syndrome	Sparse scalp hair, Wide nasal bridge, Broad eyebrow, Short nose, Pericarditis, Depressed nasal br...	OMIM:601088
Peroxisome Biogenesis Disorder 4B	Adrenal insufficiency, Decreased nerve conduction velocity, Optic atrophy, Short nose	OMIM:614863
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Asplenia, Convex nasal ridge, Wide nasal bridge, Lateral ventricle dilatation, Broad eyebrow, Abn...	ORPHA:261537
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Alopecia, Abnormal size of pituitary gland, Decreased response to growth hormone stimulation test...	ORPHA:293978
Lipodystrophy, Familial Partial, Type 7	Sparse scalp hair, Narrow nasal ridge, Pulmonary arteriovenous malformation, Type I diabetes mell...	OMIM:606721
Hypermobile Ehlers-Danlos Syndrome	Ascending tubular aorta aneurysm, Arterial dissection, Venous insufficiency, Inguinal hernia, Dec...	ORPHA:285
Mowat-Wilson Syndrome	Asplenia, Wide nasal bridge, Abnormal cardiac septum morphology, Broad eyebrow, Prominent nasal t...	ORPHA:2152
Molybdenum Cofactor Deficiency, Complementation Group A	Axonal loss, Peripheral demyelination, Short nose	OMIM:252150
Igg4-Related Kidney Disease	Abnormality of the anterior pituitary, Lymphadenitis, Abnormal aortic morphology, Thyroiditis, Pe...	ORPHA:449395
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Alopecia, Convex nasal ridge, Optic atrophy, Decreased testicular size, Hydrocephalus, Short nose...	OMIM:619321
Autosomal Recessive Faciodigitogenital Syndrome	Dry hair, Widow's peak, Short nose, Hypopigmentation of hair, Anteverted nares, Coarse hair, Prom...	ORPHA:1974
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth	Varicose veins, Venous malformation	OMIM:613089
C Syndrome	Sacral dimple, Short nose, Depressed nasal bridge, Short neck, Abnormal hair pattern, Anteverted ...	ORPHA:1308
Glomuvenous Malformation	Arteriovenous malformation, Gastrointestinal arteriovenous malformation, Venous malformation, Abn...	ORPHA:83454
Familial Cerebral Cavernous Malformation	Neuroma, Scoliosis, Venous malformation, Cerebral hemorrhage	ORPHA:221061
Craniofacial-Deafness-Hand Syndrome	Depressed nasal bridge, Narrow naris, Short nose	OMIM:122880
Dend Syndrome	Anteverted nares, Short nose	ORPHA:79134
Penile Agenesis	Ventricular septal defect, Maternal diabetes, Atrial septal defect, Short nose, Depressed nasal b...	ORPHA:49
Orofaciodigital Syndrome Type 4	Wide nose, Depressed nasal ridge, Decreased testicular size, Primary adrenal insufficiency, Short...	ORPHA:2753
Norrie Disease	Optic atrophy, Venous insufficiency, Diabetes mellitus, Delayed puberty, Remnants of the hyaloid ...	ORPHA:649
Igg4-Related Ophthalmic Disease	Abnormality of the anterior pituitary, Sialadenitis, Abnormal fifth cranial nerve morphology, Thy...	ORPHA:449563
Hepatocellular Carcinoma	Type II diabetes mellitus, Venous insufficiency	ORPHA:88673
1P21.3 Microdeletion Syndrome	Broad nasal tip, Short nose	ORPHA:293948
Aprosencephaly Syndrome	Anencephaly, Aprosencephaly	OMIM:207770
Aprosencephaly And Cerebellar Dysgenesis	Aprosencephaly	OMIM:601374

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 Dhx35

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 Dhx35.

There are 6 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)	Dhx35^{tm1b(EUCOMM)Wtsi}	PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation.	Nature immunology (December 2019)	Dhx35^{tm1b(EUCOMM)Wtsi}	PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Dhx35^{tm1b(EUCOMM)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Dhx35^{tm1b(EUCOMM)Wtsi}	PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation.	Scientific data (September 2017)	Dhx35^{tm1b(EUCOMM)Wtsi}	PMC5827107
Highly variable penetrance of abnormal phenotypes in embryonic lethal knockout mice.	Wellcome open research (January 2016)	Dhx35^{tm1b(EUCOMM)Wtsi}	PMC5159622

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MGI Allele	Allele Type	Produced
Dhx35^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Dhx35^{tm1b(EUCOMM)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice
Dhx35^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Dhx35 MGI:1918965

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

X-ray

DSS Histology

X-ray

X-ray

Anti-nuclear antibody assay

Eye Morphology

Ear epidermis immunophenotyping

Legacy Phenotype Associated Images

Human diseases caused by Dhx35 mutations

Histopathology

IMPC related publications

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Access Data Release 19.0 Data