| Synpolydactyly 1 |
|
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... |
OMIM:186000 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
| Polydactyly, Preaxial Ii |
|
Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... |
OMIM:174500 |
| 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 |
| Syndactyly Type 2 |
|
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... |
ORPHA:93403 |
| Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab... |
ORPHA:3246 |
| Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Delayed epiphyseal ossification, Genu valgum, Cutaneous syndactyly, Molar tooth sign on MRI, Clin... |
ORPHA:166024 |
| Polydactyly, Postaxial, Type A1 |
|
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... |
OMIM:174200 |
| Lambert Syndrome |
|
Intrauterine growth retardation, Branchial anomaly, Ventricular septal defect |
ORPHA:1296 |
| Syndactyly, Type Iii |
|
Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger |
OMIM:186100 |
| Septopreoptic Holoprosencephaly |
|
Abnormal midbrain morphology, Hypoplasia of the pons, Precocious puberty, Rhombencephalosynapsis,... |
ORPHA:280195 |
| Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
| Syndactyly Type 1 |
|
Finger syndactyly, Toe syndactyly, Symphalangism affecting the phalanges of the hand |
ORPHA:93402 |
| Bullous Dystrophy, Hereditary Macular Type |
|
Severe short stature, Acrocyanosis, Death in childhood |
OMIM:302000 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Syndactyly, Upper limb phocomelia, Abnormal heart morphology, Stillbirth, Polydactyly, Abnormal c... |
ORPHA:294975 |
| Intellectual Disability-Spasticity-Ectrodactyly Syndrome |
|
Finger syndactyly, Abnormality of the upper limb, Abnormal hip bone morphology, Clinodactyly of t... |
ORPHA:1891 |
| Leptin Receptor Deficiency |
|
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... |
OMIM:614963 |
| Joubert Syndrome 18 |
|
Occipital encephalocele, Trident pelvis, Bowing of the long bones, Ventricular septal defect, Age... |
OMIM:614815 |
| Triphalangeal Thumb With Polysyndactyly |
|
Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br... |
OMIM:190605 |
| Hallux Varus And Preaxial Polysyndactyly |
|
Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus |
OMIM:234280 |
| Orofaciodigital Syndrome Xv |
|
Cerebellar vermis hypoplasia, Broad hallux, Postaxial hand polydactyly, Duplication of phalanx of... |
OMIM:617127 |
| Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
| Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
2-4 toe syndactyly, Male hypogonadism, Syndactyly |
OMIM:241000 |
| Meckel Syndrome, Type 4 |
|
Encephalocele, Atrial septal defect, Bowing of the long bones, Agenesis of cerebellar vermis, Ven... |
OMIM:611134 |
| Hydrolethalus Syndrome 2 |
|
Postaxial hand polydactyly, Hydrocephalus, Anencephaly, Postaxial foot polydactyly, Molar tooth s... |
OMIM:614120 |
| Congenital Radioulnar Synostosis |
|
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... |
ORPHA:3269 |
| Joubert Syndrome 36 |
|
Molar tooth sign on MRI, Mesoaxial hand polydactyly |
OMIM:618763 |
| Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
| Syndactyly, Type Iv |
|
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... |
OMIM:186200 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Syndactyly, Postaxial hand polydactyly, Hydrocephalus |
OMIM:615938 |
| Joubert Syndrome 22 |
|
Agenesis of cerebellar vermis, Postaxial hand polydactyly, 2-3 toe syndactyly, Postaxial foot pol... |
OMIM:615665 |
| Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
| Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
| Joubert Syndrome 10 |
|
Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Postaxial polydactyly |
OMIM:300804 |
| Syndactyly Type 5 |
|
Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Metacarpal synostosis, Cl... |
ORPHA:93406 |
| Wahab Syndrome |
|
Syndactyly, Short metacarpal, Short thumb, Short foot, Short palm, Clinodactyly, Camptodactyly, A... |
OMIM:615170 |
| Joubert Syndrome 16 |
|
Encephalocele, Polydactyly, Molar tooth sign on MRI, Dandy-Walker malformation |
OMIM:614465 |
| Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
| Meckel Syndrome, Type 10 |
|
Dilated fourth ventricle, Occipital encephalocele, Ulnar deviation of the hand, Postaxial polydac... |
OMIM:614175 |
| Camptosynpolydactyly, Complex |
|
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly |
OMIM:607539 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Hip dysplasia |
ORPHA:71289 |
| Duplication Of The Pituitary Gland |
|
Encephalocele, Abnormal midbrain morphology, Abnormal pituitary gland morphology, Abnormal hypoth... |
ORPHA:314621 |
| Slc35A2-Cdg |
|
Cerebellar atrophy, Abnormal midbrain morphology, Abnormality of the hand, Coxa valga, Precocious... |
ORPHA:356961 |
| Intellectual Developmental Disorder, Autosomal Recessive 33 |
|
Syndactyly, Short toe |
OMIM:614341 |
| Meckel Syndrome 13 |
|
Molar tooth sign on MRI, Occipital encephalocele, Cerebellar hypoplasia |
OMIM:617562 |
| Joubert Syndrome 32 |
|
Abnormal cerebellum morphology, Postaxial hand polydactyly, Postaxial foot polydactyly, Molar too... |
OMIM:617757 |
| Polydactyly, Postaxial, Type A5 |
|
Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis |
OMIM:263450 |
| Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
| Neurodevelopmental Disorder With Seizures And Brain Atrophy |
|
Cerebellar hypoplasia, Rocker bottom foot, Hypoplasia of the brainstem, Decreased thalamic volume |
OMIM:619072 |
| Syndactyly Type 3 |
|
Finger syndactyly, Short toe, Camptodactyly of finger |
ORPHA:93404 |
| Congenital Heart Block |
|
Cyanosis, Pericardial effusion, Patent ductus arteriosus, Hydrops fetalis, Peripheral edema, Intr... |
ORPHA:60041 |
| Crossed Polysyndactyly |
|
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyly |
ORPHA:2935 |
| Joubert Syndrome 30 |
|
Cerebellar atrophy, Postaxial hand polydactyly, Molar tooth sign on MRI, Superior cerebellar dysp... |
OMIM:617622 |
| Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
|
Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th... |
ORPHA:157801 |
| 20Q11.2 Microdeletion Syndrome |
|
Brachydactyly, Brainstem dysplasia, Finger clinodactyly, Camptodactyly, Intrauterine growth retar... |
ORPHA:444051 |
| Split-Hand/Foot Malformation 4 |
|
Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th... |
OMIM:605289 |
| Craniopharyngioma |
|
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Hydr... |
ORPHA:54595 |
| Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction |
|
Aplasia/Hypoplasia of the thumb, Single transverse palmar crease, Aplasia/Hypoplasia of the middl... |
OMIM:609432 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ventricular septal defect, Hypoplastic left heart, Anencephaly, Spina bifida |
ORPHA:2476 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hypoplasia of the pons, Hydrocephalus, Midline brainstem cleft, Fusion of the left and right thal... |
OMIM:617542 |
| Joubert Syndrome 20 |
|
Molar tooth sign on MRI, 4-5 toe syndactyly, Postaxial polydactyly |
OMIM:614970 |
| Joubert Syndrome 25 |
|
Molar tooth sign on MRI, Cerebellar hypoplasia |
OMIM:616781 |
| Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Hydrocephalus, H... |
OMIM:241800 |
| Joubert Syndrome 7 |
|
Encephalocele, Brainstem dysplasia, Postaxial polydactyly, Postaxial hand polydactyly, Genu valgu... |
OMIM:611560 |
| Pituicytoma |
|
Hypopituitarism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation ... |
ORPHA:251623 |
| Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
| Branchiootic Syndrome 3 |
|
Branchial cyst |
OMIM:608389 |
| Spinal Muscular Atrophy With Mental Retardation |
|
Syndactyly |
OMIM:271109 |
| Acropectoral Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly |
ORPHA:85203 |
| Bardet-Biedl Syndrome 5 |
|
Syndactyly, Hypogonadism, Polydactyly, Brachydactyly |
OMIM:615983 |
| Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula |
OMIM:609166 |
| Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
| Heart-Hand Syndrome, Slovenian Type |
|
Syndactyly, Dilated cardiomyopathy, Aplasia of the middle phalanx of the hand, Clinodactyly, Brac... |
OMIM:610140 |
| Acropectorovertebral Dysplasia |
|
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... |
OMIM:102510 |
| Greig Cephalopolysyndactyly Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Postaxial han... |
ORPHA:380 |
| Split-Hand/Foot Malformation 1 |
|
Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly, Ectrodact... |
OMIM:183600 |
| Orofaciodigital Syndrome Vi |
|
Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxial polydactyly, Ce... |
OMIM:277170 |
| Al-Gazali-Bakalinova Syndrome |
|
Epiphyseal dysplasia, Tapered finger, Flattened epiphysis, Genu valgum, Polydactyly, Molar tooth ... |
OMIM:607131 |
| Joubert Syndrome 15 |
|
Molar tooth sign on MRI, Preaxial polydactyly, Exencephaly |
OMIM:614464 |
| Gómez-López-Hernández Syndrome |
|
Abnormal cerebellum morphology, Hydrocephalus, Cerebellar vermis hypoplasia, Abnormal brainstem m... |
ORPHA:1532 |
| X-Linked Mandibulofacial Dysostosis |
|
Abnormal mitral valve morphology, Branchial anomaly, Pulmonic stenosis, Webbed neck |
ORPHA:1131 |
| Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Dextrocardia, Supernumerary nipple, Cryptorchidism, Interhypothalamic adhesion, Atrioventricular ... |
OMIM:618929 |
| Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... |
ORPHA:93405 |
| Liebenberg Syndrome |
|
Metaphyseal widening, Elbow flexion contracture, Abnormal carpal morphology, 2-3 finger syndactyl... |
OMIM:186550 |
| Congenital Pulmonary Lymphangiectasia |
|
Cyanosis, Hydrops fetalis, Chylopericardium, Growth delay, Pleural effusion, Ascites |
ORPHA:2414 |
| Joubert Syndrome 33 |
|
Molar tooth sign on MRI, Syndactyly |
OMIM:617767 |
| Joubert Syndrome 4 |
|
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia, Th... |
OMIM:609583 |
| Chromosome 2Q35 Duplication Syndrome |
|
Distal symphalangism of hands, 3-4 finger syndactyly, 2-3 toe syndactyly, Cutaneous syndactyly |
OMIM:185900 |
| 15Q11Q13 Microduplication Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly |
ORPHA:238446 |
| Dystonia 30 |
|
Hypothalamic hamartoma |
OMIM:619291 |
| Ectrodactyly-Polydactyly Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t... |
ORPHA:1892 |
| Neuralgic Amyotrophy |
|
Acrocyanosis, Short stature |
ORPHA:2901 |
| Joubert Syndrome 40 |
|
Molar tooth sign on MRI, Postaxial polydactyly |
OMIM:619582 |
| Brachydactyly-Syndactyly Syndrome |
|
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... |
OMIM:610713 |
| Perching Syndrome |
|
Cyanosis |
OMIM:617055 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Abnormality of the elbow |
ORPHA:3268 |
| Amoebiasis Due To Free-Living Amoebae |
|
Myocardial necrosis, Abnormal medulla oblongata morphology, Abnormal midbrain morphology, Abnorma... |
ORPHA:68 |
| Syndactyly, Type V |
|
Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p... |
OMIM:186300 |
| Verheij Syndrome |
|
Branchial cyst, Ventricular septal defect, Short neck, Intrauterine growth retardation, Truncus a... |
OMIM:615583 |
| Coach Syndrome 2 |
|
Molar tooth sign on MRI, Hydrocephalus, Cerebellar vermis hypoplasia, Agenesis of corpus callosum |
OMIM:619111 |
| Santos Syndrome |
|
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... |
OMIM:613005 |
| Phosphoserine Aminotransferase Deficiency |
|
Death in infancy, Cyanotic episode |
OMIM:610992 |
| Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Spina bifida, Mitral valve prolapse |
OMIM:211960 |
| Polydactyly, Preaxial Iv |
|
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... |
OMIM:174700 |
| Joubert Syndrome 39 |
|
Occipital encephalocele, Cerebellar vermis hypoplasia, Postaxial polydactyly, Hypoplastic left he... |
OMIM:619562 |
| Acalvaria |
|
Hydrocephalus, Holoprosencephaly, Spina bifida |
ORPHA:945 |
| Wildervanck Syndrome |
|
Webbed neck, Meningocele, Low posterior hairline, Short neck |
ORPHA:3456 |
| Split-Hand/Foot Malformation 6 |
|
Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly |
OMIM:225300 |
| Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Occipital encephalocele, Fusion of the cerebellar hemispheres, Olivopon... |
ORPHA:370959 |
| Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Camptodactyly of finger, Aplasia/Hypoplasia of the cerebellum, Holoprosencephaly, Hydranencephaly... |
ORPHA:2570 |
| Hemihyperplasia, Isolated |
|
Myelomeningocele |
OMIM:235000 |
| Carpenter Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, Cryptorchidism, Postaxial hand polydactyly, Patent... |
ORPHA:65759 |
| Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome |
|
2-4 finger syndactyly, 1-4 finger syndactyly, Split hand, 2-3 finger syndactyly, Camptodactyly, J... |
OMIM:225280 |
| Branchiootic Syndrome 1 |
|
Branchial fistula |
OMIM:602588 |
| Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Aplasia/Hypoplasia of toe, Syndactyly, Duplication of metatarsal bones, Cutaneous finger syndactyly |
OMIM:600384 |
| Pituitary Adenoma 1, Multiple Types |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul... |
OMIM:102200 |
| Seizures, Benign Familial Infantile, 3 |
|
Cyanosis |
OMIM:607745 |
| Tubulinopathy-Associated Dysgyria |
|
Hypoplasia of the pons, Abnormal thalamus morphology, Cerebellar vermis hypoplasia, Abnormal brai... |
ORPHA:467166 |
| Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy |
|
Hypoplasia of the brainstem, Decreased thalamic volume |
OMIM:613668 |
| Greig Cephalopolysyndactyly Syndrome |
|
Broad hallux phalanx, Broad hallux, 1-3 toe syndactyly, Cryptorchidism, Preaxial hand polydactyly... |
OMIM:175700 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Cerebellar vermis hypoplasia, Proximal femoral metaphyseal irregularity,... |
ORPHA:397715 |
| Brachydactyly Type B |
|
Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas... |
ORPHA:93383 |
| Joubert Syndrome 14 |
|
Encephalocele, Cerebellar vermis hypoplasia, Ventricular septal defect, Agenesis of cerebellar ve... |
OMIM:614424 |
| Seizures, Benign Familial Infantile, 1 |
|
Cyanosis |
OMIM:601764 |
| Thoraco-Abdominal Enteric Duplication |
|
Meningocele, Abnormal tricuspid valve morphology, Dextrocardia |
ORPHA:1759 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Single transverse palmar crease, 2-3 toe syndactyly, Cutaneous syndactyly, Hypoplasia of the brai... |
OMIM:236500 |
| Central Precocious Puberty In Male |
|
Abnormality of the testis size, Pituitary microadenoma, Hydrocephalus, Hypothalamic hamartoma, Ab... |
ORPHA:649929 |
| Joubert Syndrome 17 |
|
Molar tooth sign on MRI, Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly |
OMIM:614615 |
| Boomerang Dysplasia |
|
Finger syndactyly, Abnormal morphology of the radius, Decreased response to growth hormone stimul... |
ORPHA:1263 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
| Cyanosis, Transient Neonatal |
|
Jaundice, Cyanosis |
OMIM:613977 |
| Joubert Syndrome 3 |
|
Atrial septal defect, Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Molar tooth sig... |
OMIM:608629 |
| Ritscher-Schinzel Syndrome 1 |
|
Syndactyly, Ventricular septal defect, Decreased response to growth hormone stimulation test, Adr... |
OMIM:220210 |
| Joubert Syndrome With Ocular Defect |
|
Encephalocele, Cerebellar vermis hypoplasia, Dextrocardia, Hydrocephalus, Hand polydactyly, Foot ... |
ORPHA:220493 |
| Brachydactyly, Type B1 |
|
Type B brachydactyly, Syndactyly, Ventricular septal defect, Aplasia/Hypoplasia of the distal pha... |
OMIM:113000 |
| Orofaciodigital Syndrome Type 6 |
|
Syndactyly, Mesoaxial polydactyly, Cerebellar vermis hypoplasia, Bilateral cryptorchidism, Centra... |
ORPHA:2754 |
| Brachydactyly Type B2 |
|
Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ... |
ORPHA:140908 |
| Joubert Syndrome 38 |
|
Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Cerebellar vermis hypo... |
OMIM:619476 |
| Neural Tube Defects, Susceptibility To |
|
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus |
OMIM:182940 |
| Joubert Syndrome 27 |
|
Molar tooth sign on MRI, Polydactyly |
OMIM:617120 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Hypothalamic atrophy, Lateral ventricle dilatation, Abnormal substantia nigra morphology |
ORPHA:2822 |
| Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
| Gangliocytoma |
|
Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal cerebell... |
ORPHA:251937 |
| Isolated Klippel-Feil Syndrome |
|
Congenital muscular torticollis, Ventricular septal defect, Spina bifida, Short neck, Low posteri... |
ORPHA:2345 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ventricular septal defect, Hypoplasia of ... |
OMIM:619306 |
| Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Hand polydactyly, Foot polydactyly, M... |
ORPHA:2318 |
| Tricuspid Atresia |
|
Pulmonary artery atresia, Cyanosis, Coarctation of aorta |
ORPHA:1209 |
| Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
| Gordon Syndrome |
|
Clinodactyly of the 5th finger, Cryptorchidism, Finger syndactyly, Camptodactyly of finger |
ORPHA:376 |
| Joubert Syndrome 6 |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Bile duct pr... |
OMIM:610688 |
| Pituitary Carcinoma |
|
Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro... |
ORPHA:300385 |
| Joubert Syndrome With Renal Defect |
|
Encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Hand polydactyly, Molar tooth sign on... |
ORPHA:220497 |
| Branchiogenic Deafness Syndrome |
|
Branchial cyst, Branchial fistula |
ORPHA:50815 |
| Split-Hand/Foot Malformation 2 |
|
Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger |
OMIM:313350 |
| Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Ventricular septal defect, Aplasia/Hypoplasia of the cerebellar vermis, Postaxial hand polydactyl... |
ORPHA:75389 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Encephalocele, Natal tooth, Rhizomelia, Postaxial polydactyly, Cryptorchidism, Patent ductus arte... |
OMIM:616300 |
| Brachydactyly, Type B2 |
|
Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the distal phalanges of the... |
OMIM:611377 |
| Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
| Proximal Symphalangism |
|
Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ... |
ORPHA:3250 |
| Femur-Fibula-Ulna Complex |
|
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi... |
ORPHA:2019 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Cyanosis |
ORPHA:91130 |
| X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Branchial cyst |
ORPHA:435938 |
| Giant Axonal Neuropathy |
|
Abnormal hand morphology, Abnormal cerebellum morphology, Abnormal pituitary gland morphology, Ge... |
ORPHA:643 |
| Isolated Hemihyperplasia |
|
Myelomeningocele |
ORPHA:2128 |
| Joubert Syndrome 35 |
|
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia, Si... |
OMIM:618161 |
| Joubert Syndrome 2 |
|
Encephalocele, Agenesis of cerebellar vermis, Brainstem dysplasia, Postaxial hand polydactyly, Hy... |
OMIM:608091 |
| Moebius Syndrome |
|
Syndactyly, Brachydactyly, Hypogonadotropic hypogonadism, Split hand, Hypoplasia of the brainstem... |
OMIM:157900 |
| Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Brachydactyly, Single transverse palmar crease, Bifid distal phalanx of the thumb, Triangular sha... |
ORPHA:370010 |
| Rhombencephalosynapsis |
|
Finger syndactyly, Fusion of the cerebellar hemispheres, Agenesis of cerebellar vermis, Hydroceph... |
ORPHA:59315 |
| 3P25.3 Microdeletion Syndrome |
|
Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered finger, Postaxial polydactyly... |
ORPHA:435638 |
| Joubert Syndrome 9 |
|
Encephalocele, Molar tooth sign on MRI |
OMIM:612285 |
| Acropectorovertebral Dysplasia |
|
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Spina bifida, Triphalangeal thumb,... |
ORPHA:957 |
| Joubert Syndrome 37 |
|
Cerebellar vermis hypoplasia, Postaxial polydactyly, Cryptorchidism, Molar tooth sign on MRI, Dec... |
OMIM:619185 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Cyanosis |
ORPHA:71277 |
| Alexander Disease Type I |
|
Cerebellar atrophy, Hydrocephalus, Abnormal thalamic MRI signal intensity |
ORPHA:363717 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Finger syndactyly, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the fibula, Abnormal ... |
ORPHA:2141 |
| Holt-Oram Syndrome |
|
Secundum atrial septal defect, Aplasia of the pectoralis major muscle, Abnormal carpal morphology... |
OMIM:142900 |
| Filippi Syndrome |
|
Cerebellar atrophy, Ventricular septal defect, Single transverse palmar crease, 2-4 toe syndactyl... |
OMIM:272440 |
| Subependymal Nodular Heterotopia |
|
Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele |
ORPHA:101030 |
| Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Agenesis of corpus callosum, Abnormal brainstem morphology, Abnormal cerebellum morphology |
ORPHA:255182 |
| Bardet-Biedl Syndrome 4 |
|
Syndactyly, Cryptorchidism, Hypogonadism, Polydactyly, Brachydactyly |
OMIM:615982 |
| Fryns Microphthalmia Syndrome |
|
Neural tube defect |
OMIM:600776 |
| Joubert Syndrome 31 |
|
Molar tooth sign on MRI |
OMIM:617761 |
| Cerebellofaciodental Syndrome |
|
Ventricular septal defect, Single transverse palmar crease, Tapered finger, Hypoplasia of the pon... |
OMIM:616202 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Atrial septal defect, Cerebellar vermis hypoplasia, Micromelia, Aplastic clavicle, Postaxial poly... |
OMIM:616546 |
| Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Cerebellar dysplasia, Dilated fourth ventricle, Elongated superior cerebellar peduncle, Abnormal ... |
ORPHA:370022 |
| Aminopterin Syndrome Sine Aminopterin |
|
Syndactyly, Brachydactyly, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Cryptorchi... |
OMIM:600325 |
| Holt-Oram Syndrome |
|
Finger syndactyly, Atrial septal defect, Ventricular septal defect, Down-sloping shoulders, Absen... |
ORPHA:392 |
| Alkuraya-Kucinskas Syndrome |
|
Cerebellar dysplasia, Overlapping toe, Pericardial effusion, Hydrocephalus, Cutaneous syndactyly,... |
OMIM:617822 |
| Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Arachnodactyly, Hydrocephalus, Abnormal brainstem morphology, Abnormal hip bone morphology, Aplas... |
ORPHA:2720 |
| Periventricular Nodular Heterotopia 1 |
|
Syndactyly, Bicuspid aortic valve, Patent ductus arteriosus, Cerebellar hypoplasia, Short finger,... |
OMIM:300049 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Abnormal heart m... |
ORPHA:453499 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Ventricular septal defect, Situs inversus totalis, Hydrocephalus, Meningocele, Ane... |
ORPHA:1908 |
| Pfeiffer Syndrome Type 1 |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short h... |
ORPHA:93258 |
| Terminal Osseous Dysplasia |
|
Syndactyly, Camptodactyly of finger, Abnormal hand bone ossification, Short toe, Mesomelic arm sh... |
OMIM:300244 |
| Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Short humerus, Trident pelvis, Bowed humerus, Short long bone, Lateral ventricle dilatation, Dysg... |
OMIM:619479 |
| Craniorachischisis |
|
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism |
ORPHA:63260 |
| Cach Syndrome |
|
Cerebellar atrophy, T2 hypointense thalamus, Abnormal pons morphology, Lateral ventricle dilatati... |
ORPHA:135 |
| Joubert Syndrome 1 |
|
Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Brainstem dysplasia, Clinodactyly, P... |
OMIM:213300 |
| Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... |
OMIM:146510 |
| Nevus Comedonicus Syndrome |
|
Spina bifida occulta, Spina bifida |
ORPHA:64754 |
| Mesomelic Dysplasia, Nievergelt Type |
|
Finger syndactyly, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elbow dislocation,... |
ORPHA:2633 |
| Ring Chromosome 21 Syndrome |
|
Syndactyly, Narrow palm, Small hand, Abnormal heart morphology, Holoprosencephaly, Clinodactyly, ... |
ORPHA:1445 |
| Cerebellar-Facial-Dental Syndrome |
|
Ventricular septal defect, Single transverse palmar crease, Abnormal midbrain morphology, Tapered... |
ORPHA:444072 |
| Polymicrogyria Due To Tubb2B Mutation |
|
Cerebellar atrophy, Hypoplasia of the pons, Abnormal brainstem morphology, Lateral ventricle dila... |
ORPHA:300573 |
| Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Thickened nuchal skin fold, Intrauterine growth retardation, Cyanotic episode, Short neck |
ORPHA:284417 |
| Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
|
Cerebellar calcifications, Thalamic calcification |
OMIM:618824 |
| Meckel Syndrome, Type 2 |
|
Encephalocele, Meningocele, Anencephaly, Intrauterine growth retardation, Cystic hygroma |
OMIM:603194 |
| Fibular Hemimelia |
|
Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Arthralgia of the hip, Finger ... |
ORPHA:93323 |
| 47,Xyy Syndrome |
|
Cryptorchidism, Increased circulating gonadotropin level, Hydrocephalus, Abnormal brainstem morph... |
ORPHA:8 |
| Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Syndactyly, Osteolysis involving bones of the upper limbs, Osteolysis involving bones of the lowe... |
ORPHA:88630 |
| Schisis Association |
|
Encephalocele, Anencephaly, Spina bifida |
ORPHA:63862 |
| Branchiootic Syndrome |
|
Branchial fistula |
ORPHA:52429 |
| Aplasia Cutis Congenita |
|
Finger syndactyly, Toe syndactyly, Spinal dysraphism |
ORPHA:1114 |
| Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 |
|
Decreased thalamic volume |
OMIM:618646 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Finger syndactyly, Aqueductal stenosis, Hand oligodactyly, Fibular hypoplasia, Abnormal pelvic gi... |
ORPHA:1788 |
| Joubert Syndrome 28 |
|
Molar tooth sign on MRI |
OMIM:617121 |
| Basal Ganglia Calcification, Idiopathic, 5 |
|
Cerebellar calcifications, Thalamic calcification |
OMIM:615483 |
| Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad... |
ORPHA:2378 |
| Diaphanospondylodysostosis |
|
Myelomeningocele, Short neck |
ORPHA:66637 |
| Benign Familial Infantile Epilepsy |
|
Cyanosis |
ORPHA:306 |
| Ravine Syndrome |
|
Abnormal brainstem morphology, Atrophy/Degeneration affecting the brainstem |
ORPHA:99852 |
| Sclerosteosis |
|
Finger syndactyly, 2-3 finger syndactyly, Diaphyseal thickening, Curved distal phalanges of the hand |
ORPHA:3152 |
| Meckel Syndrome, Type 1 |
|
Occipital encephalocele, Adrenal hypoplasia, Molar tooth sign on MRI, Agenesis of corpus callosum... |
OMIM:249000 |
| Coach Syndrome 1 |
|
Encephalocele, Occipital encephalocele, Cerebellar vermis hypoplasia, Aplasia/Hypoplasia of the c... |
OMIM:216360 |
| High Altitude Pulmonary Edema |
|
Hypoxemia, Cyanosis, Pulmonary edema |
ORPHA:330012 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Cerebellar vermis hypoplasia, Metatarsus adductus, Partial agenesis of the corpus callosum, Small... |
ORPHA:300570 |
| Pfeiffer Syndrome Type 2 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hallux varus, Aqueductal s... |
ORPHA:93259 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Death in infancy, Cyanosis, Right aortic arch, Interrupted aortic arch, Webbed neck, Truncus arte... |
OMIM:617478 |
| Oculoskeletodental Syndrome |
|
Metaphyseal dysplasia, Dysplastic corpus callosum, Short 5th finger, Hypoplasia of the capital fe... |
ORPHA:557003 |
| Bor Syndrome |
|
Branchial cyst |
ORPHA:107 |
| Monosomy 5P |
|
Intrauterine growth retardation, Finger syndactyly, Small hand |
ORPHA:281 |
| Chiari Malformation Type Ii |
|
Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida |
OMIM:207950 |
| Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome |
|
Finger syndactyly, Proximal placement of thumb, Abnormal thumb morphology, Delayed puberty, Abnor... |
ORPHA:1825 |
| Humero-Radial Synostosis |
|
Meningocele |
ORPHA:3265 |
| Caudal Duplication |
|
Myelomeningocele, Spina bifida |
ORPHA:1756 |
| Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Clinodactyly of the 5th finger, Syndactyly, Tapered finger |
OMIM:618725 |
| Japanese Encephalitis |
|
Abnormal substantia nigra morphology, Abnormal midbrain morphology, Elbow flexion contracture, Ab... |
ORPHA:79139 |
| Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
| Panhypophysitis |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot... |
ORPHA:95513 |
| Coach Syndrome 3 |
|
Molar tooth sign on MRI |
OMIM:619113 |
| Cleft-Limb-Heart Malformation Syndrome |
|
Syndactyly, Truncus arteriosus |
OMIM:215850 |
| Summitt Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Genu valgum, Short palm, Clinodactyly of the 5th fing... |
ORPHA:3210 |
| Summitt Syndrome |
|
Syndactyly |
OMIM:272350 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Ventricular septal defect, Postaxial polydactyly, Cryptorchidism, 2-3 toe syndactyly, Abnormal he... |
ORPHA:404440 |
| X-Linked Acrogigantism |
|
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Elevated circulating growt... |
ORPHA:300373 |
| Ritscher-Schinzel Syndrome 2 |
|
Syndactyly, Atrial septal defect, Broad hallux, Overlapping toe, Camptodactyly of finger, Ventric... |
OMIM:300963 |
| 6P22 Microdeletion Syndrome |
|
Patent ductus arteriosus, Finger syndactyly, Clinodactyly, Hydrocephalus |
ORPHA:251046 |
| Eosinophilic Fasciitis |
|
Muscular edema, Acrocyanosis, Edema |
ORPHA:3165 |
| Infant Acute Respiratory Distress Syndrome |
|
Hypoxemia, Cyanosis, Pulmonary edema |
ORPHA:70587 |
| Aprosencephaly And Cerebellar Dysgenesis |
|
Poorly formed metencephalon, Aprosencephaly, Talipes equinovarus, Absent mesencephalon, Cerebella... |
OMIM:601374 |
| Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Short thumb, Palmoplantar keratoderma, Triphalangeal ... |
ORPHA:2251 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... |
ORPHA:3329 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Bicuspid aortic valve, Spina bifida, Patent ductus arteriosus, Anomalous pulmonary venous return,... |
ORPHA:1120 |
| Familial Acute Necrotizing Encephalopathy |
|
Abnormal brainstem MRI signal intensity, Abnormal thalamus morphology, Abnormal brainstem morphology |
ORPHA:88619 |
| Adult Krabbe Disease |
|
Abnormal pons morphology, Abnormal medulla oblongata morphology, Abnormal midbrain morphology |
ORPHA:206448 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Hydrocephalus, Abnormal brainstem mo... |
ORPHA:163961 |
| Branchiootorenal Syndrome 1 |
|
Branchial cyst, Branchial fistula |
OMIM:113650 |
| Czeizel-Losonci Syndrome |
|
Hitchhiker thumb, Single transverse palmar crease, Spina bifida, Dextrocardia, Myelomeningocele, ... |
ORPHA:2437 |
| Pontocerebellar Hypoplasia Type 10 |
|
Abnormal brainstem morphology |
ORPHA:411493 |
| Fatco Syndrome |
|
Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma... |
ORPHA:2492 |
| Charlie M Syndrome |
|
Finger syndactyly, Split hand, Triphalangeal thumb, Abnormal metacarpal morphology, Brachydactyly |
ORPHA:1406 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Abnormal brainstem MRI signal intensity, Abnormal thalamic MRI signal intensity, Left ventricular... |
ORPHA:444013 |
| Muscle-Eye-Brain Disease |
|
Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:588 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Cyanosis, Patent ductus arteriosus, Hypoplastic aortic arch, Abnormal aortic arch morphology, Coa... |
ORPHA:860 |
| Holoprosencephaly |
|
Encephalocele, Ventricular septal defect, Abnormal pulmonary valve morphology, Short neck, Hydroc... |
ORPHA:2162 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Syndactyly, Clinodactyly, Brachydactyly |
OMIM:610023 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Syndactyly, Ventricular septal defect, Polydactyly, Hydrocephalus |
OMIM:602501 |
| Restrictive Dermopathy 2 |
|
Intrauterine growth retardation, Cyanosis |
OMIM:619793 |
| Combined Oxidative Phosphorylation Deficiency 51 |
|
Intrauterine growth retardation, Focal T2 hyperintense thalamic lesion |
OMIM:619057 |
| Adenohypophysitis |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot... |
ORPHA:95512 |
| Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o... |
ORPHA:93322 |
| Craniosynostosis, Philadelphia Type |
|
Finger syndactyly |
ORPHA:1527 |
| Grange Syndrome |
|
Syndactyly, Patent ductus arteriosus, Ventricular septal defect, Short palm |
ORPHA:79094 |
| Growth Hormone Deficiency, Isolated Partial |
|
Small pituitary gland, Decreased response to growth hormone stimulation test |
OMIM:615925 |
| Primary Pulmonary Hypoplasia |
|
Hypoxemia, Intrauterine growth retardation, Cyanosis, Abnormal pulmonary artery morphology |
ORPHA:2257 |
| Hereditary Methemoglobinemia |
|
Cyanosis |
ORPHA:621 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Growth delay, Cyanosis |
OMIM:250800 |
| Pfeiffer Syndrome |
|
Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the fingers, Broad hallux, H... |
OMIM:101600 |
| Buerger Disease |
|
Acrocyanosis |
ORPHA:36258 |
| Epidermolysis Bullosa, Lethal Acantholytic |
|
Syndactyly, Natal tooth, Sandal gap, Widely spaced toes, Neonatal death, Mitten deformity, Clinod... |
OMIM:609638 |
| Poland Syndrome |
|
Syndactyly, Unilateral oligodactyly, Dextrocardia, Unilateral brachydactyly, Hypoplasia of deltoi... |
OMIM:173800 |
| Acute Interstitial Pneumonia |
|
Cyanosis, Pericardial effusion, Hypoxemia, Peripheral edema, Pleural effusion |
ORPHA:79126 |
| Obesity-Hypoventilation Syndrome |
|
Cyanosis |
OMIM:257500 |
| Weaver Syndrome |
|
Finger syndactyly, Sandal gap, Camptodactyly of finger, Cryptorchidism, Large hands, Talipes equi... |
ORPHA:3447 |
| Isolated Osteopoikilosis |
|
Syndactyly, Abnormal pelvis bone morphology, Abnormality of the endocrine system, Abnormal pelvis... |
ORPHA:166119 |
| Coasy Protein-Associated Neurodegeneration |
|
Abnormal thalamus morphology |
ORPHA:397725 |
| Lennox-Gastaut Syndrome |
|
Abnormal brainstem morphology |
ORPHA:2382 |
| Silver-Russell Syndrome 1 |
|
Syndactyly, Decreased response to growth hormone stimulation test, Short distal phalanx of the 5t... |
OMIM:180860 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Long toe, Overlapping toe, Ventricular septal defect, Parachute mitral valve, Cryptorchidism, Lon... |
OMIM:618316 |
| Asbestos Intoxication |
|
Hypoxemia, Cyanosis, Oxygen desaturation on exertion, Edema |
ORPHA:2302 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Syndactyly, Palmoplantar keratoderma, Cardiomegaly |
OMIM:613576 |
| Double Outlet Right Ventricle |
|
Cyanosis, Short stature, Coarctation of aorta, Pulmonary artery atresia, Truncus arteriosus |
ORPHA:3426 |
| Hypomelanosis Of Ito |
|
Syndactyly, Clinodactyly, Hand polydactyly, Radial deviation of finger |
OMIM:300337 |
| Sirenomelia |
|
Spina bifida, Sirenomelia |
ORPHA:3169 |
| Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Abnormal morphology of the radius, Holoprosencephaly, Abnormality of the diencephalon, Radial clu... |
ORPHA:2165 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
2-5 finger syndactyly, Congenital hip dislocation, Single transverse palmar crease, Adrenal hypop... |
OMIM:308050 |
| Laryngeal Abductor Paralysis |
|
Cyanosis |
OMIM:150260 |
| Oligomeganephronia |
|
Branchial cyst, Secundum atrial septal defect |
ORPHA:2260 |
| Bohring-Opitz Syndrome |
|
Syndactyly, Overlapping toe, Ulnar deviation of the wrist, Supernumerary nipple, Tapered finger, ... |
OMIM:605039 |
| Endocrine-Cerebroosteodysplasia |
|
Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Single transverse palma... |
OMIM:612651 |
| Aarskog-Scott Syndrome |
|
Short palm, Hyperextensibility of the finger joints, Syndactyly, Single transverse palmar crease,... |
OMIM:305400 |
| Pelvis-Shoulder Dysplasia |
|
Syndactyly, Camptodactyly of finger, Spina bifida, Aplasia/Hypoplasia of the fibula, Mesomelic/rh... |
ORPHA:2839 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Patent ductus arteriosus, Overriding aorta, Cyanosis |
ORPHA:3304 |
| Limb-Mammary Syndrome |
|
Hallux valgus, Syndactyly, Split hand, Split foot, Hypoplastic nipples, Camptodactyly, Joint cont... |
OMIM:603543 |
| Polysyndactyly With Cardiac Malformation |
|
Syndactyly, Ventricular septal defect, Preaxial hand polydactyly, Duplication of phalanx of hallu... |
OMIM:263630 |
| Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Acrocyanosis |
ORPHA:2400 |
| Orofaciodigital Syndrome Type 14 |
|
Dilated fourth ventricle, Broad hallux, Deviation of the hallux, Ventricular septal defect, Bilat... |
ORPHA:434179 |
| Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Finger syndactyly, Arachnodactyly, Camptodactyly of finger, Triphalangeal thumb, Delayed puberty,... |
ORPHA:2994 |
| Orofaciodigital Syndrome Xvi |
|
Molar tooth sign on MRI, Postaxial foot polydactyly, Postaxial hand polydactyly |
OMIM:617563 |
| Laurin-Sandrow Syndrome |
|
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, A... |
OMIM:135750 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t... |
OMIM:246570 |
| 3C Syndrome |
|
Finger syndactyly, Ventricular septal defect, Abnormal mitral valve morphology, Adrenal hypoplasi... |
ORPHA:7 |
| Acrootoocular Syndrome |
|
Delayed eruption of teeth, Short metacarpal, Small hypothenar eminence, Sandal gap, Abnormal fing... |
ORPHA:2980 |
| Triploidy |
|
Short neck, Hydrocephalus, Meningocele, Abnormal cardiac septum morphology, Holoprosencephaly, In... |
ORPHA:3376 |
| Isolated Posterior Meningocele |
|
Limitation of neck motion, Meningocele, Lipomyelomeningocele, Hydrocephalus, Neural tube defect, ... |
ORPHA:268810 |
| Camptobrachydactyly |
|
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Camptodactyly of finger, Ulna... |
ORPHA:1319 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Short metatarsal, Radioulnar s... |
OMIM:605282 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Cyanosis |
OMIM:263000 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... |
ORPHA:3320 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Abnormal heart m... |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Abnormal heart m... |
ORPHA:352665 |
| Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Focal T2 hyperintense thalamic lesion, Hypergonadotropic hypogonadism |
OMIM:613724 |
| Laurence-Moon Syndrome |
|
Finger syndactyly, Bilateral single transverse palmar creases, Cryptorchidism, Hand polydactyly, ... |
ORPHA:2377 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Cerebellar vermis hypoplasia, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5... |
OMIM:274000 |
| Distal 22Q11.2 Microdeletion Syndrome |
|
Branchial fistula, Ventricular septal defect, Atrial septal defect, Intrauterine growth retardati... |
ORPHA:261330 |
| Pulmonary Capillary Hemangiomatosis |
|
Cyanosis, Pericardial effusion, Pedal edema, Hypoxemia, Pleural effusion, Pulmonary edema |
ORPHA:199241 |
| Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Finger syndactyly, Toe syndactyly, Short hallux, Supernumerary nipple, Cerebellar hypoplasia, Abn... |
ORPHA:3224 |
| Encephalopathy, Ethylmalonic |
|
Death in infancy, Acrocyanosis, Petechiae |
OMIM:602473 |
| Congenital Disorder Of Deglycosylation 2 |
|
Ulnar deviation of the hand, Sandal gap, Cerebellar vermis hypoplasia, Partial agenesis of the co... |
OMIM:619775 |
| Endove Syndrome, Limb-Only Type |
|
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... |
OMIM:619217 |
| Orofaciodigital Syndrome Xiv |
|
Occipital encephalocele, Atrial septal defect, Natal tooth, Broad hallux, Ventricular septal defe... |
OMIM:615948 |
| Cutis Laxa, Autosomal Recessive, Type Iie |
|
Syndactyly, Genu varum, Hip dislocation, Deep palmar crease, Clinodactyly of the 5th finger, Brac... |
OMIM:619451 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Finger syndactyly, Hypoplasia of the ulna, Ventricular septal defect, Aplasia/Hypoplasia of the f... |
ORPHA:2256 |
| Pallister-Hall Syndrome |
|
Adrenal hypoplasia, Gonadotropin deficiency, Holoprosencephaly, Atrial septal defect, Atrioventri... |
ORPHA:672 |
| Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Short 2nd finger, Sandal gap, Broad hallux, Ventricular septal defect, Secundum atrial septal def... |
OMIM:600987 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Aplasia/Hypoplasia of the cerebellum, Hypertrophic cardiomyopathy, Abnormal brainstem morphology |
ORPHA:79279 |
| Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Broad hallux, Complete atrioventricular canal defect, Postaxial hand polydactyly, 2-3 finger synd... |
OMIM:217085 |
| Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... |
OMIM:617300 |
| Intellectual Developmental Disorder, Autosomal Dominant 4 |
|
Syndactyly, Short toe |
OMIM:612581 |
| Acrocardiofacial Syndrome |
|
Hallux valgus, Finger syndactyly, Hyperthyroidism, Toe syndactyly, Camptodactyly of finger, Mitra... |
ORPHA:2008 |
| Pfeiffer Syndrome Type 3 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hallux varus, Aqueductal s... |
ORPHA:93260 |
| Joubert Syndrome 8 |
|
Molar tooth sign on MRI, Occipital encephalocele |
OMIM:612291 |
| Aarskog-Scott Syndrome |
|
Delayed eruption of teeth, Finger syndactyly, Single transverse palmar crease, Camptodactyly of f... |
ORPHA:915 |
| Cleft Larynx, Posterior |
|
Cyanosis |
OMIM:215800 |
| Neurodevelopmental Disorder With Language Delay And Seizures |
|
Cryptorchidism, Ventricular septal defect, Hypothyroidism, Hypothalamic hamartoma |
OMIM:619908 |
| Apert Syndrome |
|
Limited elbow movement, Delayed epiphyseal ossification, Chiari type I malformation, Cutaneous fi... |
OMIM:101200 |
| Arima Syndrome |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Brainstem ... |
OMIM:243910 |
| Craniofrontonasal Dysplasia |
|
Finger syndactyly, Broad hallux phalanx, Sandal gap, Camptodactyly of finger, Down-sloping should... |
ORPHA:1520 |
| Bardet-Biedl Syndrome 9 |
|
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Polyda... |
OMIM:615986 |
| Absence Of The Pulmonary Artery |
|
Cyanosis, Patent ductus arteriosus, Pedal edema, Coarctation of aorta, Right aortic arch, Growth ... |
ORPHA:980 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Finger syndactyly, Toe syndactyly, Hydrocephalus, Hand polydactyly, Chiari malformation, Foot pol... |
ORPHA:60040 |
| Tarp Syndrome |
|
Atrial septal defect, Cerebellar vermis hypoplasia, Single transverse palmar crease, Rocker botto... |
OMIM:311900 |
| Verloove Vanhorick-Brubakk Syndrome |
|
Finger syndactyly, Tarsal synostosis, Cryptorchidism, Abnormality of the parathyroid gland, Abnor... |
ORPHA:3429 |
| Cranioectodermal Dysplasia |
|
Finger syndactyly, Brachydactyly, Rhizomelia, Abnormal diaphysis morphology, Clinodactyly of the ... |
ORPHA:1515 |
| Laryngotracheal Angioma |
|
Cyanosis |
ORPHA:137935 |
| Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Thalamic calcification |
OMIM:618317 |
| Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Hyd... |
ORPHA:91350 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Intrauterine growth retardation, Abnormality of dental eruption, Spina bifida |
ORPHA:1327 |
| Benign Familial Neonatal Epilepsy |
|
Circumoral cyanosis |
ORPHA:1949 |
| Orofaciodigital Syndrome Viii |
|
Syndactyly, Short tibia, Polydactyly |
OMIM:300484 |
| Spinocerebellar Ataxia Type 1 |
|
Cerebellar atrophy, Loss of Purkinje cells in the cerebellar vermis, Abnormal brainstem morpholog... |
ORPHA:98755 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Syndactyly, Ventricular septal defect, Abnormality of the hand, Cryptorchidism, Abnormal heart mo... |
ORPHA:369891 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Syndactyly, Proximal placement of thumb, Cryptorchidism, Patent ductus arteriosus, Cardiomyopathy... |
OMIM:217980 |
| Rubinstein-Taybi Syndrome 2 |
|
Syndactyly, Broad hallux, Short first metatarsal, Short 5th toe, Prominent fingertip pads, Broad ... |
OMIM:613684 |
| Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Ulnar deviation of the hand, Hypogonadotropic hypogonadism, Central adrenal insufficiency, Small ... |
OMIM:612079 |
| Silver-Russell Syndrome Due To A Point Mutation |
|
Syndactyly, Cryptorchidism, Short 5th finger, Polydactyly, Small placenta, Ectrodactyly, Clinodac... |
ORPHA:397590 |
| Mohr Syndrome |
|
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Hydrocephalus, Flared metaphys... |
OMIM:252100 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
T2 hypointense thalamus |
OMIM:618193 |
| Anophthalmia Plus Syndrome |
|
Spina bifida |
ORPHA:1104 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Encephalocele, Delayed eruption of teeth, Overlapping toe, Single transverse palmar crease, Taper... |
OMIM:619148 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Branchial anomaly |
ORPHA:466950 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
Cyanosis |
ORPHA:98913 |
| Hypoadrenocorticism, Familial |
|
Cyanosis |
OMIM:240200 |
| Isolated Right Ventricular Hypoplasia |
|
Hypoxemia, Cyanosis, Pedal edema |
ORPHA:439 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Short neck, Meningocele, Anomalous pulmonary venous return, Umbilical hernia, Spina bifida occult... |
ORPHA:2311 |
| Adams-Oliver Syndrome 6 |
|
Syndactyly, Ventricular septal defect, Foot oligodactyly, Truncus arteriosus, Brachydactyly |
OMIM:616589 |
| Fg Syndrome Type 1 |
|
Finger syndactyly, Limited elbow extension and supination, Broad toe, Single transverse palmar cr... |
ORPHA:93932 |
| White Forelock With Malformations |
|
Clinodactyly of the 5th finger, Finger syndactyly, Atrial septal defect, Spina bifida occulta |
ORPHA:2475 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Cyanosis, Patent ductus arteriosus, Abnormal aortic arch morphology, Aortopulmonary window, Coarc... |
ORPHA:99050 |
| Blepharocheilodontic Syndrome 1 |
|
Neural tube defect |
OMIM:119580 |
| Distal 22Q11.2 Microduplication Syndrome |
|
Branchial fistula, Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, Low poster... |
ORPHA:261337 |
| Neuroferritinopathy |
|
T2 hypointense thalamus, Iron accumulation in substantia nigra, Abnormal thalamic MRI signal inte... |
ORPHA:157846 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities |
|
Syndactyly, Clinodactyly |
OMIM:619091 |
| Acquired Methemoglobinemia |
|
Hypoxemia, Cyanosis |
ORPHA:464453 |
| Methylcobalamin Deficiency Type Cble |
|
Syndactyly, Hydrocephalus, Hypoplasia of the brainstem, Intrauterine growth retardation, Clinodac... |
ORPHA:2169 |
| Curry-Jones Syndrome |
|
Finger syndactyly, Toe syndactyly, Abnormality of thumb phalanx, Preaxial hand polydactyly, Foot ... |
ORPHA:1553 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Cyanosis, Short stature, Right aortic arch, Growth delay, Pulmonary artery hypoplasia, Delayed pu... |
ORPHA:2326 |
| Multiple Endocrine Neoplasia, Type I |
|
Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Pituitary adeno... |
OMIM:131100 |
| Cerebrocostomandibular Syndrome |
|
Ventricular septal defect, Spina bifida, Myelomeningocele, Meningocele, Webbed neck, Hydranenceph... |
ORPHA:1393 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Focal T2 hyperintense thalamic lesion, Abnormal heart morphology |
ORPHA:79264 |
| 19P13.12 Microdeletion Syndrome |
|
Finger syndactyly, Toe clinodactyly, Atrial septal defect, Sandal gap, Ventricular septal defect,... |
ORPHA:254346 |
| Dravet Syndrome |
|
Limited neck range of motion, Cyanotic episode |
ORPHA:33069 |
| Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Congenital hip dislocation, Aplasia/Hypoplasia of the distal phalanges of the ... |
ORPHA:1647 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Clinodactyly of the 5th finger, Syndactyly, Toe syndactyly, Testicular atrophy |
OMIM:601163 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Neonatal death, Death in infancy, Cyanosis |
OMIM:265120 |
| Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
Cerebellar atrophy, T2 hypointense thalamus |
ORPHA:1947 |
| Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Growth delay, Acrocyanosis |
OMIM:614407 |
| Cenani-Lenz Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Elbow dislocation, Short t... |
ORPHA:3258 |
| Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Decreased testicular size, Cryptorchidism, Small pituitary gland, Genu valgum |
OMIM:614880 |
| Hsd10 Disease, Infantile Type |
|
Cyanosis |
ORPHA:391428 |
| Cenani-Lenz Syndactyly Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Broad hallux, Hypoplasia of the radius, Radioulnar synostosis... |
OMIM:212780 |
| Microphthalmia With Brain And Digit Anomalies |
|
Finger syndactyly, Proximal placement of thumb, Cryptorchidism, Postaxial foot polydactyly, Infer... |
ORPHA:139471 |
| Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Syndactyly, Clinodactyly, Cerebellar hypoplasia, Cerebellar vermis atrophy |
OMIM:618087 |
| Congenital Fibrinogen Deficiency |
|
Cyanosis, Bruising susceptibility, Subcutaneous hemorrhage |
ORPHA:335 |
| Microphthalmia With Limb Anomalies |
|
Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of the 5th finge... |
ORPHA:1106 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Micromelia, Split hand, Intrauterine growth retardation, Brachydactyly |
ORPHA:2145 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Syndactyly, Clinodactyly, Arachnodactyly |
OMIM:619092 |
| Lymphangiectasia, Pulmonary, Congenital |
|
Mild postnatal growth retardation, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema... |
OMIM:265300 |
| Filippi Syndrome |
|
Enlarged epiphyses, Finger syndactyly, Ventricular septal defect, Supernumerary nipple, Cryptorch... |
ORPHA:3255 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Abnormal midbrain morphology, Decreased response to growth hormone stimulation test, Central diab... |
ORPHA:293987 |
| Tetrasomy 5P |
|
Postnatal growth retardation, Redundant neck skin, Cyanosis, Short neck |
ORPHA:3309 |
| Cryptogenic Organizing Pneumonia |
|
Hypoxemia, Cyanosis |
ORPHA:1302 |
| Congenital Tricuspid Valve Dysplasia |
|
Hypoxemia, Intrauterine growth retardation, Pericardial effusion, Cyanosis |
ORPHA:555874 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... |
OMIM:612576 |
| Desbuquois Dysplasia 2 |
|
Epiphyseal dysplasia, Short metacarpal, Single transverse palmar crease, Monkey wrench femoral ne... |
OMIM:615777 |
| Adams-Oliver Syndrome |
|
Encephalocele, Finger syndactyly, Brachydactyly, Abnormal pulmonary valve morphology, Absent toe,... |
ORPHA:974 |
| Meningioma |
|
Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Re... |
ORPHA:2495 |
| Duane-Radial Ray Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Sandal gap, Short humerus, Vent... |
OMIM:607323 |
| Orofaciodigital Syndrome I |
|
Syndactyly, Pancreatic cysts, Myelomeningocele, Hydrocephalus, Cerebellar cyst, Abnormal heart mo... |
OMIM:311200 |
| Acromelic Frontonasal Dysostosis |
|
Encephalocele, Syndactyly, Cryptorchidism, Preaxial polydactyly, Preaxial foot polydactyly, Patel... |
OMIM:603671 |
| Mitochondrial Phosphate Carrier Deficiency |
|
Cyanosis |
OMIM:610773 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Syndactyly, Ventricular septal defect, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypop... |
OMIM:617895 |
| 2Q31.1 Microdeletion Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Sandal gap, Abnormal morphology of ulna,... |
ORPHA:251014 |
| Truncus Arteriosus |
|
Cyanosis, Anomalous origin of one pulmonary artery from ascending aorta, Patent ductus arteriosus... |
ORPHA:3384 |
| Meckel Syndrome 14 |
|
Occipital encephalocele, Cyanosis, Short neck, Increased nuchal translucency, Oligohydramnios |
OMIM:619879 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Syndactyly, Pericardial lymphangiectasia, Camptodactyly |
OMIM:616006 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Proximal radio-ulnar synostosis, Syndactyly, Radial bowing, Ulnar bowing, Hip dislocation, Clinod... |
OMIM:605432 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Finger syndactyly, Atrial septal defect, Overlapping fingers, Overlapping toe, Single transverse ... |
ORPHA:464738 |
| Prolactinoma |
|
Hypogonadotropic hypogonadism, Female hypogonadism, Elevated circulating growth hormone concentra... |
ORPHA:2965 |
| Camptobrachydactyly |
|
Syndactyly, Short toe, Hand polydactyly, Congenital finger flexion contractures, Brachydactyly |
OMIM:114150 |
| Joubert Syndrome 5 |
|
Occipital encephalocele, Agenesis of cerebellar vermis, Aplasia/Hypoplasia of the cerebellar verm... |
OMIM:610188 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Growth delay, Acrocyanosis, Short stature |
ORPHA:1867 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Syndactyly, Single transverse palmar crease, 2-3 toe syndactyly, Coxa vara, Lobar holoprosencepha... |
OMIM:614701 |
| Combined Oxidative Phosphorylation Deficiency 25 |
|
Hypoplasia of the pons, Syndactyly, Cerebellar atrophy, Reduced circulating growth hormone concen... |
OMIM:616430 |
| Treacher-Collins Syndrome |
|
Encephalocele, Branchial fistula, Patent ductus arteriosus |
ORPHA:861 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Pancreatic fibrosis, Ventricular septal defect, Postaxial polydactyly, Preaxial polyd... |
OMIM:615503 |
| Spinocerebellar Ataxia With Epilepsy |
|
Focal T2 hyperintense thalamic lesion |
ORPHA:254881 |
| Chronic Pneumonitis Of Infancy |
|
Hypoxemia, Cyanosis |
ORPHA:91359 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Erythema, Urticaria, Growth delay, Acrocyanosis, Purpura |
ORPHA:343 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Neoplasm of the pancreas, Brachydactyly, Hypergonadotropic hypogonadism, Insulin-resistant diabet... |
ORPHA:2959 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cyanosis, Pericardial effusion, Anasarca, Peripheral edema, Pleural effusion, Ascites, Pulmonary ... |
OMIM:261740 |
| Congenital Tracheal Stenosis |
|
Cyanosis, Polyhydramnios, Fetal ascites, Ascending aorta hypoplasia, Patent ductus arteriosus, Pr... |
ORPHA:141127 |
| Leigh Syndrome |
|
Cerebellar atrophy, Ventricular septal defect, Abnormal brainstem MRI signal intensity, Focal T2 ... |
ORPHA:506 |
| Sepsis In Premature Infants |
|
Cyanosis, Edema, Jaundice, Petechiae, Purpura |
ORPHA:90051 |
| Mosaic Trisomy 16 |
|
Syndactyly, Ventricular septal defect, Single transverse palmar crease, Maternal diabetes, Large ... |
ORPHA:1708 |
| Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome |
|
Meningocele |
ORPHA:2003 |
| Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Syndactyly, Congenital hip dislocation, Absent nipple, Cubitus valgus, Patent ductus arteriosus, ... |
OMIM:104350 |
| Mosaic Trisomy 9 |
|
Ventricular septal defect, Dextrocardia, Spina bifida, Short neck, Abnormal heart valve morpholog... |
ORPHA:99776 |
| New-Onset Refractory Status Epilepticus |
|
Cerebellar edema, Abnormal thalamic MRI signal intensity |
ORPHA:363558 |
| Charcot-Marie-Tooth Disease, Type 4B3 |
|
Syndactyly |
OMIM:615284 |
| Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy |
|
Abnormal pons morphology, Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Cerebellar... |
ORPHA:370997 |
| Silver-Russell Syndrome 3 |
|
Syndactyly, Unilateral cryptorchidism, Patent ductus arteriosus, Small hand, Clinodactyly of the ... |
OMIM:616489 |
| Curry-Jones Syndrome |
|
Duplication of thumb phalanx, Preaxial hand polydactyly, Lipomyelomeningocele, 2-3 finger syndact... |
OMIM:601707 |
| Lethal Acantholytic Erosive Disorder |
|
Natal tooth, Cardiomegaly, 4-5 finger syndactyly, 2-3 finger syndactyly, Cardiomyopathy, Clinodac... |
ORPHA:158687 |
| Teebi Hypertelorism Syndrome 2 |
|
Clinodactyly of the 5th finger, Syndactyly, Delayed eruption of teeth |
OMIM:619736 |
| Waardenburg Syndrome Type 1 |
|
Meningocele, Spina bifida |
ORPHA:894 |
| Ethylmalonic Encephalopathy |
|
Acrocyanosis, Petechiae |
ORPHA:51188 |
| Pituitary Dermoid And Epidermoid Cysts |
|
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Hypogonadism, Hyperpituitarism, Ant... |
ORPHA:91351 |
| Craniodigital-Intellectual Disability Syndrome |
|
Finger syndactyly, Spina bifida occulta |
ORPHA:1514 |
| 19Q13.11 Microdeletion Syndrome |
|
Finger syndactyly, Congenital hip dislocation, Toe syndactyly, Ventricular septal defect, Supernu... |
ORPHA:217346 |
| Timothy Syndrome |
|
Ventricular septal defect, Cardiomegaly, Hypothyroidism, Patent ductus arteriosus, Cutaneous synd... |
OMIM:601005 |
| Kbg Syndrome |
|
Single transverse palmar crease, Cryptorchidism, Congenital malformation of the left heart, Cutan... |
ORPHA:2332 |
| Kury-Isidor Syndrome |
|
Finger syndactyly, Ventricular septal defect, Rocker bottom foot, Proximal placement of thumb, Hi... |
OMIM:619762 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Micromelia, Postaxial ... |
OMIM:614091 |
| 8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Ventricular septal defect, Short neck, Atrioventricular canal defect, Complete at... |
ORPHA:508488 |
| Cerebrofacioarticular Syndrome |
|
Syndactyly, Cerebellar vermis hypoplasia, Dysplastic corpus callosum, Absence of pubertal develop... |
ORPHA:314679 |
| Neurocutaneous Melanocytosis |
|
Meningocele |
ORPHA:2481 |
| Combined Oxidative Phosphorylation Defect Type 7 |
|
Abnormal brainstem MRI signal intensity, Abnormal thalamic MRI signal intensity |
ORPHA:254930 |
| Isolated Split Hand-Split Foot Malformation |
|
Finger syndactyly, Split hand, Absent hand, Oligodactyly |
ORPHA:2440 |
| Aicardi-Goutieres Syndrome 1 |
|
Short stature, Erythema, Prolonged neonatal jaundice, Acrocyanosis, Petechiae, Purpura |
OMIM:225750 |
| Neu-Laxova Syndrome 1 |
|
Micromelia, Calcaneovalgus deformity, Neonatal death, Patent foramen ovale, Agenesis of corpus ca... |
OMIM:256520 |
| Cantú Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Abnormal heart valve morphology, Short hallux, Coxa valg... |
ORPHA:1517 |
| Acrofacial Dysostosis, Catania Type |
|
Finger syndactyly, Brachydactyly, Cryptorchidism, Small hand, Short palm, Clinodactyly of the 5th... |
ORPHA:1786 |
| 17Q12 Microduplication Syndrome |
|
Atrial septal defect, Finger syndactyly, Toe syndactyly |
ORPHA:261272 |
| Iniencephaly |
|
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dysraphism, Hol... |
ORPHA:63259 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Cyanosis |
OMIM:250790 |
| Opitz-Kaveggia Syndrome |
|
Syndactyly, Broad hallux, Single transverse palmar crease, Cryptorchidism, Partial agenesis of th... |
OMIM:305450 |
| Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Finger syndactyly, Toe syndactyly, Arachnodactyly, Cryptorchidism, Short palm, Intrauterine growt... |
ORPHA:73246 |
| Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
|
Cryptorchidism, Hypogonadotropic hypogonadism, Small pituitary gland, Delayed puberty |
OMIM:612702 |
| Eem Syndrome |
|
Finger syndactyly, Ectrodactyly |
ORPHA:1897 |
| Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract |
OMIM:600145 |
| Autoimmune Pulmonary Alveolar Proteinosis |
|
Hypoxemia, Foam cells, Cyanosis |
ORPHA:747 |
| Lateral Meningocele Syndrome |
|
Ventricular septal defect, Short neck, Meningocele, Low posterior hairline, Umbilical hernia |
ORPHA:2789 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Natal tooth, Atrial septal defect, Intrauterine growth retardation, Patent forame... |
OMIM:620186 |
| Schizophrenia 1 |
|
Syndactyly, Short proximal phalanx of the 4th toe |
OMIM:181510 |
| Adams-Oliver Syndrome 5 |
|
Syndactyly, Right atrial enlargement, Pulmonic stenosis, Right ventricular hypertrophy, Umbilical... |
OMIM:616028 |
| Fountain Syndrome |
|
Spina bifida occulta, Spina bifida |
ORPHA:3219 |
| Laryngotracheoesophageal Cleft |
|
Cyanosis |
ORPHA:2004 |
| Pfeiffer Syndrome |
|
Finger syndactyly, Brachydactyly, Symphalangism affecting the phalanges of the hand, Hip dysplasi... |
ORPHA:710 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Hyperextensibility of the finger joints, Syndactyly, Anterior pituitary hypoplasia, Aplasia/Hypop... |
OMIM:151050 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Hypoxemia, Death in infancy, Cyanosis, Neonatal death |
OMIM:610921 |
| Aortic Arch Interruption |
|
Cyanosis, Patent ductus arteriosus, Abnormal ascending aorta morphology, Aortopulmonary window, P... |
ORPHA:2299 |
| 2Q37 Microdeletion Syndrome |
|
Finger syndactyly, Short metacarpal, Toe syndactyly, Brachydactyly, Supernumerary nipple, Small h... |
ORPHA:1001 |
| Isolated Exencephaly |
|
Anterior pituitary hypoplasia, Maternal diabetes, Holoprosencephaly, Posterior pituitary agenesis... |
ORPHA:563612 |
| Prader-Willi Syndrome |
|
Short palm, Syndactyly, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimu... |
OMIM:176270 |
| 14Q22Q23 Microdeletion Syndrome |
|
Finger syndactyly, Toe syndactyly, Anterior pituitary hypoplasia, Adrenal hypoplasia, Cryptorchid... |
ORPHA:264200 |
| Tsh-Secreting Pituitary Adenoma |
|
Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hyperthyroidis... |
ORPHA:91347 |
| Lateral Meningocele Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Short neck, Hydrocephalus, Meningocele, Patent ... |
OMIM:130720 |
| Pulmonary Arteriovenous Malformation |
|
Hypoxemia, Cyanosis, Pleural empyema, Telangiectasia |
ORPHA:2038 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Cardiomyopathy, Focal T2 hyperintense thalamic lesion |
OMIM:619046 |
| Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Syndactyly, Narrow joint spaces of the elbow, Brachydactyly, Decreased response to growth hormone... |
ORPHA:96182 |
| Holoprosencephaly 7 |
|
Alobar holoprosencephaly, Partial agenesis of the corpus callosum, Hydrocephalus, Lobar holoprose... |
OMIM:610828 |
| Sheehan Syndrome |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot... |
ORPHA:91355 |
| Congenital Myasthenic Syndrome |
|
Cyanosis, Polyhydramnios |
ORPHA:590 |
| Presynaptic Congenital Myasthenic Syndromes |
|
Cyanosis, Polyhydramnios |
ORPHA:98914 |
| Igg4-Related Thyroid Disease |
|
Nodular goiter, Pancreatic fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland... |
ORPHA:64744 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 8 |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased serum insulin... |
OMIM:620303 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Cyanosis |
OMIM:261680 |
| Cohen Syndrome |
|
Finger syndactyly, Arachnodactyly, Sandal gap, Ventricular septal defect, Tapered finger, Cubitus... |
ORPHA:193 |
| Acute Disseminated Encephalomyelitis |
|
Abnormal brainstem MRI signal intensity, Abnormal cerebellum morphology, Abnormal thalamic MRI si... |
ORPHA:83597 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... |
ORPHA:95494 |
| Neu-Laxova Syndrome 2 |
|
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Spina bifida, Cerebellar hypoplasia, Intra... |
OMIM:616038 |
| Oculodentodigital Dysplasia |
|
Finger syndactyly, Toe syndactyly, Ventricular septal defect, Camptodactyly of finger, Short hall... |
ORPHA:2710 |
| Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Meningocele |
ORPHA:2031 |
| 20P13 Microdeletion Syndrome |
|
Finger syndactyly, Clinodactyly, Polydactyly, Brachydactyly |
ORPHA:313781 |
| Pulmonary Alveolar Proteinosis, Acquired |
|
Hypoxemia, Cyanosis |
OMIM:610910 |
| Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Dilated cardiomyopathy, Abnormal thalamic MRI signal intensity, Abnormal cerebellar cortex morpho... |
ORPHA:70595 |
| Ethylene Glycol Poisoning |
|
Cyanosis, Cerebral edema, Renal tubular epithelial necrosis, Pulmonary edema |
ORPHA:31826 |
| Pseudohypoparathyroidism Type 1C |
|
Delayed eruption of teeth, Short metacarpal, Short fifth metatarsal, Hypergonadotropic hypogonadi... |
ORPHA:79444 |
| Amish Lethal Microcephaly |
|
Spina bifida |
ORPHA:99742 |
| Ring Chromosome 12 Syndrome |
|
Syndactyly, Secundum atrial septal defect, Cryptorchidism, Abnormal 5th finger morphology, Sympha... |
ORPHA:1439 |
| Hamamy Syndrome |
|
Hypoparathyroidism, Long toe, Syndactyly, Atrial septal defect, Down-sloping shoulders, Tapered f... |
OMIM:611174 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Premature pubarche, Hypogonadotropic hypogonadism, Precocious puberty, Cryptorchidism, Small hand... |
ORPHA:398079 |
| Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Cardiomegaly, Abnor... |
ORPHA:3472 |
| Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
|
Cryptorchidism, Congenital bilateral hip dislocation, Syndactyly |
ORPHA:404451 |
| Apert Syndrome |
|
Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Mi... |
ORPHA:87 |
| Developmental And Epileptic Encephalopathy 108 |
|
Small pituitary gland |
OMIM:620115 |
| Acro-Renal-Ocular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol... |
ORPHA:959 |
| Limb Body Wall Complex |
|
Encephalocele, Ventricular septal defect, Spina bifida, Myelomeningocele, Hydrocephalus, Anenceph... |
ORPHA:2369 |
| Bardet-Biedl Syndrome 6 |
|
Syndactyly, Diabetes mellitus, Postaxial polydactyly |
OMIM:605231 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Cyanosis, Right aortic arch, Pulmonary artery hypoplasia, Interrupted aortic arch, Pulmonary arte... |
OMIM:616749 |
| Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Hydrocephalus, Small pituitary gland, Nasofrontal encephalocele |
OMIM:614195 |
| Acrofrontofacionasal Dysostosis 2 |
|
Syndactyly, Hand polydactyly, Broad hallux, Broad thumb |
OMIM:239710 |
| Poems Syndrome |
|
Edema, Pericardial effusion, Acrocyanosis, Pleural effusion, Ascites |
ORPHA:2905 |
| Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cyanosis |
OMIM:619580 |
| Acquired Purpura Fulminans |
|
Acrocyanosis, Macular purpura |
ORPHA:49566 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Finger syndactyly, Abnormality of the elbow, Hip dislocation, Short middle phalanx of finger, Cli... |
ORPHA:1005 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Aqueductal stenosis, Dextrotransposition of the great arteries, Atrial septal defec... |
OMIM:306955 |
| Focal Dermal Hypoplasia |
|
Finger syndactyly, Toe syndactyly, Ventricular septal defect, Abnormal palmar dermatoglyphics, Sp... |
ORPHA:2092 |
| Mckusick-Kaufman Syndrome |
|
Finger syndactyly, Ventricular septal defect, Tarsal synostosis, Cryptorchidism, Postaxial hand p... |
ORPHA:2473 |
| Sandhoff Disease, Infantile Form |
|
Abnormal thalamic MRI signal intensity, Mitral valve prolapse |
ORPHA:309155 |
| Chromosome 17P13.1 Deletion Syndrome |
|
Spina bifida, Short neck, Hydrocephalus, Webbed neck, Umbilical hernia, Broad neck |
OMIM:613776 |
| Acrocallosal Syndrome |
|
Finger syndactyly, Toe syndactyly, Duplication of thumb phalanx, Abnormal pulmonary valve morphol... |
OMIM:200990 |
| Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Aplasia of the pectoralis major muscle, Atrial septal defect, Sp... |
ORPHA:2911 |
| Waardenburg Syndrome Type 3 |
|
Acrocyanosis |
ORPHA:896 |
| X Small Rings |
|
Toe syndactyly, Bicuspid aortic valve, Ventricular septal defect, Tapered finger, 2-3 toe syndact... |
ORPHA:96201 |
| Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Bilateral single transverse pa... |
ORPHA:3103 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Ventricular septal defect, Tapered finger, Cryptorchidism, Short toe, Patent ductus arteriosus, A... |
ORPHA:464311 |
| Postaxial Acrofacial Dysostosis |
|
Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Supernumerary nipple, Hypopla... |
ORPHA:246 |
| Rubinstein-Taybi Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Abnormal distal phalanx morphology of finger, Cryptorchi... |
ORPHA:783 |
| Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Cerebellar atrophy, Abnormal thalamic MRI signal intensity |
ORPHA:485421 |
| Acromelic Frontonasal Dysplasia |
|
Encephalocele, Meningocele |
ORPHA:1827 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Small hypothenar eminence, Streak ovary, Hypergonadotropic hypogonadism, Decreased palmar creases... |
ORPHA:2232 |
| Autosomal Recessive Robinow Syndrome |
|
Abnormal tricuspid valve morphology, Atrial septal defect, Clinodactyly of the 5th finger, Bilate... |
ORPHA:1507 |
| Cri-Du-Chat Syndrome |
|
Syndactyly, Short metacarpal, Single transverse palmar crease, Metatarsus adductus, Cryptorchidis... |
OMIM:123450 |
| Crane-Heise Syndrome |
|
Finger syndactyly, Hypoplastic scapulae, Toe syndactyly, Aplastic clavicle, Cryptorchidism, Talip... |
ORPHA:1512 |
| Cardiac Valvular Dysplasia 2 |
|
Ascending tubular aorta aneurysm, Pulmonary artery dilatation, Central cyanosis |
OMIM:620067 |
| Double Outlet Left Ventricle |
|
Pulmonary artery stenosis, Patent ductus arteriosus, Cyanosis |
ORPHA:3427 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Cyanosis |
ORPHA:488627 |
| Hartsfield Syndrome |
|
Syndactyly, Alobar holoprosencephaly, Cryptorchidism, Gonadotropin deficiency, Lobar holoprosence... |
OMIM:615465 |
| Epidermolysis Bullosa, Junctional 1B, Severe |
|
Syndactyly |
OMIM:226700 |
| Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Abnormal hip bone morphology, Intrauterine growth ret... |
ORPHA:1323 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Finger syndactyly, Arachnodactyly, Long palm, Camptodactyly of finger, Tapered finger, Metatarsus... |
ORPHA:2215 |
| Tarp Syndrome |
|
Finger syndactyly, Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Cr... |
ORPHA:2886 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Growth delay, Death in infancy, Cyanosis, Cerebral edema |
OMIM:252010 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Cyanosis |
ORPHA:159 |
| Bardet-Biedl Syndrome 1 |
|
Decreased testicular size, Syndactyly, Diabetes mellitus, Postaxial polydactyly, Nephrogenic diab... |
OMIM:209900 |
| Pseudohypoparathyroidism Type 1A |
|
Delayed eruption of teeth, Short metacarpal, Short fifth metatarsal, Hypergonadotropic hypogonadi... |
ORPHA:79443 |
| Acrofacial Dysostosis, Palagonia Type |
|
Finger syndactyly, Spina bifida occulta, Small hand, Short 4th metacarpal |
ORPHA:1787 |
| Fanconi Anemia |
|
Abnormal femur morphology, Triphalangeal thumb, Clinodactyly of the 5th finger, Atrial septal def... |
ORPHA:84 |
| Atrial Septal Defect, Ostium Primum Type |
|
Pulmonary artery dilatation, Cyanosis, Peripheral edema |
ORPHA:99106 |
| Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Syndactyly, Broad hallux, Single transverse palmar crease, Micromelia, Sandal gap, Brachydactyly |
OMIM:614800 |
| Vacterl/Vater Association |
|
Occipital encephalocele, Finger syndactyly, Cryptorchidism, Preaxial hand polydactyly, Anencephal... |
ORPHA:887 |
| Choanal Atresia |
|
Cyanosis |
ORPHA:137914 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Premature pubarche, Precocious puberty, Cryptorchidism, Small hand, Absence of pubertal developme... |
ORPHA:398069 |
| Acro-Renal-Mandibular Syndrome |
|
Finger syndactyly, Hypoplasia of the ulna, Hypoplastic scapulae, Split hand, Hypoplasia of the ra... |
ORPHA:958 |
| Congenital Disorder Of Glycosylation, Type Iiq |
|
Small pituitary gland |
OMIM:617395 |
| Alobar Holoprosencephaly |
|
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... |
ORPHA:93924 |
| Semilobar Holoprosencephaly |
|
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... |
ORPHA:220386 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Syndactyly, Hypoplastic right heart, Ventricular septal defect, Cryptorchidism, Patent foramen ov... |
OMIM:616894 |
| Cog2-Cdg |
|
Small pituitary gland |
ORPHA:435934 |
| Pulmonary Alveolar Microlithiasis |
|
Cyanosis, Calcification of the aorta, Hypoxemia, Peripheral edema, Oxygen desaturation on exertion |
ORPHA:60025 |
| Moebius Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Hypogonadotropic hypogonadism,... |
ORPHA:570 |
| Esophageal Atresia |
|
Growth delay, Cyanosis, Polyhydramnios, Coarctation of aorta |
ORPHA:1199 |
| Pagod Syndrome |
|
Encephalocele, Spina bifida, Situs inversus totalis, Meningocele, Hypoplastic left heart |
ORPHA:991 |
| Eisenmenger Syndrome |
|
Cyanosis, Patent ductus arteriosus, Pedal edema, Aortopulmonary window, Hypoxemia, Peripheral ede... |
ORPHA:97214 |
| Blepharocheilodontic Syndrome 2 |
|
Cutaneous syndactyly |
OMIM:617681 |
| Trisomy 18 |
|
Ventricular septal defect, Spina bifida, Anencephaly, Holoprosencephaly, Webbed neck, Atrial sept... |
ORPHA:3380 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Syndactyly |
OMIM:615631 |
| Bartsocas-Papas Syndrome |
|
Finger syndactyly, Toe syndactyly, Absent thumb, Aplasia/Hypoplasia of the distal phalanges of th... |
ORPHA:1234 |
| Lumbar Syndrome |
|
Myelomeningocele, Spina bifida |
ORPHA:83628 |
| Townes-Brocks Syndrome 1 |
|
Short metatarsal, Holoprosencephaly, Triphalangeal thumb, Atrial septal defect, Hypothyroidism, 2... |
OMIM:107480 |
| Hydranencephaly |
|
Dilatation of the ventricular cavity, Thalamic edema, Intrauterine growth retardation, Dysgenesis... |
ORPHA:2177 |
| Trisomy 20P |
|
Umbilical hernia, Low posterior hairline, Spina bifida, Short neck |
ORPHA:261318 |
| Robinow Syndrome |
|
Syndactyly, Brachydactyly, Ventricular septal defect, Bifid distal phalanx of the thumb, Persiste... |
ORPHA:97360 |
| Congenital Tracheomalacia |
|
Cyanosis, Patent ductus arteriosus, Right aortic arch, Abnormal pulmonary artery morphology, Doub... |
ORPHA:95430 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Syndactyly, Cerebellar vermis hypoplasia, Ventricular septal defect, Hypoplasia of the pons, Cryp... |
OMIM:616975 |
| Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Finger syndactyly, Toe syndactyly, Elbow dislocation, Patent ductus arteriosus, Aplasia/Hypoplasi... |
ORPHA:1112 |
| Neurocardiofaciodigital Syndrome |
|
Dilated fourth ventricle, Syndactyly, Cerebellar vermis hypoplasia, Patent ductus arteriosus, Dou... |
OMIM:619869 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Syndactyly, Arachnodactyly, Rocker bottom foot, Down-sloping shoulders, Cryptorchidism, Patellar ... |
OMIM:265000 |
| Larsen Syndrome |
|
Finger syndactyly, Brachydactyly, Cryptorchidism, Accessory carpal bones, Abnormal epiphysis morp... |
ORPHA:503 |
| Smith-Lemli-Opitz Syndrome |
|
Proximal placement of thumb, Holoprosencephaly, Advanced eruption of teeth, Atrial septal defect,... |
ORPHA:818 |
| Blepharonasofacial Malformation Syndrome |
|
Cryptorchidism, Finger syndactyly |
ORPHA:1252 |
| Choroidal Atrophy-Alopecia Syndrome |
|
Finger syndactyly, Supernumerary nipple |
ORPHA:1433 |
| Orofaciodigital Syndrome Type 2 |
|
Finger syndactyly, Natal tooth, Broad hallux, Short tibia, Adactyly, Broad first metatarsal, Post... |
ORPHA:2751 |
| Teebi-Shaltout Syndrome |
|
Syndactyly, Ulnar deviation of the hand, Ventricular septal defect, Single transverse palmar crea... |
OMIM:272950 |
| Cardiac Valvular Dysplasia 1 |
|
Cyanosis, Edema, Hydrops fetalis, Left aortic arch with cervical origin of the right subclavian a... |
OMIM:212093 |
| Prader-Willi Syndrome |
|
Diabetes mellitus, Decreased response to growth hormone stimulation test, Precocious puberty, Cry... |
ORPHA:739 |
| Hyperoxaluria, Primary, Type I |
|
Acrocyanosis, Peripheral arterial stenosis, Cutis marmorata, Dehydration |
OMIM:259900 |
| Short Stature With Microcephaly And Distinctive Facies |
|
Syndactyly, Short digit, Proximal placement of thumb, Talipes equinovarus, Short distal phalanx o... |
OMIM:615789 |
| 8Q22.1 Microdeletion Syndrome |
|
Finger syndactyly, Sandal gap, Camptodactyly of finger, Cryptorchidism, Hypogonadism |
ORPHA:178303 |
| Pituitary Hormone Deficiency, Combined, 6 |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased circulating A... |
OMIM:613986 |
| Criss-Cross Heart |
|
Cyanosis |
ORPHA:1461 |
| Pseudohypoparathyroidism Type 1B |
|
Delayed eruption of teeth, Cortical subperiosteal resorption of humeral metaphyses, Decreased res... |
ORPHA:94089 |
| Aceruloplasminemia |
|
Diabetes mellitus, Abnormal pancreas morphology, Abnormal thalamic MRI signal intensity, Abnormal... |
ORPHA:48818 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Hallux valgus, Ventricular septal defect, Decreased response to growth hormone stimulation test, ... |
ORPHA:268261 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Urticaria, Acrocyanosis, Cutis marmorata, Purpura |
ORPHA:183 |
| Blepharo-Cheilo-Odontic Syndrome |
|
Finger syndactyly |
ORPHA:1997 |
| Rubinstein-Taybi Syndrome 1 |
|
Single transverse palmar crease, Premature thelarche, Bilateral cryptorchidism, Hypoplastic iliac... |
OMIM:180849 |
| Branchiooculofacial Syndrome |
|
Intrauterine growth retardation, Branchial anomaly, Low posterior hairline, Short neck |
OMIM:113620 |
| Tay-Sachs Disease |
|
Cerebellar atrophy, Precocious puberty, Abnormal thalamic MRI signal intensity, Distal upper limb... |
ORPHA:845 |
| Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities |
|
Syndactyly, Cryptorchidism, Broad palm, Hypoplastic nipples, Clinodactyly of the 5th finger |
OMIM:618505 |
| Constricting Bands, Congenital |
|
Encephalocele, Syndactyly, Hand polydactyly, Talipes equinovarus, Ectopia cordis |
OMIM:217100 |
| Vacterl With Hydrocephalus |
|
Aqueductal stenosis, Intrauterine growth retardation, Hydrocephalus, Spina bifida |
ORPHA:3412 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Hip contracture, Osteolysis involving bones of the upper limbs, Abnormal heart morphology, Osteol... |
ORPHA:464321 |
| Jacobsen Syndrome |
|
Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Ventricular septal defect, Spina bifida,... |
ORPHA:2308 |
| Simpson-Golabi-Behmel Syndrome |
|
Finger syndactyly, Atrial septal defect, Congenital hip dislocation, Toe syndactyly, Camptodactyl... |
ORPHA:373 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Hypoplastic tricuspid valve, Double outlet left ventricle, Neonatal insulin-dependent diabetes me... |
ORPHA:2255 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Cryptorchidism, Symphalangism affecting the phalanges... |
ORPHA:2990 |
| Microphthalmia, Syndromic 3 |
|
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Ventricular septal defect, Cryptorc... |
OMIM:206900 |
| Myoclonic-Astatic Epilepsy |
|
Syndactyly |
ORPHA:1942 |
| Fucosidosis |
|
Acrocyanosis, Vascular skin abnormality |
ORPHA:349 |
| Grange Syndrome |
|
Syndactyly, Bicuspid aortic valve, Finger clinodactyly, Coronary artery stenosis, Brachydactyly |
OMIM:602531 |
| Familial Cerebral Saccular Aneurysm |
|
Abnormal brainstem morphology |
ORPHA:231160 |
| Bartsocas-Papas Syndrome 1 |
|
Syndactyly, Short metacarpal, Hypoplastic scapulae, Absent thumb, Bilateral cryptorchidism, Short... |
OMIM:263650 |
| Wilson Disease |
|
Hypoparathyroidism, Face of the giant panda sign |
OMIM:277900 |
| Tukel Syndrome |
|
Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly |
OMIM:609428 |
| Klippel-Trenaunay-Weber Syndrome |
|
Syndactyly, Hand oligodactyly, Macrodactyly, Hand polydactyly |
OMIM:149000 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Hypoxemia, Cyanosis |
OMIM:610913 |
| Postaxial Acrofacial Dysostosis |
|
Hypoplasia of the ulna, Syndactyly, Congenital hip dislocation, Supernumerary nipple, Cryptorchid... |
OMIM:263750 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Death in infancy, Cyanosis, Death in childhood |
OMIM:618426 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Bicuspid aortic valve, Chiari type I malformation, Atrial septal defect, Patent foramen ovale, Sy... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Bicuspid aortic valve, Chiari type I malformation, Atrial septal defect, Patent foramen ovale, Sy... |
ORPHA:353277 |
| Yunis-Varon Syndrome |
|
Congenital hip dislocation, Cerebellar vermis hypoplasia, Single transverse palmar crease, Short ... |
OMIM:216340 |
| Loeys-Dietz Syndrome 2 |
|
Syndactyly, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Bicuspid aortic valve, Pa... |
OMIM:610168 |
| Craniofacial Microsomia 1 |
|
Occipital encephalocele, Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, Bran... |
OMIM:164210 |
| Phakomatosis Pigmentokeratotica |
|
Spina bifida |
ORPHA:2874 |
| Vater/Vacterl Association |
|
Occipital encephalocele, Syndactyly, Ventricular septal defect, Spina bifida, Absent radius, Shor... |
OMIM:192350 |
| Saethre-Chotzen Syndrome |
|
Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Brachydactyly, Cryptorchidism,... |
ORPHA:794 |
| Bardet-Biedl Syndrome |
|
Finger syndactyly, Cryptorchidism, Postaxial hand polydactyly, Hypoplasia of the ovary, Hypogonadism |
ORPHA:110 |
| Eec Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Decreased response to growth ... |
ORPHA:1896 |
| Waardenburg Syndrome, Type 1 |
|
Myelomeningocele, Spina bifida |
OMIM:193500 |
| Non-Acquired Panhypopituitarism |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... |
ORPHA:90695 |
| Generalized Arterial Calcification Of Infancy |
|
Medial calcification of large arteries, Cyanosis, Coronary artery calcification, Edema, Polyhydra... |
ORPHA:51608 |
| Histiocytoid Cardiomyopathy |
|
Cyanosis, Pulmonary edema |
ORPHA:137675 |
| Microphthalmia, Lenz Type |
|
Delayed eruption of teeth, Finger syndactyly, Camptodactyly of finger, Cryptorchidism, Abnormal s... |
ORPHA:568 |
| Orofaciodigital Syndrome Type 1 |
|
Finger syndactyly, Tarsal synostosis, Pancreatic cysts, Preaxial hand polydactyly, Short toe, Pos... |
ORPHA:2750 |
| Basal Cell Nevus Syndrome 1 |
|
Cardiac rhabdomyoma, Hydrocephalus, Cardiac fibroma, Spina bifida |
OMIM:109400 |
| Fontaine Progeroid Syndrome |
|
Syndactyly, Atrial septal defect, Absent nipple, Bicuspid aortic valve, Cerebellar vermis hypopla... |
OMIM:612289 |
| Sclerosteosis 1 |
|
Syndactyly, 2-3 finger syndactyly, Deviation of finger, Abnormal pelvic girdle bone morphology, C... |
OMIM:269500 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Umbilical hernia, Syndactyly |
OMIM:614520 |
| Pili Torti-Onychodysplasia Syndrome |
|
Palmoplantar keratoderma, Cutaneous syndactyly |
ORPHA:2890 |
| Cloacal Exstrophy |
|
Myelomeningocele, Spina bifida |
ORPHA:93929 |
| Lathosterolosis |
|
Intrauterine growth retardation, Meningocele |
ORPHA:46059 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Bicuspid aortic valve, Truncus arteriosus, Spina bifida, Short neck, Ventricular septal defect, P... |
ORPHA:508498 |
| Pitt-Hopkins Syndrome |
|
Short neck, Postnatal growth retardation, Growth delay, Failure of eruption of permanent teeth, A... |
ORPHA:2896 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Anterior pituitary hypoplasia, Aqueductal stenosis, Secundum atrial septal defect, Primum atrial ... |
OMIM:619534 |
| Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Communicating hydrocephalus, Decreased thalamic volume, Brachydactyly |
ORPHA:168577 |
| Complete Atrioventricular Septal Defect |
|
Cyanosis |
ORPHA:1329 |
| Witteveen-Kolk Syndrome |
|
Branchial fistula, Intrauterine growth retardation |
OMIM:613406 |
| Holoprosencephaly 9 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cryptorchid... |
OMIM:610829 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Finger syndactyly, Aplastic clavicle, Cryptorchidism, Abnormal metacarpal morphology, Hydrocephal... |
ORPHA:2658 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Cyanosis, Pedal edema |
ORPHA:99103 |
| Kbg Syndrome |
|
Syndactyly, Single transverse palmar crease, Cryptorchidism, Cutaneous syndactyly, Radial deviati... |
OMIM:148050 |
| 22Q11.2 Deletion Syndrome |
|
Ventricular septal defect, Abnormal pulmonary valve morphology, Spina bifida, Short neck, Hydroce... |
ORPHA:567 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Growth delay, Acrocyanosis |
OMIM:223900 |
| Hypoglossia-Hypodactyly Syndrome |
|
Finger syndactyly, Brachydactyly, Adactyly, Split hand, Aplasia/Hypoplasia of fingers, Upper limb... |
ORPHA:989 |
| Williams Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Clinodactyly of the 5th finger, Atrial septal defect, Abnorm... |
ORPHA:904 |
| Long Qt Syndrome 8 |
|
Syndactyly |
OMIM:618447 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Cyanosis, Telangiectasia of the skin, Nail bed telangiectasia, Pulmo... |
OMIM:187300 |
| Nail-Patella Syndrome |
|
Spina bifida |
OMIM:161200 |
| Roberts-Sc Phocomelia Syndrome |
|
Tetraphocomelia, Atrial septal defect, Phocomelia, Wrist flexion contracture, Syndactyly, Hypopla... |
OMIM:268300 |
| Neu-Laxova Syndrome |
|
Intrauterine growth retardation, Spina bifida |
ORPHA:2671 |
| Phocomelia, Schinzel Type |
|
Intrauterine growth retardation, Meningocele, Short neck |
ORPHA:2879 |
| Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Cyanosis, Pulmonary arteriovenous malformation, Lip telangiectasia, ... |
OMIM:610655 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Cyanosis, Nail bed telangiectasia, Pulmonary arteriovenous malformat... |
OMIM:600376 |
| Specc1L-Related Hypertelorism Syndrome |
|
Finger syndactyly, Atrial septal defect, Ventricular septal defect, Cryptorchidism, Short toe, Pa... |
ORPHA:1519 |
| Microphthalmia, Syndromic 6 |
|
Finger syndactyly, Thumb contracture, Toe syndactyly, Female hypogonadism, Single transverse palm... |
OMIM:607932 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
Syndactyly, Short metacarpal, Cryptorchidism, Camptodactyly, Absent palmar crease |
OMIM:614230 |
| Limb-Mammary Syndrome |
|
Syndactyly, Absent nipple, Toe syndactyly, 3-4 finger cutaneous syndactyly, Bilateral breast hypo... |
ORPHA:69085 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Decreased serum insulin-like growth factor 1, Decreased circulating cortisol level, Decreased res... |
ORPHA:293978 |
| Acute Bilirubin Encephalopathy |
|
Abnormal thalamic MRI signal intensity |
ORPHA:529799 |
| Chronic Bilirubin Encephalopathy |
|
Abnormal thalamic MRI signal intensity |
ORPHA:529808 |
| Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Finger syndactyly, Broad hallux phalanx, Preaxial hand polydactyly, Exencephaly, B... |
ORPHA:2211 |
| Incontinentia Pigmenti |
|
Delayed eruption of teeth, Finger syndactyly, Camptodactyly of finger, Supernumerary nipple, Abno... |
ORPHA:464 |
| Myasthenia Gravis |
|
Acrocyanosis |
ORPHA:589 |
| Familial Dysautonomia |
|
Growth delay, Acrocyanosis |
ORPHA:1764 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Finger syndactyly, Toe syndactyly, Palmoplantar hyperkeratosis, Hypogonadism, Bilateral single tr... |
ORPHA:3253 |
| Cutis Marmorata Telangiectatica Congenita |
|
Finger syndactyly, Toe syndactyly, Patent ductus arteriosus, Abnormality of the upper limb, Intra... |
ORPHA:1556 |
| Fragile X-Associated Tremor/Ataxia Syndrome |
|
Hypothyroidism, Diffuse cerebellar atrophy, Abnormal brainstem morphology |
ORPHA:93256 |
| Dermatomyositis |
|
Telangiectasia of the skin, Edema, Periorbital edema, Erythema, Acrocyanosis, Cutaneous photosens... |
ORPHA:221 |
| Peters-Plus Syndrome |
|
Single transverse palmar crease, Bilobate gallbladder, Limited elbow movement, Proximal placement... |
OMIM:261540 |
| Adult Syndrome |
|
Finger syndactyly, Absent nipple, Toe syndactyly, Split foot, Hypoplastic nipples, Breast hypoplasia |
ORPHA:978 |
| Rapp-Hodgkin Syndrome |
|
Syndactyly, Supernumerary nipple, 2-3 toe cutaneous syndactyly, Palmoplantar keratoderma, Decreas... |
OMIM:129400 |
| Goldberg-Shprintzen Megacolon Syndrome |
|
Finger syndactyly |
ORPHA:66629 |
| Hutchinson-Gilford Progeria Syndrome |
|
Delayed eruption of teeth, Prominent superficial blood vessels, Cyanosis, Persistence of primary ... |
ORPHA:740 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Syndactyly, Streak ovary, Cryptorchidism, Dysplastic corpus callosum, Colpocephaly, Chiari malfor... |
OMIM:618820 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Patent ductus arteriosus, Torticollis, Atrioventricular canal defect, Spina bifida |
OMIM:619480 |
| Xq21 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Pi... |
ORPHA:1435 |
| Fraser Syndrome 3 |
|
Short toe, Stillbirth, Hydrocephalus, Cutaneous syndactyly |
OMIM:617667 |
| Unilateral Polymicrogyria |
|
Cyanosis, Pulmonary arteriovenous malformation |
ORPHA:268943 |
| Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Cyanosis |
OMIM:617239 |
| Doors Syndrome |
|
Small cerebellar cortex, Adrenal hyperplasia, Aplasia/Hypoplasia of the phalanges of the 2nd toe,... |
ORPHA:79500 |
| Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
2-3 toe cutaneous syndactyly, 3-4 finger cutaneous syndactyly, Cutaneous syndactyly, Talipes equi... |
OMIM:620029 |
| Hallermann-Streiff Syndrome |
|
Natal tooth, Spina bifida |
OMIM:234100 |
| Cranioectodermal Dysplasia 2 |
|
Syndactyly, Rhizomelia, Postaxial hand polydactyly, Patent ductus arteriosus, Bile duct prolifera... |
OMIM:613610 |
| Faciodigitogenital Syndrome, Autosomal Recessive |
|
Syndactyly, Down-sloping shoulders, Metatarsus adductus, Cryptorchidism, Broad palm, Short foot, ... |
OMIM:227330 |
| Bloom Syndrome |
|
Syndactyly, Cryptorchidism, Hand polydactyly, Type II diabetes mellitus, Clinodactyly of the 5th ... |
OMIM:210900 |
| Classical Ehlers-Danlos Syndrome |
|
Prematurely aged appearance, Poor wound healing, Joint swelling, Aortic root aneurysm, Blepharoch... |
ORPHA:287 |
| Lacrimoauriculodentodigital Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, Duplication of thumb phalanx, Absent thumb, Abnorm... |
ORPHA:2363 |
| 8Q21.11 Microdeletion Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Cryptorchidism, Abnormal metacarpal morphology, Absen... |
ORPHA:284160 |
| Aicardi-Goutières Syndrome |
|
Cutis marmorata, Short stature, Calcification of the aorta, Prolonged neonatal jaundice, Acrocyan... |
ORPHA:51 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Cyanosis |
ORPHA:99104 |
| Monosomy 13Q14 |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Holoprosencephaly, Clinodactyly of the 5th fi... |
ORPHA:1587 |
| Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Meningocele |
ORPHA:1010 |
| Saethre-Chotzen Syndrome |
|
Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di... |
OMIM:101400 |
| Degcags Syndrome |
|
Syndactyly, Toe syndactyly, Ventricular septal defect, Cryptorchidism, Short thumb, Preaxial hand... |
OMIM:619488 |
| Autosomal Dominant Popliteal Pterygium Syndrome |
|
Cryptorchidism, Split hand, Finger syndactyly, Toe syndactyly |
ORPHA:1300 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Hydrocephalus, Abnormal heart mor... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Hydrocephalus, Abnormal heart mor... |
ORPHA:363958 |
| Neurofibromatosis, Type I |
|
Aqueductal stenosis, Hydrocephalus, Spina bifida |
OMIM:162200 |
| Scalp-Ear-Nipple Syndrome |
|
Finger syndactyly, Cardiac myxoma, 3-4 finger cutaneous syndactyly, 2-3 toe syndactyly, Lateral v... |
OMIM:181270 |
| Dubowitz Syndrome |
|
Delayed eruption of teeth, Syndactyly, Single transverse palmar crease, Cryptorchidism, Clinodact... |
OMIM:223370 |
| Autosomal Dominant Robinow Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Micromelia, Coxa valga, Elbow dislocation, Cryptorchi... |
ORPHA:3107 |
| Aprosencephaly Syndrome |
|
Aprosencephaly, Anencephaly, Hand oligodactyly |
OMIM:207770 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Abnormality of the thyroid gland, Finger syndactyly, Abnormal mitral valve morphology, Genu varum |
ORPHA:1969 |
| Coffin-Siris Syndrome 12 |
|
Hip subluxation, Cryptorchidism, Short thumb, Slender finger, Patent foramen ovale, Noncommunicat... |
OMIM:619325 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormality of the endocrine system, Cryptorchi... |
ORPHA:438213 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Cerebellar vermis hypoplasia, Bicuspid aortic valve, Calcaneovalgus deformity, Chiari type I malf... |
ORPHA:261537 |
| Holoprosencephaly 2 |
|
Adrenal hypoplasia, Alobar holoprosencephaly, Agenesis of corpus callosum, Semilobar holoprosence... |
OMIM:157170 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Primary adrenal insufficiency, Thy... |
ORPHA:227982 |
| Monosomy 22 |
|
Finger syndactyly, Aplasia of the thymus, Single transverse palmar crease, Clubbing, Clinodactyly... |
ORPHA:96123 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Pulmonary artery atresia, Patent ductus arteriosus, Cyanosis, Double aortic arch |
ORPHA:216694 |
| Split Cord Malformation |
|
Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus |
ORPHA:573278 |
| Campomelic Dysplasia |
|
Hydrocephalus, Abnormal heart morphology, Spina bifida, Spinal dysraphism |
OMIM:114290 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Finger syndactyly, Ventricular septal defect, Supernumerary nipple, Pa... |
ORPHA:1071 |
| Orofaciodigital Syndrome Type 4 |
|
Decreased testicular size, Finger syndactyly, Monorchism, Camptodactyly of finger, Micromelia, Pr... |
ORPHA:2753 |
| Knobloch Syndrome 1 |
|
Occipital meningocele, Occipital encephalocele, Patent ductus arteriosus, Spina bifida occulta |
OMIM:267750 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Hypergonadotropic hypogonadism, Primary adrenal insufficiency, Anterior pituitary dysgenesis, Thy... |
ORPHA:227990 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hyperextensibility of the finger joints, Internally rotated shoulders, Decreased response to grow... |
OMIM:619503 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Cerebellar vermis hypoplasia, Bicuspid aortic valve, Calcaneovalgus deformity, Chiari type I malf... |
ORPHA:261552 |
| Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Finger syndactyly, Ventricular septal defect, Cryptorchidism, 2-3 toe syndactyly, Aortopulmonary ... |
OMIM:620025 |
| Aicardi Syndrome |
|
Spina bifida |
OMIM:304050 |
| Marfan Syndrome |
|
Mitral valve calcification, Meningocele, Mitral valve prolapse |
ORPHA:558 |
| Microform Holoprosencephaly |
|
Maternal diabetes, Panhypopituitarism, Agenesis of corpus callosum, Holoprosencephaly, Intrauteri... |
ORPHA:280200 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Syndactyly, Unilateral brachydactyly, Aplasia/Hypoplasia involving the shoulder musculature, Supe... |
ORPHA:1521 |
| Postinfectious Vasculitis |
|
Palpable purpura, Acrocyanosis, Cutis marmorata, Vasculitis in the skin |
ORPHA:48435 |
| Primary Hyperoxaluria |
|
Acrocyanosis, Cutis marmorata |
ORPHA:416 |
| Mckusick-Kaufman Syndrome |
|
Syndactyly, Congenital hip dislocation, Mesoaxial hand polydactyly, Cryptorchidism, Postaxial han... |
OMIM:236700 |
| Mowat-Wilson Syndrome |
|
Cerebellar vermis hypoplasia, Bicuspid aortic valve, Calcaneovalgus deformity, Agenesis of corpus... |
ORPHA:2152 |
| Autosomal Recessive Faciodigitogenital Syndrome |
|
Finger syndactyly, Down-sloping shoulders, Short foot, Clinodactyly of the 5th finger, Brachydactyly |
ORPHA:1974 |
| Trichorhinophalangeal Syndrome, Type Ii |
|
Syndactyly, Scapular winging, Short metacarpal, Bicuspid aortic valve, Single transverse palmar c... |
OMIM:150230 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Syndactyly |
OMIM:224120 |
| Proteus Syndrome |
|
Hallux valgus, Finger syndactyly, Thymus hyperplasia, Macrodactyly, Testicular neoplasm, Metatars... |
ORPHA:744 |
| Hereditary Acrokeratotic Poikiloderma |
|
Finger syndactyly, Camptodactyly of finger, Palmoplantar hyperkeratosis, Abnormal hip bone morpho... |
ORPHA:2907 |
| Exstrophy-Epispadias Complex |
|
Hydrocephalus, Spina bifida, Abnormal heart morphology |
ORPHA:322 |
| Bickerstaff Brainstem Encephalitis |
|
Abnormal thalamic MRI signal intensity |
ORPHA:79138 |
| Hennekam Syndrome |
|
Pericardial effusion, Finger syndactyly, Camptodactyly of finger, Delayed eruption of teeth |
ORPHA:2136 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Cyanosis, Pulmonary artery stenosis, Patent ductus arteriosus, Hypoplastic aortic arch, Coarctati... |
ORPHA:99125 |
| Coffin-Lowry Syndrome |
|
Acrocyanosis, Cutis marmorata, Short stature |
OMIM:303600 |
| Otopalatodigital Syndrome, Type Ii |
|
Spina bifida, Short neck, Hydrocephalus, Atrial septal defect, Umbilical hernia |
OMIM:304120 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Cerebellar vermis hypoplasia, Sandal gap, Ventricular septal defect, Long fingers, Cutaneous synd... |
OMIM:620330 |
| Igg4-Related Ophthalmic Disease |
|
Orchitis, Abnormality of the anterior pituitary, Enlarged lacrimal glands, Thyroiditis, Sialadenitis |
ORPHA:449563 |
| Norrie Disease |
|
Diabetes mellitus, Cryptorchidism, Delayed puberty, Aplasia/Hypoplasia of the cerebellum, Abnorma... |
ORPHA:649 |
| Igg4-Related Kidney Disease |
|
Sialadenitis, Abnormality of the anterior pituitary, Thyroiditis, Pericarditis |
ORPHA:449395 |
| Fraser Syndrome 2 |
|
Hypoplasia of the thymus, Cutaneous syndactyly |
OMIM:617666 |
| Hypermobile Ehlers-Danlos Syndrome |
|
Acrocyanosis, Ascending tubular aorta aneurysm, Umbilical hernia |
ORPHA:285 |
| Kindler Epidermolysis Bullosa |
|
Finger syndactyly, Camptodactyly of finger, Palmoplantar keratoderma, Short 4th metacarpal, Short... |
ORPHA:2908 |
| Fraser Syndrome |
|
Encephalocele, Finger syndactyly, Toe syndactyly, Cryptorchidism, Myelomeningocele, Umbilical her... |
ORPHA:2052 |
| Goodpasture Syndrome |
|
Cyanosis |
OMIM:233450 |
| Kallmann Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... |
ORPHA:478 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Occipital meningocele, Broad neck, Short neck |
OMIM:276820 |
| Microphthalmia, Syndromic 1 |
|
Syndactyly, Bicuspid aortic valve, Abnormal palmar dermatoglyphics, Down-sloping shoulders, Crypt... |
OMIM:309800 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Eunuchoid habitus |
ORPHA:432 |
