Synpolydactyly 1 |
|
Finger syndactyly, Short middle phalanx of the 5th finger, Preaxial foot polydactyly, Clinodactyl... |
OMIM:186000 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
Joubert Syndrome 13 |
|
Molar tooth sign on MRI, Cerebellar vermis hypoplasia |
OMIM:614173 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Polydactyly, Preaxial Ii |
|
Preaxial hand polydactyly, Preaxial foot polydactyly, Complete duplication of distal phalanx of t... |
OMIM:174500 |
Syndactyly Type 2 |
|
Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, S... |
ORPHA:93403 |
Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Reduced proximal interphalangeal joint space, Abnormal palmar dermatoglyphics, Finger syndactyly,... |
ORPHA:3246 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Genu valgum, Molar tooth sign on MRI, Clinodactyly, Spindle-shaped finger, Cutaneous syndactyly, ... |
ORPHA:166024 |
Lambert Syndrome |
|
Ventricular septal defect, Branchial anomaly, Intrauterine growth retardation |
ORPHA:1296 |
Septopreoptic Holoprosencephaly |
|
Ethmoidal encephalocele, Precocious puberty, Anterior hypopituitarism, Central diabetes insipidus... |
ORPHA:280195 |
Syndactyly, Type Iii |
|
4-5 finger syndactyly, Syndactyly, Short 5th finger, Absent middle phalanx of 5th finger |
OMIM:186100 |
Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Syndactyly Type 1 |
|
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly |
ORPHA:93402 |
Bullous Dystrophy, Hereditary Macular Type |
|
Severe short stature, Death in childhood, Acrocyanosis |
OMIM:302000 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Polydactyly, Abnormal cardiac septum morphology, Upper limb phocomelia, Syndactyly, Abnormal hear... |
ORPHA:294975 |
Intellectual Disability-Spasticity-Ectrodactyly Syndrome |
|
Abnormality of the upper limb, Finger syndactyly, Clinodactyly of the 5th finger, Bilateral singl... |
ORPHA:1891 |
Leptin Receptor Deficiency |
|
Decreased response to growth hormone stimulation test, Abnormal hypothalamus morphology, Diabetes... |
OMIM:614963 |
Joubert Syndrome 18 |
|
Postaxial polydactyly, Ventricular septal defect, Molar tooth sign on MRI, Arrhinencephaly, Talip... |
OMIM:614815 |
Hydrolethalus Syndrome 2 |
|
Molar tooth sign on MRI, Preaxial foot polydactyly, Anencephaly, Hydrocephalus, Postaxial foot po... |
OMIM:614120 |
Orofaciodigital Syndrome Xv |
|
Molar tooth sign on MRI, Broad hallux, Duplication of phalanx of hallux, Postaxial hand polydacty... |
OMIM:617127 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Hallux Varus And Preaxial Polysyndactyly |
|
Broad hallux, Syndactyly, Preaxial hand polydactyly, Hallux varus |
OMIM:234280 |
Meckel Syndrome, Type 4 |
|
Meningocele, Encephalocele, Ventricular septal defect, Molar tooth sign on MRI, Anencephaly, Hydr... |
OMIM:611134 |
Congenital Radioulnar Synostosis |
|
Polydactyly, Limited elbow movement, Abnormal morphology of the radius, Radioulnar synostosis, Ab... |
ORPHA:3269 |
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
Joubert Syndrome 36 |
|
Mesoaxial hand polydactyly, Molar tooth sign on MRI |
OMIM:618763 |
Syndactyly, Type Iv |
|
Triphalangeal thumb, 2-3 toe syndactyly, Polydactyly, Supernumerary metacarpal bones, 1-5 finger ... |
OMIM:186200 |
Joubert Syndrome 22 |
|
2-3 toe syndactyly, Molar tooth sign on MRI, Postaxial foot polydactyly, Postaxial hand polydacty... |
OMIM:615665 |
Slc35A2-Cdg |
|
Short tibia, Hip subluxation, Camptodactyly of finger, Precocious puberty, Elevated circulating t... |
ORPHA:356961 |
Meckel Syndrome, Type 10 |
|
Dilated fourth ventricle, Molar tooth sign on MRI, Cerebellar hypoplasia, Ulnar deviation of the ... |
OMIM:614175 |
Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
Joubert Syndrome 10 |
|
Molar tooth sign on MRI, Postaxial polydactyly, Cerebellar vermis hypoplasia |
OMIM:300804 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Postaxial hand polydactyly, Syndactyly, Hydrocephalus |
OMIM:615938 |
Syndactyly Type 5 |
|
Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Clinodactyly of the 5th f... |
ORPHA:93406 |
Anencephaly 1 |
|
Spina bifida, Anencephaly |
OMIM:206500 |
Wahab Syndrome |
|
Short foot, Short metacarpal, Clinodactyly, Camptodactyly, Adducted thumb, Syndactyly, Short thum... |
OMIM:615170 |
Joubert Syndrome 16 |
|
Polydactyly, Encephalocele, Molar tooth sign on MRI, Dandy-Walker malformation |
OMIM:614465 |
Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
Duplication Of The Pituitary Gland |
|
Encephalocele, Abnormal hypothalamus morphology, Abnormal midbrain morphology, Abnormality of the... |
ORPHA:314621 |
Camptosynpolydactyly, Complex |
|
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly |
OMIM:607539 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Hip dysplasia, Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis |
ORPHA:71289 |
Meckel Syndrome 13 |
|
Occipital encephalocele, Molar tooth sign on MRI, Cerebellar hypoplasia |
OMIM:617562 |
Joubert Syndrome 32 |
|
Molar tooth sign on MRI, Abnormal cerebellum morphology, Postaxial foot polydactyly, Hypertrophic... |
OMIM:617757 |
Polydactyly, Postaxial, Type A5 |
|
Postaxial hand polydactyly, Syndactyly, Metacarpal synostosis, Cutaneous finger syndactyly |
OMIM:263450 |
Neurodevelopmental Disorder With Seizures And Brain Atrophy |
|
Hypoplasia of the brainstem, Decreased thalamic volume, Rocker bottom foot, Cerebellar hypoplasia |
OMIM:619072 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Spina bifida, Anencephaly, Hypoplastic left heart, Ventricular septal defect |
ORPHA:2476 |
Crossed Polysyndactyly |
|
Postaxial hand polydactyly, Aplasia/Hypoplasia of the thumb, Finger syndactyly |
ORPHA:2935 |
Phosphoserine Aminotransferase Deficiency |
|
Cyanotic episode, Death in infancy |
OMIM:610992 |
Craniopharyngioma |
|
Enlarged pituitary gland, Increased circulating prolactin concentration, Hypogonadism, Neoplasm o... |
ORPHA:54595 |
Joubert Syndrome 30 |
|
Molar tooth sign on MRI, Postaxial hand polydactyly, Superior cerebellar dysplasia, Cerebellar at... |
OMIM:617622 |
Intellectual Developmental Disorder, Autosomal Recessive 33 |
|
Syndactyly, Short toe |
OMIM:614341 |
Split-Hand/Foot Malformation 4 |
|
Triphalangeal thumb, Aplasia/Hypoplasia involving the metacarpal bones, Aplasia/Hypoplasia of the... |
OMIM:605289 |
Syndactyly Type 3 |
|
Camptodactyly of finger, Short toe, Finger syndactyly |
ORPHA:93404 |
20Q11.2 Microdeletion Syndrome |
|
Camptodactyly, Adducted thumb, Brainstem dysplasia, Brachydactyly, Finger clinodactyly, Intrauter... |
ORPHA:444051 |
Joubert Syndrome 25 |
|
Molar tooth sign on MRI, Cerebellar hypoplasia |
OMIM:616781 |
Seizures, Benign Familial Infantile, 3 |
|
Cyanosis |
OMIM:607745 |
Joubert Syndrome 7 |
|
Genu valgum, Hypoplasia of the brainstem, Encephalocele, Molar tooth sign on MRI, Brainstem dyspl... |
OMIM:611560 |
Pituicytoma |
|
Increased circulating prolactin concentration, Decreased response to growth hormone stimulation t... |
ORPHA:251623 |
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
|
2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Toe syn... |
ORPHA:157801 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hydrocephalus, Hypoplasia of the pons, Midline brainstem cleft, Fusion of the left and right thal... |
OMIM:617542 |
Branchiootic Syndrome 3 |
|
Branchial cyst |
OMIM:608389 |
Frontal Encephalocele |
|
Spina bifida, Hydrocephalus, Encephalocele |
ORPHA:1931 |
Spinal Muscular Atrophy With Mental Retardation |
|
Syndactyly |
OMIM:271109 |
Bardet-Biedl Syndrome 5 |
|
Syndactyly, Polydactyly, Hypogonadism, Brachydactyly |
OMIM:615983 |
Acropectoral Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly |
ORPHA:85203 |
Acropectorovertebral Dysplasia |
|
Bifid distal phalanx of the thumb, Finger syndactyly, Capitate-hamate fusion, Toe syndactyly, Syn... |
OMIM:102510 |
Thyroid Hormone Metabolism, Abnormal, 1 |
|
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Increased circula... |
OMIM:609698 |
Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
Joubert Syndrome 20 |
|
Molar tooth sign on MRI, Postaxial polydactyly, 4-5 toe syndactyly |
OMIM:614970 |
Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula |
OMIM:609166 |
Orofaciodigital Syndrome Vi |
|
Preaxial hand polydactyly, Molar tooth sign on MRI, Toe syndactyly, Preaxial foot polydactyly, Ar... |
OMIM:277170 |
Heart-Hand Syndrome, Slovenian Type |
|
Clinodactyly, Dilated cardiomyopathy, Aplasia of the middle phalanx of the hand, Syndactyly, Brac... |
OMIM:610140 |
Al-Gazali-Bakalinova Syndrome |
|
Polydactyly, Genu valgum, Tapered finger, Molar tooth sign on MRI, Clinodactyly, Epiphyseal dyspl... |
OMIM:607131 |
Seizures, Benign Familial Infantile, 1 |
|
Cyanosis |
OMIM:601764 |
Greig Cephalopolysyndactyly Syndrome |
|
Umbilical hernia, Preaxial hand polydactyly, Finger syndactyly, Toe syndactyly, Preaxial foot pol... |
ORPHA:380 |
Split-Hand/Foot Malformation 1 |
|
Triphalangeal thumb, Foot oligodactyly, Clinodactyly, Broad hallux, Syndactyly, Hand oligodactyly... |
OMIM:183600 |
X-Linked Mandibulofacial Dysostosis |
|
Pulmonic stenosis, Webbed neck, Branchial anomaly, Abnormal mitral valve morphology |
ORPHA:1131 |
Gómez-López-Hernández Syndrome |
|
Hydrocephalus, Abnormal cerebellum morphology, Abnormal brainstem morphology, Cerebellar vermis h... |
ORPHA:1532 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Atrioventricular canal defect, Supernumerary nipple, Dextrocardia, Cryptorchidism, Interhypothala... |
OMIM:618929 |
Pallister-Hall-Like Syndrome |
|
Anterior hypopituitarism, Toe syndactyly, Hydrocephalus, Hip dislocation, Postaxial foot polydact... |
OMIM:241800 |
Joubert Syndrome 33 |
|
Syndactyly, Molar tooth sign on MRI |
OMIM:617767 |
Syndactyly Type 4 |
|
Triphalangeal thumb, Camptodactyly of finger, Short tibia, Foot polydactyly, Toe syndactyly, Hand... |
ORPHA:93405 |
Liebenberg Syndrome |
|
Abnormal carpal morphology, 2-3 finger syndactyly, Elbow flexion contracture, Radially deviated w... |
OMIM:186550 |
Joubert Syndrome 4 |
|
Thickened superior cerebellar peduncle, Molar tooth sign on MRI, Elongated superior cerebellar pe... |
OMIM:609583 |
Chromosome 2Q35 Duplication Syndrome |
|
2-3 toe syndactyly, 3-4 finger syndactyly, Distal symphalangism of hands, Cutaneous syndactyly |
OMIM:185900 |
Congenital Pulmonary Lymphangiectasia |
|
Cyanosis, Hydrops fetalis, Chylopericardium, Pleural effusion, Growth delay, Ascites |
ORPHA:2414 |
Polydactyly, Postaxial, Type A1 |
|
Triphalangeal thumb, Syndactyly, Broad thumb, Preaxial polydactyly, Postaxial hand polydactyly |
OMIM:174200 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Camptodactyly of finger, Adducted thumb, Hydranencephaly, H... |
ORPHA:2570 |
Dystonia 30 |
|
Hypothalamic hamartoma |
OMIM:619291 |
Ectrodactyly-Polydactyly Syndrome |
|
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Ab... |
ORPHA:1892 |
Perching Syndrome |
|
Cyanosis |
OMIM:617055 |
Brachydactyly-Syndactyly Syndrome |
|
Short phalanx of finger, Finger syndactyly, Short digit, Camptodactyly, Oligodactyly, Syndactyly,... |
OMIM:610713 |
Amoebiasis Due To Free-Living Amoebae |
|
Abnormal cerebellum morphology, Abnormal brainstem MRI signal intensity, Abnormal hypothalamus mo... |
ORPHA:68 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Clinodactyly of the 5th finger, Abnormality of the elbow, Radioulnar synostosis, Finger syndactyly |
ORPHA:3268 |
Joubert Syndrome 40 |
|
Molar tooth sign on MRI, Postaxial polydactyly |
OMIM:619582 |
Syndactyly, Type V |
|
Camptodactyly of finger, Joint contracture of the hand, Cutaneous finger syndactyly, Carpal synos... |
OMIM:186300 |
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Male hypogonadism, Syndactyly, 2-4 toe syndactyly |
OMIM:241000 |
Neuralgic Amyotrophy |
|
Acrocyanosis, Short stature |
ORPHA:2901 |
15Q11Q13 Microduplication Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly |
ORPHA:238446 |
Coach Syndrome 2 |
|
Hydrocephalus, Molar tooth sign on MRI, Agenesis of corpus callosum, Cerebellar vermis hypoplasia |
OMIM:619111 |
Santos Syndrome |
|
Polydactyly, Genu valgum, Talipes equinovarus, Oligodactyly, Metatarsus adductus, Syndactyly, Pre... |
OMIM:613005 |
Joubert Syndrome 39 |
|
Molar tooth sign on MRI, Hypoplastic left heart, Joint contracture of the 5th finger, Occipital e... |
OMIM:619562 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
2-3 toe syndactyly, Hypoplasia of the brainstem, Cerebellar hypoplasia, Clinodactyly of the 5th f... |
OMIM:236500 |
Acalvaria |
|
Spina bifida, Holoprosencephaly, Hydrocephalus |
ORPHA:945 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Spina bifida, Mitral valve prolapse |
OMIM:211960 |
Polydactyly, Preaxial Iv |
|
1-5 toe syndactyly, Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, ... |
OMIM:174700 |
Wildervanck Syndrome |
|
Meningocele, Short neck, Webbed neck, Low posterior hairline |
ORPHA:3456 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Carpenter Syndrome |
|
Patent ductus arteriosus, Polydactyly, Genu valgum, Finger syndactyly, Toe syndactyly, Preaxial f... |
ORPHA:65759 |
Split-Hand/Foot Malformation 6 |
|
Finger syndactyly, Foot oligodactyly, Toe syndactyly, Hand oligodactyly, Split foot, Split hand |
OMIM:225300 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Fusion of the cerebellar hemispheres, Dilated fourth ventricle, Hypoplasia of the brainstem, Abno... |
ORPHA:370959 |
Hemihyperplasia, Isolated |
|
Myelomeningocele |
OMIM:235000 |
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome |
|
Joint contracture of the hand, 2-3 finger syndactyly, 2-4 finger syndactyly, Camptodactyly, 1-4 f... |
OMIM:225280 |
Tubulinopathy-Associated Dysgyria |
|
Hypoplasia of the pons, Abnormality of thalamus morphology, Abnormal brainstem morphology, Cerebe... |
ORPHA:467166 |
Branchiootic Syndrome 1 |
|
Branchial fistula |
OMIM:602588 |
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Syndactyly, Aplasia/Hypoplasia of toe, Cutaneous finger syndactyly, Duplication of metatarsal bones |
OMIM:600384 |
Greig Cephalopolysyndactyly Syndrome |
|
Preaxial hand polydactyly, Joint contracture of the hand, Preaxial foot polydactyly, Hydrocephalu... |
OMIM:175700 |
Neural Tube Defects, Susceptibility To |
|
Spina bifida occulta, Anencephaly, Hydrocephalus, Myelomeningocele |
OMIM:182940 |
Joubert Syndrome 14 |
|
Meningocele, Hypoplasia of the brainstem, Encephalocele, Ventricular septal defect, Molar tooth s... |
OMIM:614424 |
Joubert Syndrome 17 |
|
3-4 finger syndactyly, Preaxial polydactyly, Molar tooth sign on MRI, Postaxial polydactyly |
OMIM:614615 |
Brachydactyly Type B |
|
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Short metacarpal, Synostosi... |
ORPHA:93383 |
Joubert Syndrome 15 |
|
Polydactyly, Molar tooth sign on MRI |
OMIM:614464 |
Thoraco-Abdominal Enteric Duplication |
|
Meningocele, Dextrocardia, Abnormal tricuspid valve morphology |
ORPHA:1759 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Decreased circulating free T3, Increased circulating T4 concentration, Elevated circulating thyro... |
ORPHA:171706 |
Joubert Syndrome 3 |
|
Molar tooth sign on MRI, Lateral ventricle dilatation, Elongated superior cerebellar peduncle, At... |
OMIM:608629 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Toe syndactyly, Aplasia/hypoplasia of the femur, Postaxial hand polydactyly, Talipes equinovarus,... |
OMIM:228930 |
Cyanosis, Transient Neonatal |
|
Cyanosis, Jaundice |
OMIM:613977 |
Joubert Syndrome With Ocular Defect |
|
Encephalocele, Molar tooth sign on MRI, Foot polydactyly, Hydrocephalus, Hand polydactyly, Dextro... |
ORPHA:220493 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Meningocele, Dilated third ventricle, Lateral ventricle dilatation, Supernumerary nipple, Early o... |
ORPHA:397715 |
Ritscher-Schinzel Syndrome 2 |
|
Patent ductus arteriosus, Ventricular septal defect, Cerebellar hypoplasia, Clinodactyly, Camptod... |
OMIM:300963 |
Orofaciodigital Syndrome Type 6 |
|
Molar tooth sign on MRI, Foot polydactyly, Bilateral cryptorchidism, Mesoaxial polydactyly, Hand ... |
ORPHA:2754 |
Brachydactyly, Type B1 |
|
Ventricular septal defect, Joint contracture of the hand, Short long bone, Cutaneous finger synda... |
OMIM:113000 |
Ritscher-Schinzel Syndrome 1 |
|
Double outlet right ventricle, Decreased response to growth hormone stimulation test, Ventricular... |
OMIM:220210 |
Apnea, Central Sleep |
|
Cyanosis |
OMIM:207720 |
Brachydactyly Type B2 |
|
Short toe, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Synostosis of ca... |
ORPHA:140908 |
Boomerang Dysplasia |
|
Aplasia/Hypoplasia of the fibula, Decreased response to growth hormone stimulation test, Finger s... |
ORPHA:1263 |
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction |
|
Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia of the middle phalanx of the 5th finger, Prox... |
OMIM:609432 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Hypothalamic atrophy, Abnormal substantia nigra morphology, Lateral ventricle dilatation |
ORPHA:2822 |
Joubert Syndrome 27 |
|
Polydactyly, Molar tooth sign on MRI |
OMIM:617120 |
Joubert Syndrome 6 |
|
Dilated fourth ventricle, Hypoplasia of the brainstem, Molar tooth sign on MRI, Elongated superio... |
OMIM:610688 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Gordon Syndrome |
|
Camptodactyly of finger, Clinodactyly of the 5th finger, Finger syndactyly, Cryptorchidism |
ORPHA:376 |
Central Precocious Puberty |
|
Isosexual precocious puberty, Premature thelarche, Hydrocephalus, Increased circulating gonadotro... |
ORPHA:759 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Dilated fourth ventricle, Hypoplasia of the brainstem, Ventricular septal defect, Molar tooth sig... |
OMIM:619306 |
Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
Isolated Klippel-Feil Syndrome |
|
Webbed neck, Ventricular septal defect, Spina bifida, Short neck, Low posterior hairline, Congeni... |
ORPHA:2345 |
Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Molar tooth sign on MRI, Foot polydactyly, Hydrocephalus, Hand polydactyly, Abnorm... |
ORPHA:2318 |
Joubert Syndrome 38 |
|
Decreased response to growth hormone stimulation test, Molar tooth sign on MRI, Inferior cerebell... |
OMIM:619476 |
Tricuspid Atresia |
|
Cyanosis, Pulmonary artery atresia, Coarctation of aorta |
ORPHA:1209 |
Ravine Syndrome |
|
Atrophy/Degeneration affecting the brainstem, Abnormal brainstem morphology |
ORPHA:99852 |
Gangliocytoma |
|
Adrenocorticotropic hormone excess, Abnormal cerebellum morphology, Abnormal brainstem morphology... |
ORPHA:251937 |
Joubert Syndrome With Renal Defect |
|
Encephalocele, Molar tooth sign on MRI, Hydrocephalus, Hand polydactyly, Abnormality of the hypot... |
ORPHA:220497 |
Split-Hand/Foot Malformation 2 |
|
Short phalanx of finger, Finger syndactyly, Short metacarpal, Split foot, Split hand |
OMIM:313350 |
Branchiogenic Deafness Syndrome |
|
Branchial cyst, Branchial fistula |
ORPHA:50815 |
Brachydactyly, Type B2 |
|
Absent phalangeal crease, Proximal symphalangism of hands, Aplasia/Hypoplasia of the middle phala... |
OMIM:611377 |
Proximal Symphalangism |
|
Camptodactyly of finger, Metacarpophalangeal synostosis, Finger syndactyly, Elbow ankylosis, Syno... |
ORPHA:3250 |
Isolated Hemihyperplasia |
|
Myelomeningocele |
ORPHA:2128 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Patent ductus arteriosus, Short tibia, Encephalocele, Molar tooth sign on MRI, Natal tooth, Cereb... |
OMIM:616300 |
Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
Joubert Syndrome 35 |
|
Single transverse palmar crease, Molar tooth sign on MRI, Elongated superior cerebellar peduncle,... |
OMIM:618161 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Cyanosis |
ORPHA:91130 |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Branchial cyst |
ORPHA:435938 |
Rhombencephalosynapsis |
|
Fusion of the cerebellar hemispheres, Short phalanx of finger, Abnormal dentate nucleus morpholog... |
ORPHA:59315 |
Joubert Syndrome 2 |
|
Hypoplasia of the brainstem, Encephalocele, Molar tooth sign on MRI, Elongated superior cerebella... |
OMIM:608091 |
Pituitary Carcinoma |
|
Pituitary thyrotropic cell adenoma, Enlarged pituitary gland, Increased circulating prolactin con... |
ORPHA:300385 |
Joubert Syndrome 9 |
|
Encephalocele, Molar tooth sign on MRI |
OMIM:612285 |
Joubert Syndrome 37 |
|
Molar tooth sign on MRI, Decreased testicular size, Cryptorchidism, Postaxial polydactyly, Cerebe... |
OMIM:619185 |
Acropectorovertebral Dysplasia |
|
Camptodactyly of finger, Triphalangeal thumb, Finger syndactyly, Spina bifida, Synostosis of carp... |
ORPHA:957 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Abnormality of the anterior pituitary, Ventricular septal defect, Cerebellar hypoplasia, Posterio... |
ORPHA:75389 |
Moebius Syndrome |
|
Short phalanx of finger, Hand clenching, Hypoplasia of the brainstem, Aplasia/Hypoplasia involvin... |
OMIM:157900 |
Alexander Disease Type I |
|
Cerebellar atrophy, Abnormal thalamic MRI signal intensity, Hydrocephalus |
ORPHA:363717 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Cyanosis |
ORPHA:71277 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Abnormality of the upper limb, Aplasia/Hypoplasia of the fibula, Finger syndactyly, Clinodactyly ... |
ORPHA:2141 |
Holt-Oram Syndrome |
|
Absent thumb, Abnormal carpal morphology, Secundum atrial septal defect, Phocomelia, Limited elbo... |
OMIM:142900 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Short toe, Bifid distal phalanx of the thumb, Curved distal phalanx of the thumb, Triangular shap... |
ORPHA:370010 |
Giant Axonal Neuropathy |
|
Genu valgum, Abnormal hand morphology, Abnormal cerebellum morphology, Abnormality of the pituita... |
ORPHA:643 |
Bardet-Biedl Syndrome 4 |
|
Polydactyly, Hypogonadism, Syndactyly, Cryptorchidism, Brachydactyly |
OMIM:615982 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Aplastic clavicle, Molar tooth sign on MRI, Anencephaly, Hydrocephalus, Atrial septal defect, Pre... |
OMIM:616546 |
Subependymal Nodular Heterotopia |
|
Meningocele, Occipital encephalocele, Nasofrontal encephalocele, Myelomeningocele |
ORPHA:101030 |
Filippi Syndrome |
|
Ventricular septal defect, Cutaneous syndactyly, Single transverse palmar crease, Cryptorchidism,... |
OMIM:272440 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Agenesis of corpus callosum, Abnormal cerebellum morphology, Abnormal brainstem morphology |
ORPHA:255182 |
Joubert Syndrome 31 |
|
Molar tooth sign on MRI |
OMIM:617761 |
Aminopterin Syndrome Sine Aminopterin |
|
Arachnodactyly, Joint contracture of the hand, Clinodactyly, Brachydactyly, Syndactyly, Cryptorch... |
OMIM:600325 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Aplasia/Hypoplasia of the cerebellum, Abnormal brainstem morphology, Hydrocephalus, Arachnodactyl... |
ORPHA:2720 |
Holoprosencephaly 5 |
|
Syntelencephaly, Lateral ventricle dilatation, Hydrocephalus, Semilobar holoprosencephaly, Lobar ... |
OMIM:609637 |
Fryns Microphthalmia Syndrome |
|
Neural tube defect |
OMIM:600776 |
Aminopterin/Methotrexate Embryofetopathy |
|
Meningocele, Spinal dysraphism, Encephalocele, Ventricular septal defect, Anencephaly, Hydrocepha... |
ORPHA:1908 |
Cerebellofaciodental Syndrome |
|
Genu valgum, Tapered finger, Ventricular septal defect, Cerebellar hypoplasia, Slender long bone,... |
OMIM:616202 |
Holt-Oram Syndrome |
|
Patent ductus arteriosus, Atrioventricular canal defect, Absent thumb, Triphalangeal thumb, Ventr... |
ORPHA:392 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Atrioventricular canal defect, Branchial anomaly, Ventricular septal defect, Bicuspid aortic valv... |
ORPHA:453499 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Dilated fourth ventricle, Cerebellar dysplasia, Elongated superior cerebellar peduncle, Abnormal ... |
ORPHA:370022 |
Craniorachischisis |
|
Spinal dysraphism, Myelomeningocele, Anencephaly, Sirenomelia, Cervical spina bifida |
ORPHA:63260 |
Periventricular Nodular Heterotopia 1 |
|
Patent ductus arteriosus, Cerebellar hypoplasia, Bicuspid aortic valve, Clinodactyly, Short finge... |
OMIM:300049 |
3P25.3 Microdeletion Syndrome |
|
Patent ductus arteriosus, Abnormality of thalamus morphology, Ventricular septal defect, Tapered ... |
ORPHA:435638 |
Alkuraya-Kucinskas Syndrome |
|
Kinked brainstem, Hand clenching, Hypoplasia of the brainstem, Cerebellar dysplasia, Cerebellar h... |
OMIM:617822 |
Femur-Fibula-Ulna Complex |
|
Abnormality of the elbow, Finger syndactyly, Humeroradial synostosis, Abnormal morphology of ulna... |
ORPHA:2019 |
Cach Syndrome |
|
Cerebellar vermis atrophy, Lateral ventricle dilatation, T2 hypointense thalamus, Cerebellar atro... |
ORPHA:135 |
Cerebellar-Facial-Dental Syndrome |
|
Hypoplasia of the brainstem, Tapered finger, Ventricular septal defect, Cerebellar hypoplasia, Sl... |
ORPHA:444072 |
Polymicrogyria Due To Tubb2B Mutation |
|
Abnormal brainstem morphology, Lateral ventricle dilatation, Hypoplasia of the pons, Cerebellar a... |
ORPHA:300573 |
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet |
|
Syndactyly, Split foot, Short finger, Hypoplasia of the ulna |
OMIM:314360 |
Nevus Comedonicus Syndrome |
|
Spina bifida, Spina bifida occulta |
ORPHA:64754 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Molar tooth sign on MRI, Lateral ventricle dilatation, Dysgenesis of the cerebellar vermis, Short... |
OMIM:619479 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Decreased circu... |
OMIM:301033 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Finger syndactyly, Aqueductal stenosis, Arrhinencephaly, Radioulnar synostosis, Abnormal pelvic g... |
ORPHA:1788 |
Joubert Syndrome 1 |
|
Hypoplasia of the brainstem, Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Dys... |
OMIM:213300 |
Pfeiffer Syndrome Type 1 |
|
Aplasia/Hypoplasia of the thumb, Aqueductal stenosis, Short foot, Finger syndactyly, Toe syndacty... |
ORPHA:93258 |
Meckel Syndrome, Type 2 |
|
Meningocele, Encephalocele, Anencephaly, Intrauterine growth retardation, Cystic hygroma |
OMIM:603194 |
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
|
Thalamic calcification, Cerebellar calcifications |
OMIM:618824 |
Schisis Association |
|
Spina bifida, Anencephaly, Encephalocele |
ORPHA:63862 |
Branchiootic Syndrome |
|
Branchial fistula |
ORPHA:52429 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Cyanotic episode, Short neck, Thickened nuchal skin fold, Intrauterine growth retardation |
ORPHA:284417 |
47,Xyy Syndrome |
|
Macroorchidism, Cerebellar dysplasia, Increased serum testosterone level, Abnormal brainstem morp... |
ORPHA:8 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Patent foramen ovale, Restrictive cardiomyopathy, Clinodactyly, Camptodactyly, Osteolysis involvi... |
ORPHA:88630 |
Adult Krabbe Disease |
|
Abnormal pons morphology, Abnormal midbrain morphology, Abnormal medulla oblongata morphology |
ORPHA:206448 |
Aplasia Cutis Congenita |
|
Toe syndactyly, Spinal dysraphism, Finger syndactyly |
ORPHA:1114 |
Ring Chromosome 21 Syndrome |
|
Diabetes insipidus, Small hand, Clinodactyly, Syndactyly, Holoprosencephaly, Narrow palm, Abnorma... |
ORPHA:1445 |
Laurin-Sandrow Syndrome |
|
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Limb duplication... |
ORPHA:2378 |
Pallister-Hall Syndrome |
|
Precocious puberty, Short 4th metacarpal, Toe syndactyly, Decreased circulating cortisol level, H... |
OMIM:146510 |
Joubert Syndrome 28 |
|
Molar tooth sign on MRI |
OMIM:617121 |
Diaphanospondylodysostosis |
|
Short neck, Myelomeningocele |
ORPHA:66637 |
Fibular Hemimelia |
|
Short tibia, Hip subluxation, Hypoplastic acetabulae, Toe syndactyly, Short femur, Ectrodactyly, ... |
ORPHA:93323 |
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 |
|
Decreased thalamic volume |
OMIM:618646 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Cyanosis, Webbed neck, Truncus arteriosus, Death in infancy, Interrupted aortic arch, Right aorti... |
OMIM:617478 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Genu valgum, Hypoplasia of the brainstem, Abnormality of thalamus morphology, Normal pressure hyd... |
ORPHA:300570 |
Coach Syndrome 1 |
|
Encephalocele, Molar tooth sign on MRI, Aplasia/Hypoplasia of the cerebellar vermis, Postaxial ha... |
OMIM:216360 |
Meckel Syndrome, Type 1 |
|
Camptodactyly of finger, Chiari malformation, Abnormal cardiac septum morphology, Radial deviatio... |
OMIM:249000 |
Sclerosteosis |
|
2-3 finger syndactyly, Curved distal phalanges of the hand, Diaphyseal thickening, Finger syndactyly |
ORPHA:3152 |
Panhypophysitis |
|
Increased circulating prolactin concentration, Abnormal size of pituitary gland, Gonadotropin def... |
ORPHA:95513 |
Oculoskeletodental Syndrome |
|
Short 5th finger, Abnormality of thalamus morphology, Clinodactyly, Hypoplasia of the capital fem... |
ORPHA:557003 |
Timothy Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Hypothyroidism, Ventricular septal defect, Syndac... |
OMIM:601005 |
Bor Syndrome |
|
Branchial cyst |
ORPHA:107 |
Benign Familial Infantile Epilepsy |
|
Cyanosis |
ORPHA:306 |
Monosomy 5P |
|
Finger syndactyly, Intrauterine growth retardation, Small hand |
ORPHA:281 |
Terminal Osseous Dysplasia |
|
Camptodactyly of finger, Short toe, Clinodactyly, Camptodactyly of toe, Syndactyly, Toe clinodact... |
OMIM:300244 |
Humero-Radial Synostosis |
|
Meningocele |
ORPHA:3265 |
X-Linked Acrogigantism |
|
Enlarged pituitary gland, Diabetes insipidus, Increased circulating prolactin concentration, Hypo... |
ORPHA:300373 |
Chiari Malformation Type Ii |
|
Spina bifida, Hydrocephalus, Myelomeningocele, Cervical myelopathy |
OMIM:207950 |
Caudal Duplication |
|
Spina bifida, Myelomeningocele |
ORPHA:1756 |
Non-Functioning Pituitary Adenoma |
|
Anterior hypopituitarism, Adrenal insufficiency, Increased circulating gonadotropin level, Second... |
ORPHA:91349 |
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome |
|
Finger syndactyly, Abnormality of the wrist, Abnormal thumb morphology, Delayed puberty, Proximal... |
ORPHA:1825 |
Japanese Encephalitis |
|
Distal upper limb muscle weakness, Abnormal substantia nigra morphology, Abnormality of thalamus ... |
ORPHA:79139 |
Coach Syndrome 3 |
|
Molar tooth sign on MRI |
OMIM:619113 |
Pfeiffer Syndrome Type 2 |
|
Chiari malformation, Aqueductal stenosis, Finger syndactyly, Toe syndactyly, Small hand, Hydrocep... |
ORPHA:93259 |
Summitt Syndrome |
|
Syndactyly |
OMIM:272350 |
Mesomelic Dysplasia, Nievergelt Type |
|
Camptodactyly of finger, Genu varum, Genu valgum, Finger syndactyly, Abnormality of the wrist, Ra... |
ORPHA:2633 |
6P22 Microdeletion Syndrome |
|
Patent ductus arteriosus, Hydrocephalus, Finger syndactyly, Clinodactyly |
ORPHA:251046 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Increased circulating prolactin concentration, Precocious puberty, Decreased response to growth h... |
ORPHA:91354 |
Cleft-Limb-Heart Malformation Syndrome |
|
Syndactyly, Truncus arteriosus |
OMIM:215850 |
Summitt Syndrome |
|
Camptodactyly of finger, Genu valgum, Short 4th metacarpal, Finger syndactyly, Clinodactyly of th... |
ORPHA:3210 |
Eosinophilic Fasciitis |
|
Edema, Muscular edema, Acrocyanosis |
ORPHA:3165 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the tibia, Preaxial hand polydactyly, Finger syndactyly, Patellar aplasia, ... |
ORPHA:3329 |
Familial Acute Necrotizing Encephalopathy |
|
Abnormal brainstem MRI signal intensity, Abnormality of thalamus morphology, Abnormal brainstem m... |
ORPHA:88619 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Abnormal brainstem morphology, Hydrocephalus, Agenesis of cerebellar vermis, Dandy-Walker malform... |
ORPHA:163961 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Patent ductus arteriosus, Atrioventricular canal defect, Spina bifida, Bicuspid aortic valve, Abn... |
ORPHA:1120 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Abnormal brainstem MRI signal intensity, Left ventricular hypertrophy, Hypertrophic cardiomyopath... |
ORPHA:444013 |
Infant Acute Respiratory Distress Syndrome |
|
Cyanosis, Hypoxemia, Pulmonary edema |
ORPHA:70587 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
2-3 toe syndactyly, Abnormality of thalamus morphology, Ventricular septal defect, Postaxial foot... |
ORPHA:404440 |
Pontocerebellar Hypoplasia Type 10 |
|
Abnormal brainstem morphology |
ORPHA:411493 |
Charlie M Syndrome |
|
Triphalangeal thumb, Finger syndactyly, Abnormal metacarpal morphology, Split hand, Brachydactyly |
ORPHA:1406 |
Fatco Syndrome |
|
Finger syndactyly, Tarsal synostosis, Abnormality of tibia morphology, Split hand, Abnormality of... |
ORPHA:2492 |
Muscle-Eye-Brain Disease |
|
Meningocele, Holoprosencephaly, Hydrocephalus |
ORPHA:588 |
Holoprosencephaly |
|
Spinal dysraphism, Encephalocele, Branchial anomaly, Ventricular septal defect, Hydrocephalus, Ho... |
ORPHA:2162 |
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Camptodactyly of finger, Triphalangeal thumb, Finger syndactyly, Short thumb, Palmoplantar kerato... |
ORPHA:2251 |
Branchiootorenal Syndrome 1 |
|
Branchial cyst, Branchial fistula |
OMIM:113650 |
Restrictive Dermopathy 2 |
|
Cyanosis, Intrauterine growth retardation |
OMIM:619793 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Syndactyly, Clinodactyly, Brachydactyly |
OMIM:610023 |
Czeizel-Losonci Syndrome |
|
Myelomeningocele, Spina bifida, 2-3 finger syndactyly, Hydrocephalus, Clubbing of toes, Spina bif... |
ORPHA:2437 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Focal T2 hyperintense thalamic lesion, Intrauterine growth retardation |
OMIM:619057 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Syndactyly, Polydactyly, Hydrocephalus, Ventricular septal defect |
OMIM:602501 |
Craniosynostosis, Philadelphia Type |
|
Finger syndactyly |
ORPHA:1527 |
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Syndactyly, Tapered finger, Clinodactyly of the 5th finger |
OMIM:618725 |
Adenohypophysitis |
|
Increased circulating prolactin concentration, Abnormal size of pituitary gland, Gonadotropin def... |
ORPHA:95512 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Patent ductus arteriosus, Cyanosis, Interrupted aortic arch, Hypoxemia, Abnormal aortic arch morp... |
ORPHA:860 |
Isolated Osteopoikilosis |
|
Tarsal sclerosis, Abnormal long bone morphology, Abnormal pelvis bone ossification, Abnormal pelv... |
ORPHA:166119 |
Grange Syndrome |
|
Patent ductus arteriosus, Syndactyly, Short palm, Ventricular septal defect |
ORPHA:79094 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Cyanosis, Growth delay |
OMIM:250800 |
Tibial Hemimelia |
|
Short tibia, Polydactyly, Coxa valga, Hip dislocation, Metatarsus adductus, Aplasia of the 2nd me... |
ORPHA:93322 |
Hereditary Methemoglobinemia |
|
Cyanosis |
ORPHA:621 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Abnormality of thalamus morphology, Hypergonadotropic hypogonadism |
OMIM:613724 |
Hypothyroidism, Central, With Testicular Enlargement |
|
Inappropriately normal thyroid-stimulating hormone level, Hypothyroidism, Reduced TSH response to... |
OMIM:300888 |
Primary Pulmonary Hypoplasia |
|
Cyanosis, Hypoxemia, Intrauterine growth retardation, Abnormal pulmonary artery morphology |
ORPHA:2257 |
Idiopathic Congenital Hypothyroidism |
|
Increased radioactive iodine uptake, Elevated circulating thyroid-stimulating hormone concentrati... |
ORPHA:95717 |
Pfeiffer Syndrome |
|
Short middle phalanx of toe, Chiari malformation, Humeroradial synostosis, Finger syndactyly, Elb... |
OMIM:101600 |
Weaver Syndrome |
|
Camptodactyly of finger, Finger syndactyly, Broad thumb, Sandal gap, Cryptorchidism, Abnormal met... |
ORPHA:3447 |
Poland Syndrome |
|
Unilateral oligodactyly, Unilateral brachydactyly, Hypoplasia of deltoid muscle, Syndactyly, Dext... |
OMIM:173800 |
Functioning Gonadotropic Adenoma |
|
Isosexual precocious puberty, Decreased response to growth hormone stimulation test, Enlarged pol... |
ORPHA:91348 |
Buerger Disease |
|
Acrocyanosis |
ORPHA:36258 |
Acute Interstitial Pneumonia |
|
Cyanosis, Pericardial effusion, Hypoxemia, Pleural effusion, Peripheral edema |
ORPHA:79126 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Patent ductus arteriosus, Patent foramen ovale, Double outlet right ventricle, Ventricular septal... |
OMIM:618316 |
Aprosencephaly And Cerebellar Dysgenesis |
|
Cerebellar dysplasia, Aprosencephaly, Poorly formed metencephalon, Absent mesencephalon, Talipes ... |
OMIM:601374 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Elevated circulating thyroid-stimulating hormone concentration, Type II diabetes mellitus, Increa... |
OMIM:274300 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Mitten deformity, Natal tooth, Clinodactyly of the 5th finger, Syndactyly, Widely spaced toes, Ta... |
OMIM:609638 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Syndactyly, Cardiomegaly, Palmoplantar keratoderma |
OMIM:613576 |
Double Outlet Right Ventricle |
|
Cyanosis, Truncus arteriosus, Short stature, Coarctation of aorta, Pulmonary artery atresia |
ORPHA:3426 |
Growth Hormone Deficiency, Isolated Partial |
|
Small pituitary gland, Decreased response to growth hormone stimulation test |
OMIM:615925 |
Laryngeal Abductor Paralysis |
|
Cyanosis |
OMIM:150260 |
Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Radial club hand, Holoprosencephaly, Abnormality of the diencephalon, Abnormal morphology of the ... |
ORPHA:2165 |
Coasy Protein-Associated Neurodegeneration |
|
Abnormality of thalamus morphology |
ORPHA:397725 |
Oligomeganephronia |
|
Branchial cyst, Secundum atrial septal defect |
ORPHA:2260 |
Sirenomelia |
|
Spina bifida, Sirenomelia |
ORPHA:3169 |
Obesity-Hypoventilation Syndrome |
|
Cyanosis |
OMIM:257500 |
Hypomelanosis Of Ito |
|
Syndactyly, Radial deviation of finger, Hand polydactyly, Clinodactyly |
OMIM:300337 |
Asbestos Intoxication |
|
Cyanosis, Edema, Hypoxemia, Oxygen desaturation on exertion |
ORPHA:2302 |
Aarskog-Scott Syndrome |
|
Short 5th finger, Short foot, Hyperextensibility of the finger joints, Bilateral cryptorchidism, ... |
OMIM:305400 |
Lennox-Gastaut Syndrome |
|
Abnormal brainstem morphology |
ORPHA:2382 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Abnormal cardiac septum morphology, Epiphyseal stippling, Thyroid hypoplasia, 2-5 finger syndacty... |
OMIM:308050 |
Familial Thyroid Dyshormonogenesis |
|
Increased radioactive iodine uptake, Elevated circulating thyroid-stimulating hormone concentrati... |
ORPHA:95716 |
Polysyndactyly With Cardiac Malformation |
|
Preaxial hand polydactyly, Ventricular septal defect, Atrial septal defect, Duplication of phalan... |
OMIM:263630 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Patent ductus arteriosus, Cyanosis, Overriding aorta |
ORPHA:3304 |
Orofaciodigital Syndrome Type 14 |
|
Patent ductus arteriosus, Dilated fourth ventricle, Dilated third ventricle, Deviation of the hal... |
ORPHA:434179 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Short phalanx of finger, Delayed eruption of teeth, Epiphyseal stippling, Dislocated radial head,... |
OMIM:101800 |
Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Acrocyanosis |
ORPHA:2400 |
Orofaciodigital Syndrome Xvi |
|
Postaxial hand polydactyly, Molar tooth sign on MRI, Postaxial foot polydactyly |
OMIM:617563 |
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Camptodactyly of finger, Hypothyroidism, Triphalangeal thumb, Finger syndactyly, Delayed puberty,... |
ORPHA:2994 |
Limb-Mammary Syndrome |
|
Hallux valgus, Joint contracture of the hand, Camptodactyly, Syndactyly, Split foot, Split hand, ... |
OMIM:603543 |
Bohring-Opitz Syndrome |
|
Short toe, Hypoplasia of the brainstem, Tapered finger, Ventricular septal defect, Ulnar deviatio... |
OMIM:605039 |
Laurin-Sandrow Syndrome |
|
Triphalangeal thumb, Patellar aplasia, Absent tibia, Hand polydactyly, Syndactyly, Absent radius,... |
OMIM:135750 |
Triploidy |
|
Meningocele, Abnormal cardiac septum morphology, Hydrocephalus, Holoprosencephaly, Short neck, In... |
ORPHA:3376 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Short metacarpal, Clinodactyly, Radioulnar synostosis, Carpal synostosis, Syndactyly, Brachydacty... |
OMIM:605282 |
3C Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Atrioventricular canal defect, Ventricular septal defect, A... |
ORPHA:7 |
Endocrine-Cerebroosteodysplasia |
|
Aplasia/Hypoplasia of the cerebellum, Natal tooth, Ulnar deviation of the hand, Fibular bowing, T... |
OMIM:612651 |
Posterior Meningocele |
|
Meningocele, Neural tube defect, Occipital meningocele, Hydrocephalus, Limitation of neck motion,... |
ORPHA:268810 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Short tibia, Foot oligodactyly, Hand oligodactyly, Syndactyly, Abnormality of the hand, Fibular a... |
OMIM:246570 |
Camptobrachydactyly |
|
Camptodactyly of finger, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Ulna... |
ORPHA:1319 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Aplasia/Hypoplasia of the fibula, Ventricular septal defect, Finger syndactyly, Short long bone, ... |
ORPHA:2256 |
Hypothyroidism, Congenital, Nongoitrous, 4 |
|
Decreased thyroid-stimulating hormone level, Hypothyroidism, Decreased circulating T4 concentrati... |
OMIM:275100 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Branchial anomaly, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Abnorm... |
ORPHA:453504 |
Thrombocytopenia-Absent Radius Syndrome |
|
Genu varum, Coxa valga, Finger syndactyly, Abnormal cardiac septum morphology, Tibial torsion, Hi... |
ORPHA:3320 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Branchial anomaly, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Abnorm... |
ORPHA:352665 |
Acrootoocular Syndrome |
|
Decreased palmar creases, Short toe, Decreased response to growth hormone stimulation test, Short... |
ORPHA:2980 |
Pelvis-Shoulder Dysplasia |
|
Camptodactyly of finger, Aplasia/Hypoplasia of the fibula, Hypoplastic pubic bone, Spina bifida, ... |
ORPHA:2839 |
Laurence-Moon Syndrome |
|
Finger syndactyly, Type II diabetes mellitus, Hand polydactyly, Brachydactyly, Cryptorchidism, Bi... |
ORPHA:2377 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Cyanosis |
OMIM:263000 |
Silver-Russell Syndrome 1 |
|
Decreased response to growth hormone stimulation test, Short middle phalanx of the 5th finger, Te... |
OMIM:180860 |
Thrombocytopenia-Absent Radius Syndrome |
|
Short phalanx of finger, Atrioventricular canal defect, Absent thumb, Coxa valga, Hip dislocation... |
OMIM:274000 |
Pallister-Hall Syndrome |
|
Atrioventricular canal defect, Precocious puberty, Gonadotropin deficiency, Short 4th metacarpal,... |
ORPHA:672 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Aplasia/Hypoplasia of the cerebellum, Hypertrophic cardiomyopathy, Abnormal brainstem morphology |
ORPHA:79279 |
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Finger syndactyly, Cerebellar hypoplasia, Abnormal cerebellar vermis morphology, Toe syndactyly, ... |
ORPHA:3224 |
Short Rib-Polydactyly Syndrome |
|
Short tibia, Polydactyly, Abnormal pelvis bone ossification, Abnormal cerebellum morphology, Acet... |
ORPHA:1505 |
Endove Syndrome, Limb-Only Type |
|
Aplasia of the distal phalanges of the toes, Disproportionate shortening of the tibia, Cutaneous ... |
OMIM:619217 |
Orofaciodigital Syndrome Xiv |
|
Patent ductus arteriosus, Ventricular septal defect, Molar tooth sign on MRI, Cerebellar hypoplas... |
OMIM:615948 |
Pulmonary Capillary Hemangiomatosis |
|
Cyanosis, Pedal edema, Pulmonary edema, Pericardial effusion, Hypoxemia, Pleural effusion |
ORPHA:199241 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Truncus arteriosus, Ventricular septal defect, Atrial septal defect, Branchial fistula, Intrauter... |
ORPHA:261330 |
Cutis Laxa, Autosomal Recessive, Type Iie |
|
Genu varum, Hip dislocation, Clinodactyly of the 5th finger, Syndactyly, Brachydactyly, Deep palm... |
OMIM:619451 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Thyroid hypoplasia, Decreased circulating T4 concentration, Decreased circulating follicle stimul... |
ORPHA:226307 |
Acrocardiofacial Syndrome |
|
Camptodactyly of finger, Hyperthyroidism, Truncus arteriosus, Ventricular septal defect, Hallux v... |
ORPHA:2008 |
Aarskog-Scott Syndrome |
|
Camptodactyly of finger, Short foot, Finger syndactyly, Delayed eruption of teeth, Small hand, Cl... |
ORPHA:915 |
Encephalopathy, Ethylmalonic |
|
Acrocyanosis, Petechiae, Death in infancy |
OMIM:602473 |
Post-Traumatic Pituitary Deficiency |
|
Decreased response to growth hormone stimulation test, Decreased testicular size, Decreased circu... |
ORPHA:95619 |
Congenital Disorder Of Deglycosylation 2 |
|
Partial agenesis of the corpus callosum, Broad thumb, Sandal gap, Ulnar deviation of the hand, Bi... |
OMIM:619775 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hypogonadism, A... |
OMIM:262600 |
Arima Syndrome |
|
Dilated fourth ventricle, Hypoplasia of the brainstem, Molar tooth sign on MRI, Postaxial foot po... |
OMIM:243910 |
Joubert Syndrome 8 |
|
Occipital encephalocele, Molar tooth sign on MRI |
OMIM:612291 |
Lymphatic Malformation 7 |
|
Pulmonary edema, Lymphedema, Pericardial effusion, Nonimmune hydrops fetalis, Pleural effusion, E... |
OMIM:617300 |
Allan-Herndon-Dudley Syndrome |
|
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Hallux valgus |
OMIM:300523 |
Intellectual Developmental Disorder, Autosomal Dominant 4 |
|
Syndactyly, Short toe |
OMIM:612581 |
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Subvalvular aortic stenosis, 2-3 toe syndactyly, 2-3 finger syndactyly, Broad hallux, Complete at... |
OMIM:217085 |
Cleft Larynx, Posterior |
|
Cyanosis |
OMIM:215800 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Chiari malformation, Finger syndactyly, Toe syndactyly, Foo... |
ORPHA:60040 |
Craniofrontonasal Dysplasia |
|
Camptodactyly of finger, Finger syndactyly, Hand polydactyly, Clinodactyly of the 5th finger, Dow... |
ORPHA:1520 |
Absence Of The Pulmonary Artery |
|
Patent ductus arteriosus, Cyanosis, Hypocapnia, Pedal edema, Truncus arteriosus, Pulmonary edema,... |
ORPHA:980 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Elevated circulating thyroid-stimulating hormone concentration, Absent ossification of capital fe... |
ORPHA:226313 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
2-3 toe syndactyly, Short 5th finger, Ventricular septal defect, Perimembranous ventricular septa... |
OMIM:600987 |
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Thalamic calcification |
OMIM:618317 |
Spinocerebellar Ataxia Type 1 |
|
Cerebellar atrophy, Loss of Purkinje cells in the cerebellar vermis, Atrophy/Degeneration affecti... |
ORPHA:98755 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Spina bifida, Abnormality of dental eruption, Intrauterine growth retardation |
ORPHA:1327 |
Orofaciodigital Syndrome Viii |
|
Short tibia, Polydactyly, Syndactyly |
OMIM:300484 |
Pfeiffer Syndrome Type 3 |
|
Chiari malformation, Aqueductal stenosis, Finger syndactyly, Toe syndactyly, Small hand, Short ha... |
ORPHA:93260 |
Bardet-Biedl Syndrome 9 |
|
Polydactyly, Postaxial foot polydactyly, Syndactyly, Brachydactyly, Postaxial hand polydactyly, P... |
OMIM:615986 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Patent ductus arteriosus, Abnormal cardiac septum morphology, Cerebellar hypoplasia, Clinodactyly... |
OMIM:217980 |
Laryngotracheal Angioma |
|
Cyanosis |
ORPHA:137935 |
Apert Syndrome |
|
Humeroradial synostosis, Delayed eruption of teeth, Postaxial hand polydactyly, Cutaneous syndact... |
OMIM:101200 |
Bdv Syndrome |
|
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hyperin... |
OMIM:619326 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Patent ductus arteriosus, Encephalocele, Tapered finger, Delayed eruption of teeth, Advanced erup... |
OMIM:619148 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Hypothyroidism, Hypothalamic hamartoma, Ventricular septal defect, Cryptorchidism |
OMIM:619908 |
Microphthalmia With Limb Anomalies |
|
Short tibia, Toe syndactyly, Hip dislocation, Elbow dislocation, Postaxial hand polydactyly, Tali... |
ORPHA:1106 |
Anophthalmia Plus Syndrome |
|
Spina bifida |
ORPHA:1104 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
T2 hypointense thalamus |
OMIM:618193 |
Rubinstein-Taybi Syndrome 2 |
|
Short 5th toe, Short first metatarsal, Broad hallux, Syndactyly, Broad thumb, Prominent fingertip... |
OMIM:613684 |
Tarp Syndrome |
|
Short sternum, Postaxial polydactyly, Cerebellar hypoplasia, Hypoplasia of the radius, Clinodacty... |
OMIM:311900 |
Distal 22Q11.2 Microduplication Syndrome |
|
Patent ductus arteriosus, Webbed neck, Ventricular septal defect, Hydrocephalus, Low posterior ha... |
ORPHA:261337 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Polydactyly, Hypothyroidism, Short 5th finger, Clinodactyly of the 5th finger, Syndactyly, Crypto... |
ORPHA:397590 |
Mohr Syndrome |
|
Metaphyseal irregularity, Preaxial hand polydactyly, Preaxial foot polydactyly, Partial duplicati... |
OMIM:252100 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Cyanosis |
ORPHA:98913 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Meningocele, Spina bifida occulta, Anomalous pulmonary venous return, Short neck, Intrauterine gr... |
ORPHA:2311 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Patent foramen ovale, Ventricular septal defect, Clinodactyly, Camptodactyly, Syndactyly, Abnorma... |
ORPHA:369891 |
Benign Familial Neonatal Epilepsy |
|
Circumoral cyanosis |
ORPHA:1949 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Patent ductus arteriosus, Cyanosis, Anomalous origin of left pulmonary artery from ascending aort... |
ORPHA:99050 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Toe syndactyly, Testicular atrophy, Clinodactyly of the 5th finger, Syndactyly |
OMIM:601163 |
Hypoadrenocorticism, Familial |
|
Cyanosis |
OMIM:240200 |
White Forelock With Malformations |
|
Spina bifida occulta, Clinodactyly of the 5th finger, Finger syndactyly, Atrial septal defect |
ORPHA:2475 |
Adams-Oliver Syndrome 6 |
|
Foot oligodactyly, Ventricular septal defect, Truncus arteriosus, Syndactyly, Brachydactyly |
OMIM:616589 |
Oculocerebrocutaneous Syndrome |
|
Aplasia/Hypoplasia of the distal phalanges of the toes, Finger syndactyly, Cerebellar hypoplasia,... |
ORPHA:1647 |
Cranioectodermal Dysplasia |
|
Finger syndactyly, Clinodactyly of the 5th finger, Abnormal diaphysis morphology, Short distal ph... |
ORPHA:1515 |
Neuroferritinopathy |
|
Iron accumulation in substantia nigra, Abnormal dentate nucleus morphology, Abnormal thalamic MRI... |
ORPHA:157846 |
Blepharocheilodontic Syndrome 1 |
|
Neural tube defect |
OMIM:119580 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Enlarged pituitary gland, Diabetes insipidus, Increased circulating prolactin concentration, Ante... |
ORPHA:91350 |
Cerebrocostomandibular Syndrome |
|
Meningocele, Myelomeningocele, Webbed neck, Ventricular septal defect, Spina bifida, Hydranenceph... |
ORPHA:1393 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities |
|
Syndactyly, Clinodactyly |
OMIM:619091 |
Isolated Right Ventricular Hypoplasia |
|
Cyanosis, Pedal edema, Hypoxemia |
ORPHA:439 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Branchial anomaly |
ORPHA:466950 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Cyanosis, Short stature, Pulmonary artery hypoplasia, Delayed puberty, Growth delay, Right aortic... |
ORPHA:2326 |
19P13.12 Microdeletion Syndrome |
|
Hypothyroidism, Precocious puberty, Ventricular septal defect, Finger syndactyly, Clinodactyly of... |
ORPHA:254346 |
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
Cerebellar atrophy, T2 hypointense thalamus |
ORPHA:1947 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Central hypothyroidism, Increased circulating prolactin concentration, Gonadotropin deficiency, D... |
ORPHA:293987 |
Pseudohypoparathyroidism, Type Ic |
|
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Hypogonadism, Del... |
OMIM:612462 |
Curry-Jones Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly, Toe syndactyly, Foot polydactyly, Broad thumb, Abno... |
ORPHA:1553 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Cyanosis, Neonatal death, Death in infancy |
OMIM:265120 |
Verloove Vanhorick-Brubakk Syndrome |
|
Finger syndactyly, Abnormal metacarpal morphology, Abnormal pelvic girdle bone morphology, Crypto... |
ORPHA:3429 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Abnormality of thyroid physiology, Reduced radioactive iodine uptake, Decreased thyroid-stimulati... |
ORPHA:95715 |
Methylcobalamin Deficiency Type Cble |
|
Hypoplasia of the brainstem, Hydrocephalus, Clinodactyly, Syndactyly, Intrauterine growth retarda... |
ORPHA:2169 |
Acquired Methemoglobinemia |
|
Cyanosis, Hypoxemia |
ORPHA:464453 |
Microphthalmia With Brain And Digit Anomalies |
|
Finger syndactyly, Inferior cerebellar vermis hypoplasia, Postaxial foot polydactyly, Proximal pl... |
ORPHA:139471 |
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Small pituitary gland, Genu valgum, Cryptorchidism, Decreased testicular size |
OMIM:614880 |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Ulnar deviation of the hand, Small pituitary gland, Delayed puberty, Hypogonadotropic hypogonadis... |
OMIM:612079 |
Cenani-Lenz Syndactyly Syndrome |
|
Hypoplasia of the radius, Radioulnar synostosis, Hypoplasia of the ulna, Broad hallux, Syndactyly... |
OMIM:212780 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Focal T2 hyperintense thalamic lesion, Abnormal heart morphology |
ORPHA:79264 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Short tibia, Short toe, Short phalanx of finger, Absent toe, Short metacarpal, Finger symphalangi... |
OMIM:612576 |
Congenital Fibrinogen Deficiency |
|
Cyanosis, Bruising susceptibility, Subcutaneous hemorrhage |
ORPHA:335 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Acrocyanosis, Growth delay |
OMIM:614407 |
Congenital Tricuspid Valve Dysplasia |
|
Cyanosis, Hypoxemia, Pericardial effusion, Intrauterine growth retardation |
ORPHA:555874 |
Dravet Syndrome |
|
Cyanotic episode, Limited neck range of motion |
ORPHA:33069 |
Fg Syndrome Type 1 |
|
Clinodactyly of the 2nd finger, Abnormal cerebellum morphology, Finger syndactyly, Mitral valve p... |
ORPHA:93932 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Syndactyly, Clinodactyly, Arachnodactyly |
OMIM:619092 |
Tetrasomy 5P |
|
Cyanosis, Short neck, Redundant neck skin, Postnatal growth retardation |
ORPHA:3309 |
Hsd10 Disease, Infantile Type |
|
Cyanosis |
ORPHA:391428 |
Thyroid Hormone Resistance, Selective Pituitary |
|
Impaired sensitivity to thyroid hormone, Hyperthyroidism, Elevated circulating thyroid-stimulatin... |
OMIM:145650 |
Filippi Syndrome |
|
Ventricular septal defect, Finger syndactyly, Enlarged epiphyses, Clinodactyly of the 5th toe, Cl... |
ORPHA:3255 |
Leigh Syndrome With Cardiomyopathy |
|
Abnormality of thalamus morphology, Abnormal brainstem morphology, Dilated cardiomyopathy, Hypert... |
ORPHA:70474 |
Cenani-Lenz Syndrome |
|
Hypothyroidism, Foot oligodactyly, Finger syndactyly, Toe syndactyly, Hypoplasia of the radius, S... |
ORPHA:3258 |
Cryptogenic Organizing Pneumonia |
|
Cyanosis, Hypoxemia |
ORPHA:1302 |
Adams-Oliver Syndrome |
|
Abnormality of the upper limb, Encephalocele, Finger syndactyly, Hydrocephalus, Abnormal metacarp... |
ORPHA:974 |
Orofaciodigital Syndrome I |
|
Pancreatic cysts, Polydactyly, Myelomeningocele, Cerebellar cyst, Hydrocephalus, Clinodactyly, Sy... |
OMIM:311200 |
Hyperthyroidism, Familial Gestational |
|
Decreased thyroid-stimulating hormone level, Increased circulating T4 concentration, Hyperthyroidism |
OMIM:603373 |
Meningioma |
|
Enlarged pituitary gland, Decreased circulating follicle stimulating hormone concentration, Incre... |
ORPHA:2495 |
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Syndactyly, Clinodactyly, Cerebellar vermis atrophy, Cerebellar hypoplasia |
OMIM:618087 |
Acromelic Frontonasal Dysostosis |
|
Retrocerebellar cyst, Short tibia, Polydactyly, Encephalocele, Patellar hypoplasia, Preaxial foot... |
OMIM:603671 |
Duane-Radial Ray Syndrome |
|
Triphalangeal thumb, Shoulder dislocation, Absent thumb, Radial deviation of the hand, Ventricula... |
OMIM:607323 |
Desbuquois Dysplasia 2 |
|
Short phalanx of finger, Genu varum, Advanced ossification of carpal bones, Coxa valga, Short met... |
OMIM:615777 |
Truncus Arteriosus |
|
Patent ductus arteriosus, Cyanosis, Truncus arteriosus, Pulmonary edema, Anomalous origin of one ... |
ORPHA:3384 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Radial bowing, Ulnar bowing, Hip dislocation, Clinodactyly of the 5th finger, Syndactyly, Limited... |
OMIM:605432 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Syndactyly, Camptodactyly, Pericardial lymphangiectasia |
OMIM:616006 |
Meckel Syndrome 14 |
|
Cyanosis, Oligohydramnios, Short neck, Occipital encephalocele, Increased nuchal translucency |
OMIM:619879 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hypergonadotropic hypogonadism, P... |
OMIM:617872 |
Graves Disease, Susceptibility To, 1 |
|
Increased circulating free T3, Decreased thyroid-stimulating hormone level, Graves disease, Incre... |
OMIM:275000 |
Hereditary Bullous Dystrophy, Macular Type |
|
Acrocyanosis, Growth delay, Short stature |
ORPHA:1867 |
Camptobrachydactyly |
|
Short toe, Congenital finger flexion contractures, Hand polydactyly, Syndactyly, Brachydactyly |
OMIM:114150 |
Leigh Syndrome |
|
Abnormal dentate nucleus morphology, Ventricular septal defect, Abnormal brainstem MRI signal int... |
ORPHA:506 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cyanosis, Pulmonary edema, Pericardial effusion, Pleural effusion, Peripheral edema, Anasarca, As... |
OMIM:261740 |
Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Split hand, Intrauterine growth retardation, Brachydactyly |
ORPHA:2145 |
Joubert Syndrome 5 |
|
Molar tooth sign on MRI, Aplasia/Hypoplasia of the cerebellar vermis, Occipital encephalocele, Ag... |
OMIM:610188 |
2Q31.1 Microdeletion Syndrome |
|
Camptodactyly of finger, Tapered finger, Ventricular septal defect, Short foot, Finger syndactyly... |
ORPHA:251014 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Abnormality of thalamus morphology, Decreased serum estradiol, Neoplasm of the pancreas, Brachyda... |
ORPHA:2959 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Ventricular septal defect, Short long bone, Femoral bowing, Syndactyly, Preaxial polydactyly, Ace... |
OMIM:615503 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
2-3 toe syndactyly, Short femoral neck, Coxa vara, Radioulnar synostosis, Clinodactyly of the 5th... |
OMIM:614701 |
Chronic Pneumonitis Of Infancy |
|
Cyanosis, Hypoxemia |
ORPHA:91359 |
Mitochondrial Phosphate Carrier Deficiency |
|
Cyanosis |
OMIM:610773 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Acrocyanosis, Purpura, Growth delay, Erythema, Urticaria |
ORPHA:343 |
Treacher-Collins Syndrome |
|
Patent ductus arteriosus, Branchial fistula, Encephalocele |
ORPHA:861 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
2-3 toe syndactyly, Dilated third ventricle, Ventricular septal defect, Lateral ventricle dilatat... |
ORPHA:464738 |
Congenital Tracheal Stenosis |
|
Patent ductus arteriosus, Cyanosis, Polyhydramnios, Anomalous origin of left pulmonary artery fro... |
ORPHA:141127 |
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome |
|
Meningocele |
ORPHA:2003 |
Prolactinoma |
|
Female hypogonadism, Hypogonadism, Anterior hypopituitarism, Decreased circulating ACTH level, Ad... |
ORPHA:2965 |
Sepsis In Premature Infants |
|
Cyanosis, Petechiae, Jaundice, Purpura, Edema |
ORPHA:90051 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Hypoplastic ilia, Ventricular septal defect, Hypoplasia of the radius, Syndactyly, Brachydactyly,... |
OMIM:617895 |
Silver-Russell Syndrome 3 |
|
Patent ductus arteriosus, Small hand, Clinodactyly of the 5th finger, Unilateral cryptorchidism, ... |
OMIM:616489 |
Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Hypothyroidism, Anterior pituitary hypoplasia, Decreased circulating free T4 concentration, Reduc... |
OMIM:613038 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Increased circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone c... |
ORPHA:99832 |
New-Onset Refractory Status Epilepticus |
|
Abnormal thalamic MRI signal intensity, Cerebellar edema |
ORPHA:363558 |
Mosaic Trisomy 9 |
|
Patent ductus arteriosus, Webbed neck, Ventricular septal defect, Spina bifida, Abnormal heart va... |
ORPHA:99776 |
Charcot-Marie-Tooth Disease, Type 4B3 |
|
Syndactyly |
OMIM:615284 |
Waardenburg Syndrome Type 1 |
|
Meningocele, Spina bifida |
ORPHA:894 |
Kbg Syndrome |
|
Single transverse palmar crease, Cryptorchidism, Congenital malformation of the left heart, Finge... |
ORPHA:2332 |
Curry-Jones Syndrome |
|
Preaxial hand polydactyly, 2-3 finger syndactyly, Preaxial foot polydactyly, Lipomyelomeningocele... |
OMIM:601707 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Patent ductus arteriosus, Mitral valve prolapse, Hydrocephalus, Absent nipple, Congenital hip dis... |
OMIM:104350 |
Acrofacial Dysostosis, Catania Type |
|
Finger syndactyly, Small hand, Clinodactyly of the 5th finger, Brachydactyly, Spina bifida occult... |
ORPHA:1786 |
Craniodigital-Intellectual Disability Syndrome |
|
Spina bifida occulta, Finger syndactyly |
ORPHA:1514 |
Teebi Hypertelorism Syndrome 2 |
|
Syndactyly, Clinodactyly of the 5th finger, Delayed eruption of teeth |
OMIM:619736 |
Mosaic Trisomy 16 |
|
Patent ductus arteriosus, Ventricular septal defect, Short femoral neck, Craniofacial asymmetry, ... |
ORPHA:1708 |
19Q13.11 Microdeletion Syndrome |
|
Ventricular septal defect, Finger syndactyly, Toe syndactyly, Clinodactyly of the 5th finger, Sup... |
ORPHA:217346 |
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy |
|
Cerebellar cyst, Abnormal pons morphology, Abnormal brainstem morphology, Cerebellar vermis hypop... |
ORPHA:370997 |
Ethylmalonic Encephalopathy |
|
Acrocyanosis, Petechiae |
ORPHA:51188 |
Neurocutaneous Melanocytosis |
|
Meningocele |
ORPHA:2481 |
Lethal Acantholytic Erosive Disorder |
|
Natal tooth, 2-3 finger syndactyly, 4-5 finger syndactyly, Camptodactyly of toe, Clinodactyly of ... |
ORPHA:158687 |
Hypothyroidism, Congenital, Nongoitrous, 9 |
|
Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Decreased circu... |
OMIM:301035 |
Cerebrofacioarticular Syndrome |
|
Caudal appendage, Talipes equinovarus, Camptodactyly, Syndactyly, Absence of pubertal development... |
ORPHA:314679 |
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Finger syndactyly, Toe syndactyly, Cryptorchidism, Arachnodactyly, Short palm, Intrauterine growt... |
ORPHA:73246 |
Kury-Isidor Syndrome |
|
Ventricular septal defect, Finger syndactyly, Hip dysplasia, Brachydactyly, Proximal placement of... |
OMIM:619762 |
Methemoglobinemia And Ambiguous Genitalia |
|
Cyanosis |
OMIM:250790 |
Isolated Split Hand-Split Foot Malformation |
|
Split hand, Absent hand, Finger syndactyly, Oligodactyly |
ORPHA:2440 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Increased radioactive iodine uptake, Elevated circulating thyroid-stimulating hormone concentrati... |
ORPHA:90673 |
Iniencephaly |
|
Spinal dysraphism, Encephalocele, Myelomeningocele, Spina bifida, Anencephaly, Hydrocephalus, Hol... |
ORPHA:63259 |
Eem Syndrome |
|
Ectrodactyly, Finger syndactyly |
ORPHA:1897 |
Combined Oxidative Phosphorylation Defect Type 7 |
|
Abnormal brainstem MRI signal intensity, Abnormal thalamic MRI signal intensity |
ORPHA:254930 |
Sacral Defect With Anterior Meningocele |
|
Meningocele, Myelomeningocele, Hydrocephalus, Myeloschisis, Dermal sinus tract |
OMIM:600145 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Cyanosis, Foam cells, Hypoxemia |
ORPHA:747 |
Opitz-Kaveggia Syndrome |
|
Joint contracture of the hand, Hydrocephalus, Camptodactyly, Clinodactyly, Broad hallux, Syndacty... |
OMIM:305450 |
Lateral Meningocele Syndrome |
|
Meningocele, Ventricular septal defect, Short neck, Low posterior hairline, Umbilical hernia |
ORPHA:2789 |
Pituitary Dermoid And Epidermoid Cysts |
|
Enlarged pituitary gland, Increased circulating prolactin concentration, Hypogonadism, Hyperpitui... |
ORPHA:91351 |
Cantú Syndrome |
|
Patent ductus arteriosus, Coxa valga, Finger syndactyly, Abnormal metaphysis morphology, Hypertro... |
ORPHA:1517 |
Pfeiffer Syndrome |
|
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Hip dysplasia, Synostosis o... |
ORPHA:710 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Proximal symphalangism of hands, Anterior pituitary hypoplasia, Humeroradial synostosis, Hyperext... |
OMIM:151050 |
Fountain Syndrome |
|
Spina bifida occulta, Spina bifida |
ORPHA:3219 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Hyperthyroidism, Increased circulating T4 concentration, Decreased thyroid-stimulating hormone le... |
OMIM:613239 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Cyanosis, Neonatal death, Hypoxemia, Death in infancy |
OMIM:610921 |
Hypothyroidism, Congenital, Nongoitrous, 1 |
|
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Thyroid hypoplasi... |
OMIM:275200 |
Schizophrenia 1 |
|
Syndactyly, Short proximal phalanx of the 4th toe |
OMIM:181510 |
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
|
Small pituitary gland, Delayed puberty, Hypogonadotropic hypogonadism, Cryptorchidism |
OMIM:612702 |
Aortic Arch Interruption |
|
Patent ductus arteriosus, Cyanosis, Pedal edema, Abnormal ascending aorta morphology, Aortopulmon... |
ORPHA:2299 |
Tsh-Secreting Pituitary Adenoma |
|
Enlarged pituitary gland, Pericardial effusion, Euthyroid hyperthyroxinemia, Increased circulatin... |
ORPHA:91347 |
Laryngotracheoesophageal Cleft |
|
Cyanosis |
ORPHA:2004 |
14Q22Q23 Microdeletion Syndrome |
|
Diabetes insipidus, Anterior pituitary hypoplasia, Short 4th metacarpal, Short foot, Short 5th me... |
ORPHA:264200 |
Adams-Oliver Syndrome 5 |
|
Patent foramen ovale, Syndactyly, Right ventricular hypertrophy, Brachydactyly, Right atrial enla... |
OMIM:616028 |
Lateral Meningocele Syndrome |
|
Meningocele, Patent ductus arteriosus, Ventricular septal defect, Bicuspid aortic valve, Hydrocep... |
OMIM:130720 |
8Q24.3 Microdeletion Syndrome |
|
Patent ductus arteriosus, Atrioventricular canal defect, Ventricular septal defect, Truncus arter... |
ORPHA:508488 |
Aicardi-Goutieres Syndrome 1 |
|
Petechiae, Short stature, Acrocyanosis, Purpura, Erythema, Prolonged neonatal jaundice |
OMIM:225750 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Focal T2 hyperintense thalamic lesion, Cardiomyopathy |
OMIM:619046 |
17Q12 Microduplication Syndrome |
|
Toe syndactyly, Finger syndactyly, Atrial septal defect |
ORPHA:261272 |
2Q37 Microdeletion Syndrome |
|
Short foot, Short metacarpal, Finger syndactyly, Toe syndactyly, Small hand, Clinodactyly of the ... |
ORPHA:1001 |
Congenital Myasthenic Syndrome |
|
Cyanosis, Polyhydramnios |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Cyanosis, Polyhydramnios |
ORPHA:98914 |
Sheehan Syndrome |
|
Abnormal size of pituitary gland, Gonadotropin deficiency, Decreased serum estradiol, Decreased c... |
ORPHA:91355 |
Holoprosencephaly 7 |
|
Hypoplasia of the brainstem, Hydrocephalus, Semilobar holoprosencephaly, Panhypopituitarism, Loba... |
OMIM:610828 |
Rare Circulatory System Disease |
|
Cyanosis, Arterial calcification |
ORPHA:98028 |
Yunis-Varon Syndrome |
|
Aplasia of the 1st metacarpal, Absent thumb, Aplasia of the distal phalanges of the hand, Tapered... |
ORPHA:3472 |
Pulmonary Arteriovenous Malformation |
|
Cyanosis, Telangiectasia, Hypoxemia, Pleural empyema |
ORPHA:2038 |
Cohen Syndrome |
|
Genu valgum, Arachnodactyly, Tapered finger, Ventricular septal defect, Finger syndactyly, Mitral... |
ORPHA:193 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Precocious puberty, Decreased response to growth hormone stimulation test, Clinodactyly, Clinodac... |
ORPHA:96182 |
Hypothyroidism, Congenital, Nongoitrous, 5 |
|
Patent foramen ovale, Hypothyroidism, Decreased circulating free T4 concentration, Elevated circu... |
OMIM:225250 |
Acute Disseminated Encephalomyelitis |
|
Abnormal brainstem MRI signal intensity, Abnormal thalamic MRI signal intensity, Abnormal cerebel... |
ORPHA:83597 |
Prader-Willi Syndrome |
|
Hyperinsulinemia, Precocious puberty, Decreased response to growth hormone stimulation test, Smal... |
OMIM:176270 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Abnormal thalamic MRI signal intensity, Abnormal cerebellar cortex morphology, Dilated cardiomyop... |
ORPHA:70595 |
Oculodentodigital Dysplasia |
|
Aplasia/Hypoplasia of the cerebellum, Camptodactyly of finger, Preaxial hand polydactyly, Ventric... |
ORPHA:2710 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Cyanosis |
OMIM:261680 |
Isolated Exencephaly |
|
Aplasia/Hypoplasia of the cerebellum, Anterior pituitary hypoplasia, Maternal diabetes, Holoprose... |
ORPHA:563612 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Polydactyly, Short long bone, Flat acetabular roof, Syndactyly, Brachydactyly, Short distal phala... |
OMIM:614091 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Meningocele |
ORPHA:2031 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Cyanosis, Hypoxemia |
OMIM:610910 |
Neu-Laxova Syndrome 1 |
|
Toe syndactyly, Camptodactyly, Radial deviation of finger, Rocker bottom foot, Patent foramen ova... |
OMIM:256520 |
Ring Chromosome 12 Syndrome |
|
Hypothyroidism, Secundum atrial septal defect, Clinodactyly, Abnormal 5th finger morphology, Synd... |
ORPHA:1439 |
Amish Lethal Microcephaly |
|
Spina bifida |
ORPHA:99742 |
Hamamy Syndrome |
|
Tapered finger, Hip dysplasia, Clinodactyly of the 5th finger, Atrial septal defect, Down-sloping... |
OMIM:611174 |
Ethylene Glycol Poisoning |
|
Cyanosis, Renal tubular epithelial necrosis, Cerebral edema, Pulmonary edema |
ORPHA:31826 |
Igg4-Related Thyroid Disease |
|
Hypothyroidism, Nodular goiter, Thyroiditis, Thyrotoxicosis with diffuse goiter, Graves disease, ... |
ORPHA:64744 |
Neu-Laxova Syndrome 2 |
|
Finger syndactyly, Cerebellar hypoplasia, Spina bifida, Toe syndactyly, Intrauterine growth retar... |
OMIM:616038 |
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
|
Syndactyly, Congenital bilateral hip dislocation, Cryptorchidism |
ORPHA:404451 |
20P13 Microdeletion Syndrome |
|
Polydactyly, Clinodactyly, Finger syndactyly, Brachydactyly |
ORPHA:313781 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Polydactyly, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test... |
ORPHA:95494 |
Poems Syndrome |
|
Pericardial effusion, Acrocyanosis, Pleural effusion, Edema, Ascites |
ORPHA:2905 |
Limb Body Wall Complex |
|
Myelomeningocele, Encephalocele, Ventricular septal defect, Spina bifida, Short umbilical cord, A... |
ORPHA:2369 |
Acro-Renal-Ocular Syndrome |
|
Triphalangeal thumb, Radial club hand, Preaxial hand polydactyly, Finger syndactyly, Toe syndacty... |
ORPHA:959 |
Arnold-Chiari Malformation Type Ii |
|
Meningocele, Cyanosis, Myelomeningocele |
ORPHA:1136 |
Acrofrontofacionasal Dysostosis 2 |
|
Broad hallux, Syndactyly, Broad thumb, Hand polydactyly |
OMIM:239710 |
Bardet-Biedl Syndrome 6 |
|
Syndactyly, Diabetes mellitus, Postaxial polydactyly |
OMIM:605231 |
Acrocallosal Syndrome |
|
Bifid distal phalanx of the thumb, Preaxial hand polydactyly, Tapered finger, Finger syndactyly, ... |
OMIM:200990 |
Mckusick-Kaufman Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Finger syndactyly, Abnormal metacarpal morph... |
ORPHA:2473 |
Acquired Purpura Fulminans |
|
Macular purpura, Acrocyanosis |
ORPHA:49566 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Macroorchidism, Increased circulating prolactin concentration, Increased pituitary glycoprotein h... |
ORPHA:90674 |
Pseudohypoparathyroidism Type 1C |
|
Broad distal phalanx of the thumb, Decreased response to growth hormone stimulation test, Short 4... |
ORPHA:79444 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Finger syndactyly, Abnormality of the elbow, Synostosis of carpal bones, Hip dislocation, Clinoda... |
ORPHA:1005 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Central hypothyroidism, Precocious puberty, Small hand, Hypogonadism, Hypothalamic luteinizing ho... |
ORPHA:398079 |
Heterotaxy, Visceral, 7, Autosomal |
|
Cyanosis, Interrupted aortic arch, Pulmonary artery hypoplasia, Pulmonary artery atresia, Right a... |
OMIM:616749 |
Focal Dermal Hypoplasia |
|
Patent ductus arteriosus, Camptodactyly of finger, Abnormal palmar dermatoglyphics, Ventricular s... |
ORPHA:2092 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Decreased circulating follicle stimulating hormone concentration, Decreased circulating ACTH leve... |
OMIM:613986 |
Poland Syndrome |
|
Spina bifida occulta, Absent hand, Finger symphalangism, Abnormality of the humerus, Hand polydac... |
ORPHA:2911 |
Crane-Heise Syndrome |
|
Aplastic clavicle, Finger syndactyly, Toe syndactyly, Cryptorchidism, Short distal phalanx of fin... |
ORPHA:1512 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cyanosis |
OMIM:619580 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Elevated circulating thyroid-stimulating hormone concentration, Gonadotropin deficiency, Ventricu... |
OMIM:610978 |
Sandhoff Disease, Infantile Form |
|
Mitral valve prolapse, Abnormal thalamic MRI signal intensity |
ORPHA:309155 |
Cri-Du-Chat Syndrome |
|
Short metacarpal, High axial triradius, Metatarsus adductus, Syndactyly, Single transverse palmar... |
OMIM:123450 |
X Small Rings |
|
2-3 toe syndactyly, Upper limb undergrowth, Tapered finger, Ventricular septal defect, Mitral ste... |
ORPHA:96201 |
Heterotaxy, Visceral, 1, X-Linked |
|
Subvalvular aortic stenosis, Atrioventricular canal defect, Right atrial isomerism, Patent forame... |
OMIM:306955 |
Apert Syndrome |
|
Aplasia/Hypoplasia of the thumb, Chiari malformation, Finger syndactyly, Delayed eruption of teet... |
ORPHA:87 |
Waardenburg Syndrome Type 3 |
|
Acrocyanosis |
ORPHA:896 |
Postaxial Acrofacial Dysostosis |
|
Camptodactyly of finger, Finger syndactyly, Hypoplasia of the radius, Supernumerary nipple, Hypop... |
ORPHA:246 |
Premature Aging Syndrome, Penttinen Type |
|
Retrocerebellar cyst, Elevated circulating thyroid-stimulating hormone concentration, Short foot,... |
OMIM:601812 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Small pituitary gland, Nasofrontal encephalocele, Hydrocephalus |
OMIM:614195 |
Developmental And Epileptic Encephalopathy 108 |
|
Small pituitary gland |
OMIM:620115 |
Cardiac Valvular Dysplasia 2 |
|
Pulmonary artery dilatation, Ascending tubular aorta aneurysm, Central cyanosis |
OMIM:620067 |
Tarp Syndrome |
|
Short sternum, Rocker bottom foot, Postaxial polydactyly, Finger syndactyly, Cerebellar hypoplasi... |
ORPHA:2886 |
Rubinstein-Taybi Syndrome |
|
Finger syndactyly, Hip dysplasia, Clubbing of toes, Clinodactyly of the 5th finger, Abnormal dist... |
ORPHA:783 |
Choroidal Atrophy-Alopecia Syndrome |
|
Finger syndactyly, Supernumerary nipple |
ORPHA:1433 |
Acromelic Frontonasal Dysplasia |
|
Meningocele, Encephalocele |
ORPHA:1827 |
Hartsfield Syndrome |
|
Diabetes insipidus, Gonadotropin deficiency, Semilobar holoprosencephaly, Alobar holoprosencephal... |
OMIM:615465 |
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Camptodactyly of finger, Finger syndactyly, Synostosis of carpal bones, Abnormal hip bone morphol... |
ORPHA:1323 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Cyanosis |
ORPHA:488627 |
Roberts Syndrome |
|
Wrist flexion contracture, Aplasia/Hypoplasia of the thumb, Abnormality of the upper limb, Comple... |
ORPHA:3103 |
Epidermolysis Bullosa, Junctional 1B, Severe |
|
Syndactyly |
OMIM:226700 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Patent ductus arteriosus, Short toe, Tapered finger, Ventricular septal defect, Abnormal brainste... |
ORPHA:464311 |
Vacterl/Vater Association |
|
Preaxial hand polydactyly, Finger syndactyly, Abnormal cardiac septum morphology, Anencephaly, Ap... |
ORPHA:887 |
Genetic Transient Congenital Hypothyroidism |
|
Elevated circulating thyroid-stimulating hormone concentration, Abnormal radioactive iodine uptak... |
ORPHA:226316 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Cyanosis |
ORPHA:159 |
Bardet-Biedl Syndrome 1 |
|
Hypogonadism, Decreased testicular size, Foot polydactyly, Abnormality of the ovary, Left ventric... |
OMIM:209900 |
Autosomal Recessive Robinow Syndrome |
|
Camptodactyly of finger, Toe syndactyly, Elbow dislocation, Ventricular septal defect, Synostosis... |
ORPHA:1507 |
Fanconi Anemia |
|
Abnormal cardiac septum morphology, Abnormal testis morphology, Toe syndactyly, Hip dislocation, ... |
ORPHA:84 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Cerebellar atrophy, Abnormal thalamic MRI signal intensity |
ORPHA:485421 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Primary gonadal insufficiency, Decreased palmar creases, Triphalangeal thumb, Decreased serum est... |
ORPHA:2232 |
Acrofacial Dysostosis, Palagonia Type |
|
Spina bifida occulta, Short 4th metacarpal, Finger syndactyly, Small hand |
ORPHA:1787 |
Atrial Septal Defect, Ostium Primum Type |
|
Cyanosis, Peripheral edema, Pulmonary artery dilatation |
ORPHA:99106 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Cyanosis, Cerebral edema, Growth delay, Death in infancy |
OMIM:252010 |
Acro-Renal-Mandibular Syndrome |
|
Finger syndactyly, Hypoplasia of the radius, Hip dislocation, Hypoplasia of the ulna, Split foot,... |
ORPHA:958 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Camptodactyly of finger, Arachnodactyly, Tapered finger, Finger syndactyly, Advanced eruption of ... |
ORPHA:2215 |
Brain-Lung-Thyroid Syndrome |
|
Patent foramen ovale, Thyroid hemiagenesis, Elevated circulating thyroid-stimulating hormone conc... |
ORPHA:209905 |
Pulmonary Alveolar Microlithiasis |
|
Cyanosis, Calcification of the aorta, Hypoxemia, Oxygen desaturation on exertion, Peripheral edema |
ORPHA:60025 |
Hydranencephaly |
|
Thalamic edema, Dilatation of the ventricular cavity, Atrophic pituitary gland, Dysgenesis of the... |
ORPHA:2177 |
Choanal Atresia |
|
Cyanosis |
ORPHA:137914 |
Moebius Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Aplasia/Hypoplasia involving the metacarpal b... |
ORPHA:570 |
Pseudohypoparathyroidism Type 1A |
|
Broad distal phalanx of the thumb, Decreased response to growth hormone stimulation test, Short 4... |
ORPHA:79443 |
Congenital Tracheomalacia |
|
Patent ductus arteriosus, Cyanosis, Double aortic arch, Right aortic arch, Abnormal pulmonary art... |
ORPHA:95430 |
Alobar Holoprosencephaly |
|
Central hypothyroidism, Diabetes insipidus, Decreased response to growth hormone stimulation test... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Central hypothyroidism, Diabetes insipidus, Decreased response to growth hormone stimulation test... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Central hypothyroidism, Diabetes insipidus, Decreased response to growth hormone stimulation test... |
ORPHA:93924 |
Pagod Syndrome |
|
Meningocele, Encephalocele, Spina bifida, Hypoplastic left heart, Situs inversus totalis |
ORPHA:991 |
Semilobar Holoprosencephaly |
|
Central hypothyroidism, Diabetes insipidus, Decreased response to growth hormone stimulation test... |
ORPHA:220386 |
Eisenmenger Syndrome |
|
Patent ductus arteriosus, Cyanosis, Pedal edema, Aortopulmonary window, Hypoxemia, Peripheral ede... |
ORPHA:97214 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Patent ductus arteriosus, Patent foramen ovale, Short phalanx of finger, Ventricular septal defec... |
OMIM:616894 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Central hypothyroidism, Precocious puberty, Small hand, Hypogonadism, Hypothalamic luteinizing ho... |
ORPHA:398069 |
Trisomy 18 |
|
Webbed neck, Ventricular septal defect, Spina bifida, Anencephaly, Atrial septal defect, Holopros... |
ORPHA:3380 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Syndactyly |
OMIM:615631 |
Lumbar Syndrome |
|
Spina bifida, Myelomeningocele |
ORPHA:83628 |
Criss-Cross Heart |
|
Cyanosis |
ORPHA:1461 |
Esophageal Atresia |
|
Cyanosis, Polyhydramnios, Growth delay, Coarctation of aorta |
ORPHA:1199 |
Vacterl With Hydrocephalus |
|
Aqueductal stenosis, Spina bifida, Arrhinencephaly, Hydrocephalus, Intrauterine growth retardation |
ORPHA:3412 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Annular pancreas, Hip ... |
OMIM:616975 |
Townes-Brocks Syndrome 1 |
|
Hypothyroidism, 2-3 toe syndactyly, 2-4 finger syndactyly, Clinodactyly of the 5th toe, Metatarsa... |
OMIM:107480 |
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Broad hallux, Syndactyly, Single transverse palmar crease, Sandal gap, Brachydactyly |
OMIM:614800 |
Trisomy 20P |
|
Spina bifida, Short neck, Umbilical hernia, Low posterior hairline |
ORPHA:261318 |
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Patent ductus arteriosus, Finger syndactyly, Toe syndactyly, Abnormal metacarpal morphology, Apla... |
ORPHA:1112 |
Bartsocas-Papas Syndrome |
|
Toe syndactyly, Absent thumb, Finger syndactyly, Aplasia/Hypoplasia of the distal phalanges of th... |
ORPHA:1234 |
Larsen Syndrome |
|
Accessory carpal bones, Finger syndactyly, Brachydactyly, Broad thumb, Cryptorchidism, Short dist... |
ORPHA:503 |
Blue Diaper Syndrome |
|
Elevated circulating thyroid-stimulating hormone concentration, Decreased circulating T4 concentr... |
ORPHA:94086 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Rocker bottom foot, Arachnodactyly, Patellar aplasia, Talipes equinovarus, Camptodactyly, Hip dis... |
OMIM:265000 |
Neurocardiofaciodigital Syndrome |
|
Patent ductus arteriosus, Dilated fourth ventricle, Polydactyly, Lateral ventricle dilatation, At... |
OMIM:619869 |
Congenital Disorder Of Glycosylation, Type Iiq |
|
Small pituitary gland |
OMIM:617395 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Hip subluxation, Anterior pituitary hypoplasia, E... |
OMIM:613457 |
Teebi-Shaltout Syndrome |
|
Ventricular septal defect, Caudal appendage, Camptodactyly, Metatarsus adductus, Syndactyly, Sing... |
OMIM:272950 |
Cog2-Cdg |
|
Small pituitary gland |
ORPHA:435934 |
Schimke Immunoosseous Dysplasia |
|
Elevated circulating thyroid-stimulating hormone concentration, Bilateral cryptorchidism, Hypopla... |
OMIM:242900 |
Cardiac Valvular Dysplasia 1 |
|
Cyanosis, Left aortic arch with cervical origin of the right subclavian artery, Hydrops fetalis, ... |
OMIM:212093 |
Short Stature With Microcephaly And Distinctive Facies |
|
Short digit, Syndactyly, Proximal placement of thumb, Brachydactyly, Short distal phalanx of fing... |
OMIM:615789 |
8Q22.1 Microdeletion Syndrome |
|
Camptodactyly of finger, Finger syndactyly, Hypogonadism, Sandal gap, Cryptorchidism |
ORPHA:178303 |
Aceruloplasminemia |
|
Diabetes mellitus, Abnormal dentate nucleus morphology, Abnormal thalamic MRI signal intensity, A... |
ORPHA:48818 |
Rubinstein-Taybi Syndrome 1 |
|
Polydactyly, Premature thelarche, Flared iliac wing, Spina bifida occulta, Duplication of phalanx... |
OMIM:180849 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Acrocyanosis, Purpura, Cutis marmorata, Urticaria |
ORPHA:183 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Hip contracture, Osteolysis involving bones of the upper limbs, Hypertrophic cardiomyopathy, Oste... |
ORPHA:464321 |
Branchiooculofacial Syndrome |
|
Low posterior hairline, Short neck, Branchial anomaly, Intrauterine growth retardation |
OMIM:113620 |
Smith-Lemli-Opitz Syndrome |
|
Patent ductus arteriosus, Atrioventricular canal defect, Aplasia/Hypoplasia of the cerebellum, 2-... |
ORPHA:818 |
Hyperoxaluria, Primary, Type I |
|
Acrocyanosis, Cutis marmorata, Peripheral arterial stenosis, Dehydration |
OMIM:259900 |
Prader-Willi Syndrome |
|
Central hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test... |
ORPHA:739 |
Constricting Bands, Congenital |
|
Encephalocele, Hand polydactyly, Ectopia cordis, Syndactyly, Talipes equinovarus |
OMIM:217100 |
Microphthalmia, Syndromic 3 |
|
Patent ductus arteriosus, Anterior pituitary hypoplasia, Ventricular septal defect, Cryptorchidis... |
OMIM:206900 |
Jacobsen Syndrome |
|
Short toe, Ventricular septal defect, Finger syndactyly, Spina bifida, Annular pancreas, Toe synd... |
ORPHA:2308 |
Klippel-Trenaunay-Weber Syndrome |
|
Hand oligodactyly, Syndactyly, Hand polydactyly, Macrodactyly |
OMIM:149000 |
Simpson-Golabi-Behmel Syndrome |
|
Camptodactyly of finger, Short toe, Ventricular septal defect, Finger syndactyly, Toe syndactyly,... |
ORPHA:373 |
Tay-Sachs Disease |
|
Distal upper limb muscle weakness, Precocious puberty, Abnormal thalamic MRI signal intensity, Li... |
ORPHA:845 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Hy... |
ORPHA:2990 |
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities |
|
Clinodactyly of the 5th finger, Syndactyly, Cryptorchidism, Hypoplastic nipples, Broad palm |
OMIM:618505 |
Yunis-Varon Syndrome |
|
Short 2nd finger, Absent thumb, Tapered finger, Tapered toe, Toe syndactyly, Hip dislocation, Pal... |
OMIM:216340 |
Grange Syndrome |
|
Coronary artery stenosis, Bicuspid aortic valve, Syndactyly, Brachydactyly, Finger clinodactyly |
OMIM:602531 |
Fucosidosis |
|
Vascular skin abnormality, Acrocyanosis |
ORPHA:349 |
Familial Cerebral Saccular Aneurysm |
|
Abnormal brainstem morphology |
ORPHA:231160 |
Myoclonic-Astatic Epilepsy |
|
Syndactyly |
ORPHA:1942 |
Pseudohypoparathyroidism Type 1B |
|
Decreased response to growth hormone stimulation test, Delayed eruption of teeth, Elevated circul... |
ORPHA:94089 |
Postaxial Acrofacial Dysostosis |
|
Hypoplasia of the radius, Radioulnar synostosis, Supernumerary nipple, Hypoplasia of the ulna, Co... |
OMIM:263750 |
Tukel Syndrome |
|
Syndactyly, Carpal bone aplasia, Postaxial oligodactyly, Carpal synostosis |
OMIM:609428 |
Wilson Disease |
|
Face of the giant panda sign, Hypoparathyroidism |
OMIM:277900 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Cyanosis, Hypoxemia |
OMIM:610913 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Cyanosis, Death in childhood, Death in infancy |
OMIM:618426 |
Robinow Syndrome |
|
Marked delay in eruption of permanent teeth, Bifid distal phalanx of the thumb, Pulmonary valve a... |
ORPHA:97360 |
Craniofacial Microsomia |
|
Patent ductus arteriosus, Branchial anomaly, Ventricular septal defect, Hydrocephalus, Occipital ... |
OMIM:164210 |
Loeys-Dietz Syndrome 2 |
|
Patent ductus arteriosus, Protrusio acetabuli, Chiari malformation, Joint contracture of the hand... |
OMIM:610168 |
Bardet-Biedl Syndrome |
|
Finger syndactyly, Hypogonadism, Hypoplasia of the ovary, Cryptorchidism, Postaxial hand polydactyly |
ORPHA:110 |
Saethre-Chotzen Syndrome |
|
Triphalangeal thumb, Hallux valgus, Finger syndactyly, Clinodactyly of the 5th finger, Brachydact... |
ORPHA:794 |
Hyperthyroidism, Nonautoimmune |
|
Hyperthyroidism, Increased circulating T4 concentration, Thyroid hyperplasia, Increased circulati... |
OMIM:609152 |
Waardenburg Syndrome, Type 1 |
|
Spina bifida, Myelomeningocele |
OMIM:193500 |
Eec Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the thymus, Decreased response to growth hormone s... |
ORPHA:1896 |
Phakomatosis Pigmentokeratotica |
|
Spina bifida |
ORPHA:2874 |
Bartsocas-Papas Syndrome 1 |
|
Short phalanx of finger, Patent foramen ovale, Absent thumb, Hypoplastic iliac wing, Short metaca... |
OMIM:263650 |
Histiocytoid Cardiomyopathy |
|
Cyanosis, Pulmonary edema |
ORPHA:137675 |
Microphthalmia, Lenz Type |
|
Camptodactyly of finger, Complete duplication of thumb phalanx, Finger syndactyly, Delayed erupti... |
ORPHA:568 |
Generalized Arterial Calcification Of Infancy |
|
Cyanosis, Polyhydramnios, Hydrops fetalis, Arterial calcification, Pericardial effusion, Calcific... |
ORPHA:51608 |
Orofaciodigital Syndrome Type 1 |
|
Pancreatic cysts, Short toe, Preaxial hand polydactyly, Finger syndactyly, Foot polydactyly, Hand... |
ORPHA:2750 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Pancreatic hypoplasia, Neonatal insulin-dependent... |
ORPHA:2255 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Broad first metatarsal, Atrioventricular canal defect, Polydactyly, Unbalanced atrioventricular c... |
OMIM:619534 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Polydactyly, Chiari malformation, Broad hallux, Widened distal phalanges, Patent foramen ovale, V... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Polydactyly, Chiari malformation, Broad hallux, Widened distal phalanges, Patent foramen ovale, V... |
ORPHA:353277 |
Non-Acquired Panhypopituitarism |
|
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Absence of ... |
ORPHA:90695 |
Cloacal Exstrophy |
|
Spina bifida, Myelomeningocele |
ORPHA:93929 |
Complete Atrioventricular Septal Defect |
|
Cyanosis |
ORPHA:1329 |
Lathosterolosis |
|
Meningocele, Intrauterine growth retardation |
ORPHA:46059 |
22Q11.2 Deletion Syndrome |
|
Meningocele, Patent ductus arteriosus, Ventricular septal defect, Truncus arteriosus, Spina bifid... |
ORPHA:567 |
Sclerosteosis 1 |
|
2-3 finger syndactyly, Abnormal pelvic girdle bone morphology, Syndactyly, Deviation of finger, C... |
OMIM:269500 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Syndactyly, Umbilical hernia |
OMIM:614520 |
Basal Cell Nevus Syndrome 1 |
|
Spina bifida, Hydrocephalus, Cardiac fibroma, Cardiac rhabdomyoma |
OMIM:109400 |
Fontaine Progeroid Syndrome |
|
Patent ductus arteriosus, Cerebellar hypoplasia, Bicuspid aortic valve, Hydrocephalus, Left ventr... |
OMIM:612289 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Brachydactyly, Communicating hydrocephalus, Decreased thalamic volume |
ORPHA:168577 |
Kbg Syndrome |
|
Clinodactyly of the 5th finger, Syndactyly, Single transverse palmar crease, Radial deviation of ... |
OMIM:148050 |
Vater/Vacterl Association |
|
Patent ductus arteriosus, Triphalangeal thumb, Ventricular septal defect, Spina bifida, Short thu... |
OMIM:192350 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Symphalangism affecting the phalanges of the hand, Aplastic clavicle, Finger syndactyly, Hypogona... |
ORPHA:2658 |
Witteveen-Kolk Syndrome |
|
Branchial fistula, Intrauterine growth retardation |
OMIM:613406 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Atrioventricular canal defect, Truncus arteriosus, Ventricular septal defect, Perimembranous vent... |
ORPHA:508498 |
Atrioventricular septal defect 3 |
|
Cyanosis |
OMIM:600309 |
Atrial Septal Defect, Ostium Secundum Type |
|
Cyanosis, Pedal edema |
ORPHA:99103 |
Williams Syndrome |
|
Hypothyroidism, Precocious puberty, Chiari malformation, Abnormal cardiac septum morphology, Hall... |
ORPHA:904 |
Pitt-Hopkins Syndrome |
|
Acrocyanosis, Failure of eruption of permanent teeth, Short neck, Growth delay, Postnatal growth ... |
ORPHA:2896 |
Orofaciodigital Syndrome Type 2 |
|
Short tibia, Atrioventricular canal defect, Broad first metatarsal, Finger syndactyly, Natal toot... |
ORPHA:2751 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Cyanosis, Palate telangiectasia, Gastrointestinal telangiectasia, Telangiectasia, Nail bed telang... |
OMIM:187300 |
Nail-Patella Syndrome |
|
Spina bifida |
OMIM:161200 |
Roberts-Sc Phocomelia Syndrome |
|
Wrist flexion contracture, Absent thumb, Tetraphocomelia, Elbow flexion contracture, Phocomelia, ... |
OMIM:268300 |
Neu-Laxova Syndrome |
|
Spina bifida, Intrauterine growth retardation |
ORPHA:2671 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Preaxial hand polydactyly, Exencephaly, Encephalocele, Finger syndactyly, Broad thumb, Broad hall... |
ORPHA:2211 |
Specc1L-Related Hypertelorism Syndrome |
|
Patent ductus arteriosus, Short toe, Ventricular septal defect, Finger syndactyly, Advanced erupt... |
ORPHA:1519 |
Long Qt Syndrome 8 |
|
Syndactyly |
OMIM:618447 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Short metacarpal, Camptodactyly, Absent palmar crease, Syndactyly, Cryptorchidism |
OMIM:614230 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Acrocyanosis, Growth delay |
OMIM:223900 |
Phocomelia, Schinzel Type |
|
Meningocele, Short neck, Intrauterine growth retardation |
ORPHA:2879 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Cyanosis, Palate telangiectasia, Nasal mucosa telangiectasia, Pulmonary arteriovenous malformatio... |
OMIM:610655 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Cyanosis, Palate telangiectasia, Gastrointestinal telangiectasia, Facial telangiectasia, Nail bed... |
OMIM:600376 |
Acute Bilirubin Encephalopathy |
|
Abnormal thalamic MRI signal intensity |
ORPHA:529799 |
Chronic Bilirubin Encephalopathy |
|
Abnormal thalamic MRI signal intensity |
ORPHA:529808 |
Limb-Mammary Syndrome |
|
Aplasia of the ovary, Toe syndactyly, Absent nipple, 3-4 finger cutaneous syndactyly, Breast apla... |
ORPHA:69085 |
Microphthalmia, Syndromic 6 |
|
Female hypogonadism, Hypothyroidism, Polydactyly, Contracture of thumb, Finger syndactyly, Cerebe... |
OMIM:607932 |
Myasthenia Gravis |
|
Acrocyanosis |
ORPHA:589 |
Cutis Marmorata Telangiectatica Congenita |
|
Patent ductus arteriosus, Hypothyroidism, Abnormality of the upper limb, Finger syndactyly, Toe s... |
ORPHA:1556 |
Incontinentia Pigmenti |
|
Camptodactyly of finger, Abnormal hand morphology, Finger syndactyly, Delayed eruption of teeth, ... |
ORPHA:464 |
Xq21 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Anterior hypopituitarism, Anterior pituita... |
ORPHA:1435 |
Dermatomyositis |
|
Cutaneous photosensitivity, Acrocyanosis, Periorbital edema, Edema, Erythema, Telangiectasia of t... |
ORPHA:221 |
Aicardi-Goutières Syndrome |
|
Short stature, Arrhinencephaly, Aortic aneurysm, Acrocyanosis, Cutis marmorata, Calcification of ... |
ORPHA:51 |
Doors Syndrome |
|
Triphalangeal thumb, Double outlet right ventricle, Short 5th finger, Abnormal finger morphology,... |
ORPHA:79500 |
Rapp-Hodgkin Syndrome |
|
Supernumerary nipple, Decreased number of sweat glands, 2-3 toe cutaneous syndactyly, Syndactyly,... |
OMIM:129400 |
Hutchinson-Gilford Progeria Syndrome |
|
Cyanosis, Prominent superficial blood vessels, Delayed eruption of teeth, Atherosclerosis, Premat... |
ORPHA:740 |
Familial Dysautonomia |
|
Acrocyanosis, Growth delay |
ORPHA:1764 |
Adult Syndrome |
|
Finger syndactyly, Toe syndactyly, Absent nipple, Split foot, Hypoplastic nipples, Breast hypoplasia |
ORPHA:978 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Abnormal size of pituitary gland, Decreased response to growth hormone stimulation test, Decrease... |
ORPHA:293978 |
Peters-Plus Syndrome |
|
Square pelvis bone, Short palm, Short toe, Ventricular septal defect, Hydrocephalus, Atrial septa... |
OMIM:261540 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Diffuse cerebellar atrophy, Hypothyroidism, Abnormal brainstem morphology |
ORPHA:93256 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Thyroid hypoplasi... |
OMIM:218700 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Camptodactyly, Clinodactyly of the 5th finger, Down-sloping shoulders, Metatarsus adductus, Synda... |
OMIM:227330 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Pancreatic cysts, Pancreatic hypoplasia, Elevated circulating thyroid-stimulating hormone concent... |
OMIM:610199 |
Unilateral Polymicrogyria |
|
Cyanosis, Pulmonary arteriovenous malformation |
ORPHA:268943 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Chiari malformation, Syndactyly, Holoprosencephaly, Cryptorchidism, Streak ovary, Dysplastic corp... |
OMIM:618820 |
Classical Ehlers-Danlos Syndrome |
|
Aortic root aneurysm, Blepharochalasis, Acrocyanosis, Bruising susceptibility, Ecchymosis, Fragil... |
ORPHA:287 |
Fraser Syndrome 3 |
|
Short toe, Hydrocephalus, Cutaneous syndactyly, Stillbirth |
OMIM:617667 |
Lacrimoauriculodentodigital Syndrome |
|
Patent ductus arteriosus, Absent thumb, Finger syndactyly, Toe syndactyly, Hypoplasia of the radi... |
ORPHA:2363 |
Hallermann-Streiff Syndrome |
|
Spina bifida, Natal tooth |
OMIM:234100 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Spina bifida, Atrioventricular canal defect, Torticollis, Patent ductus arteriosus |
OMIM:619480 |
Hypoglossia-Hypodactyly Syndrome |
|
Finger syndactyly, Aplasia/Hypoplasia of fingers, Upper limb phocomelia, Adactyly, Split hand, Br... |
ORPHA:989 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Toe syndactyly, Split hand, Finger syndactyly, Cryptorchidism |
ORPHA:1300 |
Bloom Syndrome |
|
Type II diabetes mellitus, Hand polydactyly, Clinodactyly of the 5th finger, Syndactyly, Cryptorc... |
OMIM:210900 |
Atrial Septal Defect, Coronary Sinus Type |
|
Cyanosis |
ORPHA:99104 |
Monosomy 13Q14 |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Clinodactyly of the 5th finger, Holoprosencep... |
ORPHA:1587 |
Saethre-Chotzen Syndrome |
|
Hallux valgus, Partial duplication of the distal phalanx of the 3rd finger, Toe syndactyly, Radio... |
OMIM:101400 |
Degcags Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Genu valgum, Preaxial hand polydactyly, Polydacty... |
OMIM:619488 |
Dubowitz Syndrome |
|
Delayed eruption of teeth, Clinodactyly of the 5th finger, Syndactyly, Single transverse palmar c... |
OMIM:223370 |
Cranioectodermal Dysplasia 2 |
|
Patent ductus arteriosus, Patent foramen ovale, Polydactyly, Clinodactyly, Left ventricular hyper... |
OMIM:613610 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Meningocele |
ORPHA:1010 |
Neurofibromatosis, Type I |
|
Spina bifida, Hydrocephalus, Aqueductal stenosis |
OMIM:162200 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Ventricular septal defect, Spina bifida, Bicuspid aortic valve, Hydrocephalus, Atrial septal defe... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Ventricular septal defect, Spina bifida, Bicuspid aortic valve, Hydrocephalus, Atrial septal defe... |
ORPHA:363958 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Genu varum, Abnormality of the thyroid gland, Finger syndactyly, Abnormal mitral valve morphology |
ORPHA:1969 |
Scalp-Ear-Nipple Syndrome |
|
2-3 toe syndactyly, Finger syndactyly, Lateral ventricle dilatation, 3-4 finger cutaneous syndact... |
OMIM:181270 |
Coffin-Siris Syndrome 12 |
|
Hip subluxation, Patent foramen ovale, Hypothyroidism, Noncommunicating hydrocephalus, Chiari mal... |
OMIM:619325 |
Autosomal Dominant Robinow Syndrome |
|
Camptodactyly of finger, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Coxa va... |
ORPHA:3107 |
Autoimmune Polyendocrinopathy Type 3 |
|
Thymoma, Autoimmune hypoparathyroidism, Anterior pituitary dysgenesis, Type I diabetes mellitus, ... |
ORPHA:227982 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Hallux valgus, Lateral ventricle dilatation, Delayed eruption of teeth, Camptodactyly, Broad hall... |
ORPHA:261537 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Camptodactyly of finger, Finger swelling, Elevated circulating thyroid-stimulating hormone concen... |
OMIM:256040 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Abnormality of the anterior pituitary, Increased ... |
ORPHA:438213 |
Split Cord Malformation |
|
Meningocele, Myelomeningocele, Hydrocephalus, Cervical spina bifida, Lipomyelomeningocele |
ORPHA:573278 |
Autoimmune Polyendocrinopathy Type 4 |
|
Thymoma, Anterior pituitary dysgenesis, Type I diabetes mellitus, Primary adrenal insufficiency, ... |
ORPHA:227990 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Pericardial effusion, Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentrat... |
OMIM:618183 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Finger syndactyly, Ventricular septal defect, Delayed eruption of teeth, Clinodactyly of the 5th ... |
ORPHA:1071 |
Monosomy 22 |
|
Finger syndactyly, Clinodactyly of the 5th finger, Clubbing, Single transverse palmar crease, Apl... |
ORPHA:96123 |
Campomelic Dysplasia |
|
Spina bifida, Abnormal heart morphology, Spinal dysraphism, Hydrocephalus |
OMIM:114290 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
2-3 toe syndactyly, Aortopulmonary window, Ventricular septal defect, Finger syndactyly, Clinodac... |
OMIM:620025 |
Knobloch Syndrome 1 |
|
Spina bifida occulta, Occipital encephalocele, Occipital meningocele, Patent ductus arteriosus |
OMIM:267750 |
Orofaciodigital Syndrome Type 4 |
|
Camptodactyly of finger, Genu varum, Aplasia/Hypoplasia of the tibia, Preaxial hand polydactyly, ... |
ORPHA:2753 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Hallux valgus, Lateral ventricle dilatation, Delayed eruption of teeth, Camptodactyly, Broad hall... |
ORPHA:261552 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Patent ductus arteriosus, Cyanosis, Double aortic arch, Pulmonary artery atresia |
ORPHA:216694 |
Aicardi Syndrome |
|
Spina bifida |
OMIM:304050 |
Marfan Syndrome |
|
Meningocele, Mitral valve prolapse, Mitral valve calcification |
ORPHA:558 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Subvalvular aortic stenosis, Hip subluxation, Tapered finger, Delayed eruption of teeth, Elbow fl... |
OMIM:619503 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Syndactyly, Unilateral brachydactyly, Aplasia/Hypoplasia involving the shoulder musculature, Supe... |
ORPHA:1521 |
Postinfectious Vasculitis |
|
Cutis marmorata, Palpable purpura, Acrocyanosis, Vasculitis in the skin |
ORPHA:48435 |
Mckusick-Kaufman Syndrome |
|
Congenital hip dislocation, Syndactyly, Cryptorchidism, Postaxial hand polydactyly, Mesoaxial han... |
OMIM:236700 |
Angioosteohypertrophic Syndrome |
|
Finger syndactyly, Hand polydactyly, Hemihypertrophy of upper limb, Hand oligodactyly, Macrodacty... |
ORPHA:2346 |
Proteus Syndrome |
|
Metatarsus valgus, Diabetes insipidus, Macroorchidism, Neoplasm of the thymus, Enlarged polycysti... |
ORPHA:744 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Hip subluxation, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Short metacarpa... |
OMIM:150230 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Finger syndactyly, Clinodactyly of the 5th finger, Down-sloping shoulders, Brachydactyly, Short foot |
ORPHA:1974 |
Mowat-Wilson Syndrome |
|
Tapered finger, Hallux valgus, Abnormal cardiac septum morphology, Delayed eruption of teeth, Cam... |
ORPHA:2152 |
Primary Hyperoxaluria |
|
Acrocyanosis, Cutis marmorata |
ORPHA:416 |
Microform Holoprosencephaly |
|
Hypothyroidism, Maternal diabetes, Panhypopituitarism, Holoprosencephaly, Tetralogy of Fallot, In... |
ORPHA:280200 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Syndactyly |
OMIM:224120 |
Exstrophy-Epispadias Complex |
|
Spina bifida, Hydrocephalus, Abnormal heart morphology |
ORPHA:322 |
Bickerstaff Brainstem Encephalitis |
|
Abnormal thalamic MRI signal intensity |
ORPHA:79138 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Patent ductus arteriosus, Cyanosis, Coarctation of aorta, Hypoplastic aortic arch, Pulmonary arte... |
ORPHA:99125 |
Coffin-Lowry Syndrome |
|
Acrocyanosis, Cutis marmorata, Short stature |
OMIM:303600 |
Woodhouse-Sakati Syndrome |
|
Elevated circulating thyroid-stimulating hormone concentration, Decreased testicular size, Diabet... |
OMIM:241080 |
Otopalatodigital Syndrome, Type Ii |
|
Spina bifida, Hydrocephalus, Atrial septal defect, Short neck, Umbilical hernia |
OMIM:304120 |
Norrie Disease |
|
Aplasia/Hypoplasia of the cerebellum, Diabetes mellitus, Delayed puberty, Cryptorchidism, Abnorma... |
ORPHA:649 |
Igg4-Related Ophthalmic Disease |
|
Abnormality of the anterior pituitary, Sialadenitis, Thyroiditis, Enlarged lacrimal glands, Orchitis |
ORPHA:449563 |
Fraser Syndrome |
|
Myelomeningocele, Encephalocele, Wide pubic symphysis, Finger syndactyly, Toe syndactyly, Cryptor... |
ORPHA:2052 |
Hypermobile Ehlers-Danlos Syndrome |
|
Ascending tubular aorta aneurysm, Acrocyanosis, Umbilical hernia |
ORPHA:285 |
Goodpasture Syndrome |
|
Cyanosis |
OMIM:233450 |
Igg4-Related Kidney Disease |
|
Pericarditis, Thyroiditis, Abnormality of the anterior pituitary, Sialadenitis |
ORPHA:449395 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Occipital meningocele, Short neck, Broad neck |
OMIM:276820 |
Kallmann Syndrome |
|
Anterior hypopituitarism, Decreased testicular size, Hypothalamic gonadotropin-releasing hormone ... |
ORPHA:478 |
Pmm2-Cdg |
|
Increased circulating prolactin concentration, Hyperinsulinemia, Elevated circulating thyroid-sti... |
ORPHA:79318 |
Microphthalmia, Syndromic 1 |
|
Abnormal palmar dermatoglyphics, Joint contracture of the hand, Bicuspid aortic valve, Clinodacty... |
OMIM:309800 |
Alström Syndrome |
|
Precocious puberty in females, Short toe, Hyperinsulinemia, Elevated circulating thyroid-stimulat... |
ORPHA:64 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Eunuchoid habitus |
ORPHA:432 |