Syndactyly Type 2 |
|
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... |
ORPHA:93403 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... |
OMIM:205950 |
Craniofacial Conodysplasia |
|
Spinal cord compression, Hydrocephalus, Cone-shaped epiphyses of the phalanges of the hand |
ORPHA:85168 |
Syndactyly, Type Iv |
|
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... |
OMIM:186200 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Triphalangeal Thumb, Nonopposable |
|
Polydactyly, Triphalangeal thumb |
OMIM:190600 |
Polydactyly, Preaxial Ii |
|
Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... |
OMIM:174500 |
Synpolydactyly 1 |
|
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... |
OMIM:186000 |
Polydactyly, Postaxial, Type A1 |
|
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... |
OMIM:174200 |
Brachydactyly, Type C |
|
Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco... |
OMIM:113100 |
Intrinsic Factor Deficiency |
|
Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo... |
OMIM:261000 |
Congenital Radioulnar Synostosis |
|
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... |
ORPHA:3269 |
Polydactyly, Preaxial Iv |
|
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... |
OMIM:174700 |
Triphalangeal Thumb With Polysyndactyly |
|
Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br... |
OMIM:190605 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... |
OMIM:616689 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery... |
OMIM:206100 |
Polydactyly, Postaxial, Type A10 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Postaxial polydactyly type A |
OMIM:618498 |
Camptosynpolydactyly, Complex |
|
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly |
OMIM:607539 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... |
OMIM:619041 |
Hallux Varus And Preaxial Polysyndactyly |
|
Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus |
OMIM:234280 |
Santos Syndrome |
|
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... |
OMIM:613005 |
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha... |
OMIM:618167 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Neonatal hyperbilirubinemia, Anemia of inad... |
ORPHA:3202 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Nevus Comedonicus Syndrome |
|
Finger syndactyly, Toe syndactyly, Spina bifida, Preaxial polydactyly, Spina bifida occulta |
ORPHA:64754 |
Familial Pseudohyperkalemia |
|
Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly... |
ORPHA:90044 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... |
ORPHA:232 |
Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
Czeizel-Losonci Syndrome |
|
Thickened nuchal skin fold, Hitchhiker thumb, Dextrocardia, Spina bifida, Single transverse palma... |
ORPHA:2437 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Syndactyly, Abnormal heart morphology, Upper limb phocomelia, Abnormality of the neck, Stillbirth... |
ORPHA:294975 |
Split-Hand/Foot Malformation 1 |
|
Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Cleft palate, Split foot, Foot oligodact... |
OMIM:183600 |
Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
Split-Hand/Foot Malformation 4 |
|
Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th... |
OMIM:605289 |
Polydactyly, Preaxial Iii |
|
Preaxial polydactyly, Triphalangeal thumb |
OMIM:174600 |
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome |
|
Aplasia/Hypoplasia of the phalanges of the 3rd toe, Mesoaxial foot polydactyly, 1-2 toe syndactyl... |
ORPHA:488232 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias |
OMIM:620044 |
Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... |
ORPHA:93405 |
Hunter-Macdonald Syndrome |
|
Aortic regurgitation, Epiphyseal dysplasia, Inguinal hernia, Bicuspid aortic valve, Metatarsus ad... |
OMIM:611962 |
Polydactyly, Preaxial I |
|
Preaxial hand polydactyly, Partial duplication of thumb phalanx, Radial deviation of thumb termin... |
OMIM:174400 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Increased serum... |
ORPHA:98870 |
Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612563 |
Joubert Syndrome 15 |
|
Preaxial polydactyly, Exencephaly |
OMIM:614464 |
Ectrodactyly-Polydactyly Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t... |
ORPHA:1892 |
Mend Syndrome |
|
Thickened nuchal skin fold, Broad hallux, Overlapping toe, Cryptorchidism, Hydrocephalus, Long fi... |
ORPHA:401973 |
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 |
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Occipital encephalocele, Postaxial polydactyly |
OMIM:213010 |
Fibular Hemimelia |
|
Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Arthralgia of the hip, Finger ... |
ORPHA:93323 |
Melnick-Needles Syndrome |
|
Omphalocele, Short humerus, Hypoplastic scapulae, Coxa valga, Long neck, Flared metaphysis, Hip d... |
OMIM:309350 |
Split-Foot Malformation With Mesoaxial Polydactyly |
|
1-2 toe syndactyly, Mesoaxial hand polydactyly, 4-5 toe syndactyly, Split hand, Split foot |
OMIM:616890 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Jawad Syndrome |
|
Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, 4-5 toe synd... |
OMIM:251255 |
Mend Syndrome |
|
Redundant neck skin, Broad hallux, Overlapping toe, Cryptorchidism, Hydrocephalus, Long fingers, ... |
OMIM:300960 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Anisocytosis, Conjugated hyperbilirubinemia, Splenomegaly, Increased circulating ferritin concent... |
OMIM:616860 |
Split hand/foot malformation 1 (SHFM1) |
|
Toe syndactyly, Split hand, 2-3 toe syndactyly, Cleft palate, Cutaneous finger syndactyly, Split ... |
DECIPHER:46 |
Split-Hand/Foot Malformation 6 |
|
Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly |
OMIM:225300 |
Triphalangeal Thumbs With Brachyectrodactyly |
|
Short 3rd toe, Split hand, Split foot, Triphalangeal thumb, Short 2nd finger, Brachydactyly |
OMIM:190680 |
Acropectoral Syndrome |
|
Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb |
OMIM:605967 |
Polydactyly, Postaxial, Type A5 |
|
Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis |
OMIM:263450 |
Aphalangy-Syndactyly-Microcephaly Syndrome |
|
Toe syndactyly, Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, ... |
ORPHA:1113 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Syndactyly-Polydactyly-Earlobe Syndrome |
|
Broad toe, Preaxial hand polydactyly, 1-2 toe complete cutaneous syndactyly, Preaxial foot polyda... |
OMIM:186350 |
Orofaciodigital Syndrome Xviii |
|
Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Preaxial polydactyly, Genu va... |
OMIM:617927 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Methylmalonic acidemia, Hypomethioninemia, Spastic ataxia, Megaloblastic anemia, Hyperhomocystine... |
OMIM:277410 |
Bardet-Biedl Syndrome 11 |
|
Polydactyly |
OMIM:615988 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Decr... |
OMIM:615234 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Small hypothenar eminence, Spina bifida, Dermatoglyphic ridges abnormal, Mitral valve prolapse, S... |
OMIM:211960 |
Split-Foot Deformity With Mandibulofacial Dysostosis |
|
Split hand, Toe syndactyly, Cleft palate, Split foot |
OMIM:183700 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volum... |
OMIM:185000 |
Bardet-Biedl Syndrome 5 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615983 |
Greig Cephalopolysyndactyly Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Hydrocephalus... |
ORPHA:380 |
Meckel Syndrome, Type 11 |
|
Occipital encephalocele, Polydactyly |
OMIM:615397 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
Polydactyly, Postaxial, Type A8 |
|
Postaxial polydactyly, Genu valgum |
OMIM:618123 |
Bardet-Biedl Syndrome 14 |
|
Polydactyly |
OMIM:615991 |
Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia |
OMIM:618849 |
Preaxial Hallucal Polydactyly |
|
Preaxial hand polydactyly, Preaxial foot polydactyly |
OMIM:601759 |
Synpolydactyly 2 |
|
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... |
OMIM:608180 |
Holt-Oram Syndrome |
|
Finger syndactyly, Paroxysmal atrial fibrillation, Ventricular septal defect, Down-sloping should... |
ORPHA:392 |
Split-Hand/Foot Malformation 2 |
|
Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger |
OMIM:313350 |
Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Bardet-Biedl Syndrome 13 |
|
Polydactyly |
OMIM:615990 |
Biemond Syndrome Type 2 |
|
Hydrocephalus, Preaxial polydactyly |
ORPHA:141333 |
Mosaic Trisomy 20 |
|
Ventricular septal defect, Down-sloping shoulders, Cryptorchidism, Abnormal spinal cord morpholog... |
ORPHA:1724 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Hy... |
OMIM:617021 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Spinal cord compression, Myelopathy |
OMIM:602475 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pancytopenia, Ataxia, Megaloblastic anemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:613839 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Syndactyly, Inguinal hernia, Down-sloping shoulders, Metatarsus adductus, Cryptorchidism, Long ne... |
OMIM:227330 |
Acropectoral Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly |
ORPHA:85203 |
Hartsfield Syndrome |
|
Encephalocele, Split hand, Cleft palate, Lobar holoprosencephaly, Aplasia/Hypoplasia of the radius |
ORPHA:2117 |
Moebius Syndrome |
|
Syndactyly, Brachydactyly, Short neck, Split hand, Dysphagia, Bifid uvula, Abnormal pelvic girdle... |
OMIM:157900 |
Oslam Syndrome |
|
Increased mean corpuscular volume, Abnormality of neutrophils |
ORPHA:2760 |
Finnish Upper Limb-Onset Distal Myopathy |
|
Split hand, Intrinsic hand muscle atrophy, Cardiomyopathy, Joint contracture of the hand, Weaknes... |
ORPHA:399086 |
Mmep Syndrome |
|
Cryptorchidism, Split foot, Ventricular septal defect, Triphalangeal thumb |
ORPHA:3434 |
Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Finger syndactyly, 2-5 finger cutaneous syndactyly, Toe syndactyly, Small hypothenar eminence, Ab... |
ORPHA:3246 |
Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia |
OMIM:617948 |
Ectrodactyly-Polydactyly |
|
Split hand, Postaxial hand polydactyly, Split foot |
OMIM:225290 |
Gollop-Wolfgang Complex |
|
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... |
ORPHA:1986 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Spina bifida, Triphalangeal thumb,... |
ORPHA:957 |
Femur-Fibula-Ulna Complex |
|
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi... |
ORPHA:2019 |
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features |
|
Down-sloping shoulders, Short neck, Long fingers, 2-3 toe cutaneous syndactyly, Long neck, Cleft ... |
OMIM:301091 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Omphalocele, Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyl... |
ORPHA:3329 |
2Q31.1 Microdeletion Syndrome |
|
Short neck, Abnormal tibia morphology, Coloboma, Short palm, Clinodactyly of the 5th finger, Atri... |
ORPHA:251014 |
Adams-Oliver Syndrome |
|
Encephalocele, Finger syndactyly, Brachydactyly, Gastrointestinal hemorrhage, Abnormal pulmonary ... |
ORPHA:974 |
Lambert Syndrome |
|
Branchial anomaly, Ventricular septal defect |
ORPHA:1296 |
Tetramelic Monodactyly |
|
Split foot, Split hand, Foot monodactyly, Hand monodactyly |
OMIM:187510 |
Cooks Syndrome |
|
Split hand, Broad thumb, Triphalangeal thumb, Brachydactyly |
ORPHA:1487 |
Hydrolethalus Syndrome 2 |
|
Hydrocephalus, Postaxial hand polydactyly, Anencephaly, Postaxial foot polydactyly, Preaxial foot... |
OMIM:614120 |
Split-Hand/Foot Malformation 1 With Sensorineural Hearing Loss, Autosomal Recessive |
|
Split foot, Split hand, Tapered finger |
OMIM:220600 |
Greig Cephalopolysyndactyly Syndrome |
|
Broad hallux phalanx, Broad hallux, 1-3 toe syndactyly, Cryptorchidism, Hydrocephalus, Preaxial h... |
OMIM:175700 |
Ring Chromosome 4 Syndrome |
|
Aplasia/Hypoplasia of the radius, Split hand, Abnormality of the upper limb, Abnormal morphology ... |
ORPHA:1447 |
Bardet-Biedl Syndrome 7 |
|
Clinodactyly, Polydactyly, 2-3 toe syndactyly, Postaxial polydactyly |
OMIM:615984 |
Acrorenal Syndrome |
|
Abnormal morphology of ulna, Abnormal tibia morphology, Split hand, Cleft palate, Aplasia/Hypopla... |
ORPHA:971 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ventricular septal defect, Spina bifida, Anencephaly, Cleft palate, Aplasia/Hypoplasia of the rad... |
ORPHA:2476 |
Postaxial Tetramelic Oligodactyly |
|
Abnormal finger morphology, Ectrodactyly, Oligodactyly, Abnormal metacarpal morphology |
ORPHA:2730 |
Focal Dermal Hypoplasia |
|
Abnormal palmar dermatoglyphics, Gastroesophageal reflux, Chorioretinal coloboma, Iris coloboma, ... |
ORPHA:2092 |
Charlie M Syndrome |
|
Finger syndactyly, Split hand, Triphalangeal thumb, Abnormal metacarpal morphology, Brachydactyly |
ORPHA:1406 |
Methylcobalamin Deficiency Type Cble |
|
Hypomethioninemia, Macrocytic anemia, Pancytopenia, Hyperhomocystinemia, Increased mean corpuscul... |
ORPHA:2169 |
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts |
|
Split foot, Split hand, Hand monodactyly |
OMIM:183800 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Syndactyly, Inguinal hernia, Cryptorchidism, Cleft palate, Short 5th finger, Polydactyly, Small p... |
ORPHA:397590 |
Mucopolysaccharidosis, Type Ii |
|
Hepatomegaly, Inguinal hernia, Abnormal heart valve morphology, Intestinal pseudo-obstruction, Sh... |
OMIM:309900 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Ventricular septal defect, Hypoplastic right heart, Overlapping toe, Postaxial polydactyly, Paten... |
OMIM:618142 |
Split-Hand And Split-Foot With Hypodontia |
|
Split hand, Split foot |
OMIM:183500 |
Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Short neck, Short ... |
ORPHA:2756 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Hypokal... |
OMIM:611590 |
Carpenter Syndrome |
|
Finger syndactyly, Syndactyly, Toe syndactyly, Cryptorchidism, Patent ductus arteriosus, Postaxia... |
ORPHA:65759 |
Fibular Aplasia-Ectrodactyly Syndrome |
|
Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula |
ORPHA:1118 |
Trisomy 13 |
|
Ventricular septal defect, Cryptorchidism, Postaxial hand polydactyly, High, narrow palate, Paten... |
ORPHA:3378 |
Occipital Horn Syndrome |
|
Short humerus, Orthostatic hypotension, Pelvic bone exostoses, Coxa valga, Hiatus hernia, Capitat... |
OMIM:304150 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Finger syndactyly, Down-sloping shoulders, Long neck, Short foot, High palate, Clinodactyly of th... |
ORPHA:1974 |
Ulnar Hemimelia |
|
Glenoid fossa hypoplasia, Limited elbow movement, Abnormal calcification of the carpal bones, Apl... |
ORPHA:93320 |
Acalvaria |
|
Hydrocephalus, Holoprosencephaly, Spina bifida, Postaxial hand polydactyly |
ORPHA:945 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Communicating hydrocephalus, Arachnodactyly, Long neck, Large hands, High palate |
OMIM:617011 |
Anonychia-Ectrodactyly |
|
Split hand, Aplasia of metacarpal bones |
OMIM:106900 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Radial bowing, Single transverse palmar crease, Micromelia, Postaxial polydactyly, Hydrocephalus,... |
OMIM:617866 |
Thoraco-Abdominal Enteric Duplication |
|
Hepatomegaly, Dextrocardia, Camptodactyly of finger, Intestinal malrotation, Diastomatomyelia, Me... |
ORPHA:1759 |
Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Micromelia, Split hand, Cleft palate, Webbed neck, Brachydactyly |
ORPHA:2145 |
Opitz-Kaveggia Syndrome |
|
Single transverse palmar crease, Short neck, Anteriorly placed anus, Prominent fingertip pads, Sy... |
OMIM:305450 |
Postaxial Oligodactyly, Tetramelic |
|
Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat... |
OMIM:176240 |
Phocomelia, Schinzel Type |
|
Bowing of the long bones, Radial bowing, Micromelia, Aplasia of the ulna, Short neck, Cryptorchid... |
ORPHA:2879 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Bicuspid aortic valve, Spina bifida, Proximal placement of thumb, Abnormal thumb morphology, Shor... |
ORPHA:1120 |
X-Linked Intellectual Disability, Siderius Type |
|
Preaxial hand polydactyly, Cryptorchidism, Low posterior hairline, Large hands, Decreased testicu... |
ORPHA:85287 |
Biemond Syndrome Ii |
|
Preaxial hand polydactyly, Hydrocephalus |
OMIM:210350 |
Bardet-Biedl Syndrome 10 |
|
Polydactyly |
OMIM:615987 |
Thanatophoric Dysplasia Type 1 |
|
Bowing of the long bones, Short femur, Micromelia, Hypoplastic ilia, Abnormal sacroiliac joint mo... |
ORPHA:1860 |
Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o... |
ORPHA:93322 |
Pentalogy Of Cantrell |
|
Encephalocele, Omphalocele, Ventricular septal defect, Abnormal pericardium morphology, Hydroceph... |
ORPHA:1335 |
Ivic Syndrome |
|
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab... |
OMIM:147750 |
Otofaciocervical Syndrome 1 |
|
Long neck, Scapular winging, High palate, Down-sloping shoulders |
OMIM:166780 |
Otopalatodigital Syndrome Type 2 |
|
Encephalocele, Bowing of the long bones, Abnormal heart valve morphology, Tarsal synostosis, Shor... |
ORPHA:90652 |
Microgastria-Limb Reduction Defect Syndrome |
|
Congenital muscular torticollis, Abnormal finger morphology, Gastroesophageal reflux, Atrial sept... |
ORPHA:2538 |
Autosomal Dominant Spastic Paraplegia Type 17 |
|
Hand muscle atrophy, Split hand, Hand muscle weakness |
ORPHA:100998 |
Mucopolysaccharidosis, Type Vi |
|
Metaphyseal widening, Hypoplastic iliac wing, Hepatomegaly, Tricuspid regurgitation, Split hand, ... |
OMIM:253200 |
Diamond-Blackfan Anemia 6 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:612561 |
Charcot-Marie-Tooth Disease, Type 4B2 |
|
Ulnar claw, Hammertoe, Split hand, Talipes equinovarus |
OMIM:604563 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Increased circulating ferritin concentration, Anisopoikilocytosis, Reticulocytopenia, Hepatosplen... |
ORPHA:300298 |
Charcot-Marie-Tooth Disease And Deafness |
|
Thenar muscle weakness, Hammertoe, Split hand, Thenar muscle atrophy |
OMIM:118300 |
Solitary Bone Cyst |
|
Abnormal tibia morphology, Abnormal spinal cord morphology, Abnormal pubic bone morphology, Proxi... |
ORPHA:83468 |
Fatco Syndrome |
|
Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma... |
ORPHA:2492 |
Humero-Radial Synostosis |
|
Aplasia/Hypoplasia of the thumb, Tarsal synostosis, Elbow dislocation, Meningocele, Abnormality o... |
ORPHA:3265 |
Eem Syndrome |
|
Finger syndactyly, Ectrodactyly |
ORPHA:1897 |
Limb Body Wall Complex |
|
Cutaneous finger syndactyly, Aplasia of the proximal phalanges of the hand, Atrial septal defect,... |
ORPHA:2369 |
Limb Defects, Distal Transverse, With Mental Retardation And Spasticity |
|
Split hand |
OMIM:246555 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Short metatarsal, Patellar hypo... |
OMIM:609945 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
Ulnar Hypoplasia-Split Foot Syndrome |
|
Split hand, Aplasia/Hypoplasia of the radius, Split foot, Hypoplasia of the ulna |
ORPHA:1122 |
Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Short humerus, Micromelia, Postaxial hand polydactyly, Split hand, Abnormality of the elbow, Apla... |
ORPHA:2491 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Ulnar claw, Hammertoe, Split hand |
OMIM:118220 |
Mucolipidosis Ii Alpha/Beta |
|
Cardiomegaly, Metaphyseal widening, Hepatomegaly, Split hand, Flat acetabular roof, Flared iliac ... |
OMIM:252500 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Abnormal anterior horn cell morphology, Rocker bottom foot, Single transverse palmar crease, Shor... |
OMIM:611890 |
Isolated Klippel-Feil Syndrome |
|
Congenital muscular torticollis, Ventricular septal defect, Spina bifida, Short neck, Cleft palat... |
ORPHA:2345 |
Wiedemann-Rautenstrauch Syndrome |
|
Long toe, Short humerus, Short femur, Short neck, Secundum atrial septal defect, Cryptorchidism, ... |
OMIM:264090 |
Meckel Syndrome, Type 2 |
|
Encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Meningocele, Anencephaly, Po... |
OMIM:603194 |
Charcot-Marie-Tooth Disease Type 4D |
|
Hammertoe, Split hand, Distal upper limb muscle weakness, Upper limb amyotrophy |
ORPHA:99950 |
Acrocardiofacial Syndrome |
|
Hallux valgus, Finger syndactyly, Toe syndactyly, Mitral stenosis, Ventricular septal defect, Cam... |
ORPHA:2008 |
Split-Hand/Foot Malformation 3 |
|
Split hand, High palate, Cleft palate, Camptodactyly |
OMIM:246560 |
Charcot-Marie-Tooth Disease, Axonal, Type 2K |
|
Split hand, Talipes equinovarus |
OMIM:607831 |
Jackson-Weiss Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Short metatarsal, 2-3 toe syndactyly, Symphalangism affecti... |
ORPHA:1540 |
Acces Syndrome |
|
Hip dislocation, Tracheoesophageal fistula, Hip dysplasia, Split foot, Ectrodactyly, Clinodactyly... |
OMIM:619959 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... |
OMIM:102510 |
Myopathy, Distal, 3 |
|
Joint contracture of the hand, Split hand |
OMIM:610099 |
Limb-Mammary Syndrome |
|
Hallux valgus, Syndactyly, Split hand, Cleft palate, Split foot, Camptodactyly, Joint contracture... |
OMIM:603543 |
Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
Duane-Radial Ray Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Upper limb muscle hypoplasia, Ventricular septal defect, Radi... |
OMIM:607323 |
Spastic Paraplegia 17, Autosomal Dominant |
|
Thenar muscle weakness, Split hand, Thenar muscle atrophy |
OMIM:270685 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Communicating hydrocephalus, High palate, Arachnodactyly, Long neck |
ORPHA:457359 |
Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Abnormal circulating protein concentration, Anemia of inadequate producti... |
ORPHA:86839 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Ventricular septal defect, Mic... |
ORPHA:1908 |
Congenital Vertical Talus |
|
Myelomeningocele, Rocker bottom foot, Equinus calcaneus |
ORPHA:178382 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
Majeed Syndrome |
|
Anemia of inadequate production, Microcytic anemia, Hepatosplenomegaly, Decreased mean corpuscula... |
OMIM:609628 |
Zaki Syndrome |
|
Toe syndactyly, Long fingers, Patent ductus arteriosus, Ectrodactyly, High palate, Broad distal p... |
OMIM:619648 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
|
Ulnar claw, Hammertoe, Split hand |
OMIM:118200 |
Endocrine-Cerebroosteodysplasia |
|
Natal tooth, Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Single transverse palm... |
OMIM:612651 |
Microphthalmia, Isolated 4 |
|
Postaxial polydactyly |
OMIM:613094 |
Meckel Syndrome, Type 3 |
|
Occipital encephalocele, Postaxial hand polydactyly, Hydrocephalus, Postaxial foot polydactyly, P... |
OMIM:607361 |
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
High, narrow palate, Split hand |
OMIM:618124 |
Coloboma Of Macula With Type B Brachydactyly |
|
Type B brachydactyly, Bifid distal phalanx of the thumb, Coloboma, Absent distal phalanges, Broad... |
OMIM:120400 |
Alopecia-Intellectual Disability Syndrome |
|
Split hand, Brachydactyly |
ORPHA:2850 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Micromelia, Short neck, Aplastic clavicle, Postaxial polydactyly, Hydrocephalus, Anencephaly, Pre... |
OMIM:616546 |
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Hypoplasia of the ulna, Radial club hand, Ulnar b... |
ORPHA:2878 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Encephalocele, Natal tooth, Rhizomelia, Postaxial polydactyly, Cryptorchidism, Patent ductus arte... |
OMIM:616300 |
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Cryptorchidism, Cleft palate, Ectrodactyly, Clinodactyly, Iris coloboma |
OMIM:147950 |
Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad... |
ORPHA:2378 |
Bardet-Biedl Syndrome 4 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615982 |
Brown-Vialetto-Van Laere Syndrome 2 |
|
Split hand, Dysphagia |
OMIM:614707 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Neonatal death, Split hand |
OMIM:610127 |
Autosomal Recessive Robinow Syndrome |
|
Short neck, Abnormal tricuspid valve morphology, Clinodactyly of the 5th finger, Atrial septal de... |
ORPHA:1507 |
Verheij Syndrome |
|
Branchial cyst, Ventricular septal defect, Short neck, Clinodactyly, Hip dislocation, Short 5th f... |
OMIM:615583 |
Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Short neck, Aplasia of the pectoralis major muscle, Atrial septa... |
ORPHA:2911 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Elbow dislocation, Ulnar bowing, S... |
OMIM:171480 |
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Proximal muscle weakness in upper limbs, Hand muscle weakness, Split hand, Intrinsic hand muscle ... |
ORPHA:101097 |
Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Short distal phalanx of finger |
OMIM:609166 |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Branchial cyst, Finger syndactyly, Single transverse palmar crease, Tapered finger, Cryptorchidis... |
ORPHA:435938 |
Charcot-Marie-Tooth Disease, Dominant Intermediate G |
|
Split hand |
OMIM:617882 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Bowing of the long bones, Ventricular septal defect, Hydrocephalus, Meningocele, A... |
OMIM:611134 |
Carpenter Syndrome 1 |
|
Duplication of the proximal phalanx of the hallux, Short neck, Clinodactyly of the 5th finger, At... |
OMIM:201000 |
Schisis Association |
|
Encephalocele, Omphalocele, Spina bifida, Micromelia, Anencephaly, Tracheoesophageal fistula, Cle... |
ORPHA:63862 |
Tetramelic Monodactyly |
|
Split hand, Oligodactyly |
ORPHA:2564 |
2Q24 Microdeletion Syndrome |
|
Toe syndactyly, Camptodactyly of finger, Short neck, Long fingers, Bullet-shaped distal phalanx o... |
ORPHA:1617 |
Isolated Split Hand-Split Foot Malformation |
|
Finger syndactyly, Split hand, Absent hand, Aniridia, Oligodactyly |
ORPHA:2440 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Narrow femoral neck, Congenital hip dislocation, Delayed phalangeal epiphyseal ossification, Long... |
OMIM:603546 |
Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Short neck, Pericardial effusion, Polydactyly, Talipes eq... |
OMIM:613885 |
Triploidy |
|
Omphalocele, Hepatomegaly, Finger syndactyly, Intestinal malrotation, Short neck, Cryptorchidism,... |
ORPHA:3376 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Z |
|
Split hand, Intrinsic hand muscle atrophy |
OMIM:616688 |
Frontonasal Dysplasia 1 |
|
Postaxial hand polydactyly, Anterior basal encephalocele, Coloboma, Pectoral muscle hypoplasia/ap... |
OMIM:136760 |
Mucopolysaccharidosis Type 1 |
|
Inguinal hernia, Abnormal heart valve morphology, Malabsorption, Splenomegaly, Hydrocephalus, Spl... |
ORPHA:579 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Preaxial foot polydactyly, Postaxial hand polydactyly, Triphalangeal thumb |
ORPHA:2091 |
Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Ulnar claw, Hammertoe, Split hand |
OMIM:145900 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Hip contracture, Interphalangeal joint contracture of finger, Protrusio acetabuli, Metaphyseal wi... |
OMIM:259600 |
Joubert Syndrome 16 |
|
Encephalocele, Polydactyly |
OMIM:614465 |
Partial Atrioventricular Septal Defect |
|
Bicuspid aortic valve, Heterotaxy, Abnormal tricuspid valve morphology, Bacterial endocarditis, A... |
ORPHA:1330 |
Joubert Syndrome 18 |
|
Occipital encephalocele, Trident pelvis, Bowing of the long bones, Ventricular septal defect, Pos... |
OMIM:614815 |
Focal Dermal Hypoplasia |
|
Congenital hip dislocation, Osteopathia striata, Short metatarsal, Anteriorly placed anus, Foot o... |
OMIM:305600 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt... |
OMIM:616959 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Ataxia, Anemia, Leukopenia, Increased mean corpuscular volume, Lymphopenia, Thro... |
OMIM:127550 |
Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Aplasia/Hypoplasia of the tongue... |
ORPHA:958 |
Cardiomyopathy, Dilated, 1I |
|
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... |
OMIM:604765 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Hallux valgus, Dislocation of toes, Congenital hip dislocation, Left atr... |
OMIM:300280 |
Pelvis-Shoulder Dysplasia |
|
Syndactyly, Camptodactyly of finger, Spina bifida, Aplasia/Hypoplasia of the fibula, Mesomelic/rh... |
ORPHA:2839 |
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 |
Renpenning Syndrome |
|
Abnormal thumb morphology, High, narrow palate, Cleft palate, Heterotaxy, Clinodactyly of the 5th... |
ORPHA:3242 |
Aplasia Cutis Congenita |
|
Finger syndactyly, Toe syndactyly, Spinal dysraphism |
ORPHA:1114 |
Absent Radius-Anogenital Anomalies Syndrome |
|
Hydrocephalus, Hypoplasia of the radius, Rectal atresia, Perineal fistula, Ectrodactyly, Rectovag... |
ORPHA:3016 |
Cantu Syndrome |
|
Bicuspid aortic valve, Broad hallux, Short hallux, Cardiomegaly, Pericardial effusion, Coxa valga... |
OMIM:239850 |
Wildervanck Syndrome |
|
Webbed neck, Meningocele, Low posterior hairline, Short neck |
ORPHA:3456 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Split hand |
ORPHA:168486 |
X-Linked Mandibulofacial Dysostosis |
|
Cryptorchidism, Branchial anomaly, Pulmonic stenosis, Webbed neck, Abnormal mitral valve morphology |
ORPHA:1131 |
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism |
|
Preaxial hand polydactyly, Interphalangeal joint contracture of finger |
OMIM:606242 |
Smith-Lemli-Opitz Syndrome |
|
Proximal placement of thumb, Short neck, Gastroesophageal reflux, Holoprosencephaly, Atrial septa... |
ORPHA:818 |
Hemihyperplasia, Isolated |
|
Myelomeningocele |
OMIM:235000 |
Bardet-Biedl Syndrome 9 |
|
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Polyda... |
OMIM:615986 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Hydrocephalus, Congestive heart failure, High palate, M... |
OMIM:269920 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Talipes equinovarus, Split hand, Decreased testicular size |
OMIM:604168 |
Acromelic Frontonasal Dysostosis |
|
Encephalocele, Syndactyly, Cryptorchidism, Preaxial polydactyly, Preaxial foot polydactyly, Patel... |
OMIM:603671 |
Isolated Hemihyperplasia |
|
Cryptorchidism, Myelomeningocele |
ORPHA:2128 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... |
ORPHA:811 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14 |
|
Abnormal lower motor neuron morphology, Hand muscle atrophy, Hand muscle weakness |
OMIM:607641 |
Hypoglossia-Hypodactyly Syndrome |
|
Finger syndactyly, Brachydactyly, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Adactyly, Sp... |
ORPHA:989 |
Rhizomelic Syndrome, Urbach Type |
|
Brachydactyly, Rhizomelia, Short neck, Abnormality of the humerus, Preaxial hand polydactyly, Abn... |
ORPHA:3098 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Ventricular septal defect, Postaxial polydactyly, Preaxial polydactyly, Femoral bowin... |
OMIM:615503 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi... |
OMIM:617052 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Short humerus, Dextrocardia, Proximal placement of thumb, Absent radius, Esophageal atresia, Hydr... |
OMIM:314390 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Tapered finger, Short 3rd toe, Short thumb, Muscular ventricular septal defect, Split hand, Intri... |
OMIM:618569 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... |
OMIM:612576 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Preaxial foot polydactyly, Polysyndactyly of hallux, Ventricular septal defect |
OMIM:235750 |
Trisomy 4P |
|
Camptodactyly of finger, Short neck, Preaxial hand polydactyly, Cryptorchidism, Radial club hand |
ORPHA:1738 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... |
ORPHA:124 |
Immunodeficiency 96 |
|
Increased proportion of gamma-delta T cells, Increased mean corpuscular volume |
OMIM:619774 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ... |
OMIM:613091 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Tarsal synostosis, Abnormality of t... |
ORPHA:1307 |
Abruzzo-Erickson Syndrome |
|
Toe syndactyly, Cryptorchidism, Short toe, Cleft palate, Ulnar deviation of finger, Coloboma, Rad... |
ORPHA:921 |
Thalidomide Embryopathy |
|
Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra... |
ORPHA:3312 |
Bardet-Biedl Syndrome 22 |
|
Postaxial foot polydactyly, Polydactyly |
OMIM:617119 |
Joubert Syndrome 17 |
|
Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly |
OMIM:614615 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Short neck, Femoral bowing, Foot oligodactyly, High palate, Aplasia/Hypoplasia of the tarsal bone... |
OMIM:276820 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Redundant neck skin, Single transverse palmar crease, Short neck, 2-3 toe syndactyly, Cutaneous s... |
OMIM:236500 |
Caudal Duplication |
|
Omphalocele, Spina bifida, Cryptorchidism, Myelomeningocele, Spinal cord lesion, Intestinal dupli... |
ORPHA:1756 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... |
OMIM:119100 |
Meckel Syndrome, Type 10 |
|
Occipital encephalocele, Ulnar deviation of the hand, Postaxial polydactyly, Postaxial hand polyd... |
OMIM:614175 |
Bardet-Biedl Syndrome 19 |
|
Ventricular septal defect, Mesoaxial hand polydactyly, Partial atrioventricular canal defect, Pos... |
OMIM:615996 |
Orofaciodigital Syndrome Type 6 |
|
Syndactyly, Mesoaxial polydactyly, Bilateral cryptorchidism, Central Y-shaped metacarpal, Preaxia... |
ORPHA:2754 |
Neural Tube Defects, Susceptibility To |
|
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly |
OMIM:182940 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Omphalocele, Bilateral cleft palate, Short femur, Ventricular septal defect, Anterior encephaloce... |
OMIM:601357 |
Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612562 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Hallux valgus, Brachydactyly, Toe syndactyly, Scapular winging, Camptodactyly of finger, Spina bi... |
ORPHA:1327 |
Heart-Hand Syndrome, Slovenian Type |
|
Syndactyly, Dilated cardiomyopathy, Aplasia of the middle phalanx of the hand, Clinodactyly, Brac... |
OMIM:610140 |
Spinal Muscular Atrophy, Segmental |
|
Hand muscle atrophy, Abnormal anterior horn cell morphology |
OMIM:183020 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short metatarsal, Cone-shaped... |
OMIM:617102 |
Microphthalmia, Syndromic 8 |
|
Cryptorchidism, Split foot, Cleft palate |
OMIM:601349 |
Orofaciodigital Syndrome Xvii |
|
Short middle phalanx of the 2nd finger, Partial duplication of thumb phalanx, Central Y-shaped me... |
OMIM:617926 |
Autosomal Recessive Axonal Neuropathy With Neuromyotonia |
|
Short third metatarsal, Hand muscle atrophy, Camptodactyly of finger, Split hand, Weakness of lon... |
ORPHA:324442 |
Branchiogenic Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Osteolytic defects of the distal phalanges of the hand, Short ... |
ORPHA:50815 |
15Q24 Microdeletion Syndrome |
|
Proximal placement of thumb, Abnormal thumb morphology, Cryptorchidism, Myelomeningocele, Abnorma... |
ORPHA:94065 |
Brachydactyly-Preaxial Hallux Varus Syndrome |
|
Short metacarpal, Preaxial hand polydactyly, Radial club hand, Short metatarsal, Broad thumb, Bra... |
ORPHA:1278 |
Craniorachischisis |
|
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism, Bifid sternum |
ORPHA:63260 |
Laurin-Sandrow Syndrome |
|
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, A... |
OMIM:135750 |
Diaphanospondylodysostosis |
|
Narrow pelvis bone, Myelomeningocele, Short neck |
ORPHA:66637 |
Bardet-Biedl Syndrome 16 |
|
Polydactyly |
OMIM:615993 |
Neurooculocardiogenitourinary Syndrome |
|
Redundant neck skin, Ventricular septal defect, Tricuspid regurgitation, Cardiomegaly, Bilateral ... |
OMIM:618652 |
Branchiootic Syndrome 3 |
|
Branchial cyst |
OMIM:608389 |
Wolf-Hirschhorn Syndrome |
|
Hypoplastic pubic ramus, Tethered cord, Abnormal heart valve morphology, Arachnodactyly, Short ha... |
ORPHA:280 |
Ritscher-Schinzel Syndrome 1 |
|
Syndactyly, Ventricular septal defect, Hydrocephalus, Double outlet right ventricle, Cleft palate... |
OMIM:220210 |
Carpenter Syndrome 2 |
|
Single transverse palmar crease, Short neck, Bilateral cryptorchidism, Preaxial polydactyly, Coxa... |
OMIM:614976 |
Nephronophthisis 15 |
|
Polydactyly |
OMIM:614845 |
Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom... |
ORPHA:231222 |
Anophthalmia Plus Syndrome |
|
Spina bifida, Cleft palate, Bilateral cleft lip and palate, Deviation of finger, Iris coloboma |
ORPHA:1104 |
Subependymal Nodular Heterotopia |
|
Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele |
ORPHA:101030 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Finger syndactyly, Broad hallux phalanx, Preaxial hand polydactyly, Exencephaly, B... |
ORPHA:2211 |
Primary Lateral Sclerosis, Adult, 1 |
|
Abnormal upper motor neuron morphology, Dysphagia |
OMIM:611637 |
Orofaciodigital Syndrome Xi |
|
Postaxial polydactyly |
OMIM:612913 |
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Short long bone, Polydactyly, Brachydactyly |
OMIM:613819 |
Orofaciodigital Syndrome Viii |
|
Syndactyly, Short tibia, Polydactyly |
OMIM:300484 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Finger syndactyly, Inguinal hernia, Camptodactyly of finger, Short neck, Cryptorchidism, Meningoc... |
ORPHA:2311 |
Vater/Vacterl Association |
|
Occipital encephalocele, Syndactyly, Ventricular septal defect, Spina bifida, Absent radius, Shor... |
OMIM:192350 |
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Phocomelia, Split hand, Foot polydactyly, Duodenal atresia |
ORPHA:3004 |
Mucolipidosis Iii Alpha/Beta |
|
Aortic regurgitation, Soft tissue swelling of interphalangeal joints, Irregular carpal bones, Spl... |
OMIM:252600 |
16Q24.3 Microdeletion Syndrome |
|
Increased mean corpuscular volume, Thrombocytopenia |
ORPHA:261250 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Single transverse palmar crease, Micromelia, Short neck, Delayed epiphyseal ossification, Preaxia... |
OMIM:210710 |
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Preaxial polydactyly |
ORPHA:2921 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Inguinal hernia, Tethered cord, Myelomeningocele, Pulmonic stenosis, Facial telangiectasia, Contr... |
OMIM:620141 |
Fixed Subaortic Stenosis |
|
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... |
ORPHA:3092 |
Wolf-Hirschhorn Syndrome |
|
Single transverse palmar crease, Gastroesophageal reflux, Atrial septal defect, Iris coloboma, Te... |
OMIM:194190 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Syndactyly, Hydrocephalus, Ventricular septal defect, Polydactyly |
OMIM:602501 |
Cantú Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Abnormal heart valve morphology, Short hallux, Cardiomeg... |
ORPHA:1517 |
Sirenomelia |
|
Spina bifida, Tracheoesophageal fistula, Sirenomelia, Aplasia/Hypoplasia of the radius, Anal atresia |
ORPHA:3169 |
Joubert Syndrome 14 |
|
Encephalocele, Ventricular septal defect, Postaxial polydactyly, Hydrocephalus, Meningocele, Clef... |
OMIM:614424 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4 |
|
Abnormal lower motor neuron morphology, Joint contracture of the hand, Talipes equinovarus |
OMIM:611067 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Congestive heart failure, Hydrocephalus, Cardiomegaly |
OMIM:300886 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Neonatal deat... |
OMIM:614096 |
Mosaic Trisomy 9 |
|
Micromelia, Short neck, Finger clinodactyly, High palate, Endocardial fibroelastosis, Atrial sept... |
ORPHA:99776 |
Chromosome 17P13.1 Deletion Syndrome |
|
Hallux valgus, Arachnodactyly, Broad hallux, Proximal placement of thumb, Spina bifida, Tapered f... |
OMIM:613776 |
Isolated Right Ventricular Hypoplasia |
|
Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa... |
ORPHA:439 |
Meckel Syndrome, Type 5 |
|
Occipital encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Anencephaly, Posta... |
OMIM:611561 |
Orofaciodigital Syndrome Vi |
|
Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxial polydactyly, Pr... |
OMIM:277170 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Syndactyly, Palmoplantar keratoderma, Cardiomegaly |
OMIM:613576 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Iliac crest serration, Micromelia, Cardiomegaly, Wide distal femoral metaphysis, Short neck, Dela... |
OMIM:613320 |
Iniencephaly |
|
Encephalocele, Omphalocele, Rhizomelia, Rocker bottom foot, Spina bifida, Hydrocephalus, Myelomen... |
ORPHA:63259 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Syndactyly, Coloboma, Clinodactyly, Iris coloboma, Brachydactyly |
OMIM:610023 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Branchial fistula, Bowing of the long bones, Toe syndactyly, Ventricular septal defect, Arachnoda... |
ORPHA:261330 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Paresis of extensor muscles of the big toe, Abnormality of the hand, Hand muscle weakness, Hydroc... |
ORPHA:99947 |
Trisomy 18 |
|
Holoprosencephaly, Atrial septal defect, Iris coloboma, Bilateral single transverse palmar crease... |
ORPHA:3380 |
Coronary Arterial Fistula |
|
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Right ventricular dilatation, Abnor... |
ORPHA:2041 |
Branchiootic Syndrome 1 |
|
Branchial fistula |
OMIM:602588 |
Heterotaxy, Visceral, 1, X-Linked |
|
Congenital hip dislocation, Cardiomegaly, Aqueductal stenosis, Dextrotransposition of the great a... |
OMIM:306955 |
Fryns Microphthalmia Syndrome |
|
Neural tube defect |
OMIM:600776 |
Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Postaxial polydactyly, Hand polydactyly, Foot polydactyly, Short finger, Short ti... |
OMIM:258860 |
Curry-Jones Syndrome |
|
Duplication of thumb phalanx, Preaxial hand polydactyly, Lipomyelomeningocele, 2-3 finger syndact... |
OMIM:601707 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Natal tooth, Postaxial polydactyly, Short neck, Complete atrioventricular canal defect, Preaxial ... |
OMIM:617925 |
Juvenile Primary Lateral Sclerosis |
|
Abnormal upper motor neuron morphology, Dysphagia |
ORPHA:247604 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... |
OMIM:618052 |
Bardet-Biedl Syndrome 17 |
|
Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Postaxial hand polyda... |
OMIM:615994 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Tachycardia, Ventricular septal defect, Ab... |
ORPHA:860 |
Al-Gazali-Bakalinova Syndrome |
|
Epiphyseal dysplasia, Tapered finger, Flattened epiphysis, Genu valgum, Polydactyly, Clinodactyly |
OMIM:607131 |
Blepharocheilodontic Syndrome 1 |
|
Neural tube defect, Clinodactyly, Cutaneous syndactyly |
OMIM:119580 |
Brachyolmia Type 3 |
|
Spinal cord compression, Proximal femoral metaphyseal irregularity, Short femoral neck, Radial de... |
OMIM:113500 |
Mohr Syndrome |
|
Syndactyly, Preaxial hand polydactyly, Hydrocephalus, Postaxial hand polydactyly, Flared metaphys... |
OMIM:252100 |
Thrombocytopenia-Absent Radius Syndrome |
|
Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Atrial septal defec... |
OMIM:274000 |
Ciliary Dyskinesia, Primary, 14 |
|
Situs inversus totalis, Heterotaxy, Abnormal axonemal organization of respiratory motile cilia, A... |
OMIM:613807 |
Mulibrey Nanism |
|
Hepatomegaly, Single transverse palmar crease, Cardiomegaly, Thickened cortex of long bones, Cong... |
OMIM:253250 |
Joubert Syndrome 7 |
|
Encephalocele, Postaxial hand polydactyly, Postaxial polydactyly, Genu valgum |
OMIM:611560 |
Vitamin K Antagonist Embryofetopathy |
|
Brachydactyly, Short neck, Myelomeningocele, Hydrocephalus, Epiphyseal stippling, Short distal ph... |
ORPHA:1914 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Cardiomegaly, Short neck, Shoulder dislocation, Atrial septal defect, Pate... |
OMIM:245600 |
Camptobrachydactyly |
|
Syndactyly, Short toe, Hand polydactyly, Congenital finger flexion contractures, Brachydactyly |
OMIM:114150 |
Timothy Syndrome |
|
Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Ventric... |
OMIM:601005 |
Lambotte Syndrome |
|
Preaxial foot polydactyly, Ventricular septal defect, Semilobar holoprosencephaly |
OMIM:245552 |
Hypomelia With Mullerian Duct Anomalies |
|
Postaxial hand polydactyly, Split hand |
OMIM:146160 |
Lateral Meningocele Syndrome |
|
Inguinal hernia, Ventricular septal defect, Short neck, Cryptorchidism, High, narrow palate, Meni... |
ORPHA:2789 |
Joubert Syndrome 20 |
|
4-5 toe syndactyly, Postaxial polydactyly |
OMIM:614970 |
Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Abnormal motor neuron morphology |
DECIPHER:29 |
Phaver Syndrome |
|
Broad hallux phalanx, Ventricular septal defect, Camptodactyly of finger, Short thumb, Myelomenin... |
ORPHA:2876 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Inguinal hernia, Bicuspid aortic valve, Ventricular septal defect, Single transverse palmar creas... |
ORPHA:329224 |
Congenital Myopathy 8 |
|
Congestive heart failure, High palate, Cardiomegaly |
OMIM:618654 |
Acrorenal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Split hand, Hypoplasia of the radiu... |
OMIM:200980 |
Alg3-Cdg |
|
Abnormality of the gastrointestinal tract, Metaphyseal chondrodysplasia, Abnormal limb bone morph... |
ORPHA:79321 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Cryptorchidism, Increased nuchal translucency, ... |
ORPHA:453499 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Clinodactyly of the 5th finger, Polydactyly, Upper limb asymmetry |
ORPHA:231140 |
Fountain Syndrome |
|
Metaphyseal dysplasia, Brachydactyly, Coarse metaphyseal trabecularization, Spina bifida, Large h... |
ORPHA:3219 |
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... |
OMIM:113310 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly |
OMIM:228250 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Short femur, Ventricular septal defect, Fractured radius, Decreased fibular diameter, Cardiomegal... |
OMIM:616897 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
Polysyndactyly With Cardiac Malformation |
|
Syndactyly, Ventricular septal defect, Preaxial hand polydactyly, Duplication of phalanx of hallu... |
OMIM:263630 |
Chiari Malformation Type Ii |
|
Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida |
OMIM:207950 |
Pelger-Huet Anomaly |
|
Ventricular septal defect, Upper limb undergrowth, Polydactyly, Short 3rd metacarpal, Umbilical h... |
OMIM:169400 |
Adams-Oliver Syndrome 5 |
|
Syndactyly, Brachydactyly, Inguinal hernia, Splenomegaly, Right atrial enlargement, Esophageal va... |
OMIM:616028 |
Neu-Laxova Syndrome 2 |
|
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Spina bifida, Short neck, Cleft palate, Hi... |
OMIM:616038 |
Jacobsen Syndrome |
|
Short neck, Long hallux, Iris coloboma, Abnormality of the anus, Broad hallux phalanx, Finger syn... |
ORPHA:2308 |
Enlarged Parietal Foramina |
|
Occipital encephalocele, Myelomeningocele, Broad thumb, Short clavicles |
ORPHA:60015 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Abnormal thumb morphology, Protruding tong... |
ORPHA:324410 |
Suleiman-El-Hattab Syndrome |
|
Inguinal hernia, Ventricular septal defect, Single transverse palmar crease, Cryptorchidism, Poly... |
OMIM:618950 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Short long bone, Postaxial polydactyly, Brachydactyly |
OMIM:615633 |
Eec Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Proximal placement of thumb, ... |
ORPHA:1896 |
Attrv122I Amyloidosis |
|
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Abnormal enteric nervous sys... |
ORPHA:85451 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... |
ORPHA:231214 |
Joubert Syndrome 23 |
|
Polydactyly |
OMIM:616490 |
Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology |
DECIPHER:31 |
Double Outlet Right Ventricle |
|
Tachycardia, Ventricular septal defect, Intestinal malrotation, Submucous cleft hard palate, Doub... |
ORPHA:3426 |
Lethal Congenital Contracture Syndrome 10 |
|
Omphalocele, Torticollis, Overriding aorta, Ventricular septal defect, Stiff neck, Cardiomegaly, ... |
OMIM:617022 |
Joubert Syndrome 10 |
|
Postaxial polydactyly |
OMIM:300804 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... |
OMIM:105650 |
Holoprosencephaly |
|
Encephalocele, Ventricular septal defect, Abnormal pulmonary valve morphology, Short neck, Crypto... |
ORPHA:2162 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Polydactyly, Hypoplastic ischia |
OMIM:616910 |
Brachydactyly-Syndactyly Syndrome |
|
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... |
OMIM:610713 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Gastrointestinal dysmotility, Gastroesophageal reflux, Finge... |
ORPHA:363705 |
Joubert Syndrome 40 |
|
Postaxial polydactyly |
OMIM:619582 |
Keratoderma Hereditarium Mutilans |
|
Abnormal spinal cord morphology, Autoamputation of digits, Honeycomb palmoplantar hyperkeratosis |
ORPHA:494 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Bicuspid aortic valve, Short neck, Coloboma, Short palm, Clinodactyly of the 5th finger, Atrioven... |
ORPHA:508498 |
Acromelic Frontonasal Dysplasia |
|
Encephalocele, Cryptorchidism, Meningocele, Patellar hypoplasia, Talipes equinovarus, Preaxial fo... |
ORPHA:1827 |
Trisomy 1Q |
|
Toe syndactyly, Ventricular septal defect, Arachnodactyly, Camptodactyly of finger, Cryptorchidis... |
ORPHA:261344 |
Cerebrocostomandibular Syndrome |
|
Ventricular septal defect, Spina bifida, Myelomeningocele, Meningocele, Cleft palate, Glossoptosi... |
ORPHA:1393 |
Bardet-Biedl Syndrome 3 |
|
Postaxial polydactyly, Brachydactyly |
OMIM:600151 |
Laurence-Moon Syndrome |
|
Polydactyly, Abnormality of the hand |
OMIM:245800 |
Cone-Rod Dystrophy 16 |
|
Postaxial polydactyly |
OMIM:614500 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Finger syndactyly, Toe syndactyly, Cryptorchidism, Split hand, Cleft palate |
ORPHA:1300 |
Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Short fourth metatarsal, Brachydactyly, Inguinal hernia, Single transverse palmar c... |
OMIM:618143 |
Muscle-Eye-Brain Disease |
|
Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:588 |
Ritscher-Schinzel Syndrome 2 |
|
Prominent fingertip pads, Syndactyly, Ventricular septal defect, Broad hallux, Overlapping toe, C... |
OMIM:300963 |
Lateral Meningocele Syndrome |
|
Inguinal hernia, Tethered cord, Bicuspid aortic valve, Ventricular septal defect, Short neck, Cry... |
OMIM:130720 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Omphalocele, Inguinal hernia, Aganglionic megacolon, Cryptorchidism, Postaxial hand polydactyly, ... |
OMIM:308205 |
Neurocutaneous Melanocytosis |
|
Intracranial hemorrhage, Meningocele, Syringomyelia, Chorioretinal coloboma |
ORPHA:2481 |
Stromme Syndrome |
|
Hydrocephalus, Stillbirth, Preaxial polydactyly |
OMIM:243605 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Hydrocephalus, Cardiomegaly |
ORPHA:858 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Congestive heart failure, Abnormal motor neuron morphology, Abnorm... |
ORPHA:52430 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Transient ischemic attack, Cardiac arrest, First degree at... |
OMIM:115197 |
Joubert Syndrome 39 |
|
Occipital encephalocele, Hypoplastic left heart, Joint contracture of the 5th finger, Postaxial p... |
OMIM:619562 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Occipital encephalocele, Hydrocephalus, Coloboma |
ORPHA:324416 |
Hartsfield Syndrome |
|
Syndactyly, Alobar holoprosencephaly, Cryptorchidism, Cleft palate, Lobar holoprosencephaly, Ectr... |
OMIM:615465 |
Ciliary Dyskinesia, Primary, 40 |
|
Left Isomerism, Situs inversus totalis, Absent outer dynein arms, Patent ductus arteriosus, Azoos... |
OMIM:618300 |
Femoral-Facial Syndrome |
|
Short femur, Cryptorchidism, Coxa vara, Abnormal fibula morphology, Abnormal pelvic girdle bone m... |
ORPHA:1988 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Micromelia, Postaxial ... |
OMIM:614091 |
Orofaciodigital Syndrome Type 4 |
|
Decreased testicular size, Finger syndactyly, Monorchism, Camptodactyly of finger, Micromelia, Pr... |
ORPHA:2753 |
Bardet-Biedl Syndrome 8 |
|
Postaxial polydactyly |
OMIM:615985 |
Lethal Acantholytic Erosive Disorder |
|
Cardiomegaly, 4-5 finger syndactyly, 2-3 finger syndactyly, Cleft palate, Cardiomyopathy, Impaire... |
ORPHA:158687 |
Conotruncal Heart Malformations |
|
Broad hallux, Postaxial polydactyly, Complete atrioventricular canal defect, Double outlet right ... |
OMIM:217095 |
Congenital Sialidosis Type 2 |
|
Hepatomegaly, Inguinal hernia, Abnormal EKG, Protruding tongue, Hydrocephalus, Hepatosplenomegaly... |
ORPHA:93400 |
Orofaciodigital Syndrome Xiv |
|
Occipital encephalocele, Natal tooth, Ventricular septal defect, Broad hallux, Cryptorchidism, Pa... |
OMIM:615948 |
Trisomy 20P |
|
Finger syndactyly, Inguinal hernia, Camptodactyly of finger, Spina bifida, Short neck, Cryptorchi... |
ORPHA:261318 |
9Q21.13 Microdeletion Syndrome |
|
Cryptorchidism, Gastrointestinal dysmotility, Abnormal tongue morphology, Abnormal heart morpholo... |
ORPHA:531151 |
Basal Cell Nevus Syndrome 1 |
|
Down-sloping shoulders, Spina bifida, Palmar pits, Hydrocephalus, Hamartomatous stomach polyps, I... |
OMIM:109400 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Short neck, Cryptorchidism, Coloboma, Macroglossia, Transposition of the great arteries, Talipes ... |
OMIM:616789 |
Cloacal Exstrophy |
|
Omphalocele, Intestinal malrotation, Spina bifida, Myelomeningocele, Abnormal tibia morphology, A... |
ORPHA:93929 |
Laterality Defects, Autosomal Dominant |
|
Situs inversus totalis, Heterotaxy |
OMIM:601086 |
Adams-Oliver Syndrome 6 |
|
Syndactyly, Tricuspid regurgitation, Ventricular septal defect, Portal hypertension, Splenomegaly... |
OMIM:616589 |
20P13 Microdeletion Syndrome |
|
Finger syndactyly, Clinodactyly, Polydactyly, Brachydactyly |
ORPHA:313781 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Short fourth metatarsal, Short neck, Cryptorchidism, Patellar hypoplasia, Abnormal conus terminal... |
ORPHA:464288 |
Septooptic Dysplasia |
|
Polydactyly, Short finger |
OMIM:182230 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Prominent fingertip pads, Bicuspid aortic valve, Arachnodactyly, Postaxial polydactyly, Tapered f... |
OMIM:619721 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decreased mean... |
OMIM:618278 |
Complete Atrioventricular Septal Defect |
|
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... |
ORPHA:1329 |
3P25.3 Microdeletion Syndrome |
|
Ventricular septal defect, Broad hallux, Proximal placement of thumb, Tapered finger, Overlapping... |
ORPHA:435638 |
3Mc Syndrome 3 |
|
Cryptorchidism, Clinodactyly, Preaxial polydactyly, Radioulnar synostosis |
OMIM:248340 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Short neck, Short metatarsal, Femoral bowing, Tibial bowing, Atrial s... |
OMIM:304120 |
D-Bifunctional Protein Deficiency |
|
Hepatomegaly, Splenomegaly, Split hand, Hammertoe, High palate, Talipes equinovarus |
OMIM:261515 |
Neu-Laxova Syndrome 1 |
|
Micromelia, Short neck, Calcaneovalgus deformity, Neonatal death, Patent foramen ovale, Finger sy... |
OMIM:256520 |
Nail-Patella Syndrome |
|
Biceps aplasia, Glenoid fossa hypoplasia, Spina bifida, Triceps aplasia, Patellar aplasia, Hypopl... |
OMIM:161200 |
Branchiootorenal Syndrome 1 |
|
Branchial cyst, Branchial fistula, Congenital hip dislocation |
OMIM:113650 |
Meckel Syndrome 14 |
|
Occipital encephalocele, Syndactyly, Bowing of the long bones, Postaxial polydactyly, Short neck,... |
OMIM:619879 |
Hogue-Janssen Syndrome 2 |
|
Broad hallux, Postaxial polydactyly, Hydrocephalus, Hip dysplasia, Deviation of the 5th finger |
OMIM:616362 |
Distal 22Q11.2 Microduplication Syndrome |
|
Branchial fistula, Toe syndactyly, Ventricular septal defect, Camptodactyly of finger, Tapered fi... |
ORPHA:261337 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Inguinal hernia, Toe syndactyly, Absence of Stensen duct, Cryptorchidism, Split hand, Xerostomia,... |
OMIM:129900 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Anal stenosis, Dextrocardia, Short neck, Situs inversus totalis, Myelomeningocele, Hydrocephalus,... |
OMIM:613686 |
Coach Syndrome 1 |
|
Encephalocele, Occipital encephalocele, Hepatomegaly, Portal hypertension, Splenomegaly, Postaxia... |
OMIM:216360 |
Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Tethered cord, Myelomeningocele, Hydrocephalus, Meningocele, Dermal sinus tract, Bi... |
OMIM:600145 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Broad distal phalanx of finger, Sandal gap, Postaxial polydactyly |
OMIM:615761 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Ventricular septal defect, Bicuspid aortic valve, Postaxial polydactyly, Cryptorchidism, Increase... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Ventricular septal defect, Bicuspid aortic valve, Postaxial polydactyly, Cryptorchidism, Increase... |
ORPHA:352665 |
Heterotaxy, Visceral, 7, Autosomal |
|
Dextrocardia, Mitral atresia, Intestinal malrotation, Situs inversus totalis, Common atrium, Hypo... |
OMIM:616749 |
Eisenmenger Syndrome |
|
Elevated circulating C-reactive protein concentration, Hypochromic microcytic anemia, Iron defici... |
ORPHA:97214 |
Familial Atrial Myxoma |
|
Tricuspid regurgitation, Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Congestive heart fa... |
ORPHA:615 |
Joubert Syndrome 27 |
|
Polydactyly |
OMIM:617120 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septal defect, Hyp... |
OMIM:620135 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Split hand, Clubbing, Cleft ... |
OMIM:600460 |
Vacterl/Vater Association |
|
Finger syndactyly, Occipital encephalocele, Cryptorchidism, Preaxial hand polydactyly, Anencephal... |
ORPHA:887 |
Hypoglossia-Hypodactylia |
|
Microglossia, Adactyly, Split hand, Aglossia |
OMIM:103300 |
Attrv30M Amyloidosis |
|
Cardiomyopathy, Arrhythmia, Atrioventricular block, Cardiomegaly |
ORPHA:85447 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Colitis, Cardiomegaly |
ORPHA:88643 |
Multiple Osteochondromas |
|
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... |
ORPHA:321 |
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Finger syndactyly, Toe syndactyly, Elbow dislocation, Patent ductus arteriosus, Aplasia/Hypoplasi... |
ORPHA:1112 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Clinodactyly of the 5th finger, Glossoptosis, Meningocele, Chorioretinal coloboma |
ORPHA:2031 |
Holt-Oram Syndrome |
|
Secundum atrial septal defect, Aplasia of the pectoralis major muscle, Abnormal carpal morphology... |
OMIM:142900 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Single transverse palmar crease, Branchial anomaly, Short palm, Prominent fingertip pads, Brachyd... |
ORPHA:466950 |
Branchiootic Syndrome |
|
Branchial fistula |
ORPHA:52429 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Congestive heart failure, Telangiectasia, Azoospermia, ... |
OMIM:235200 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Redundant neck skin, Single transverse palmar crease... |
ORPHA:3472 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Preaxial polydactyly |
ORPHA:163681 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Congenital hip dislocation, Single transverse palmar crease, Micromelia, Short ne... |
ORPHA:508488 |
Primary Lateral Sclerosis, Juvenile |
|
Abnormal upper motor neuron morphology, Pseudobulbar paralysis, Dysphagia |
OMIM:606353 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Cardiomegaly, Joint contracture of the 5th finger, Atrial septal defect, Hepatomegaly, Patent duc... |
OMIM:602782 |
Retinitis Pigmentosa 89 |
|
Esophageal varix, Bicuspid aortic valve, Postaxial polydactyly, Hepatosplenomegaly |
OMIM:618955 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Anal stenosis, Toe syndactyly, Absence of Stensen duct, Cryptorchidism, Split hand, Xerostomia, C... |
OMIM:604292 |
Curry-Jones Syndrome |
|
Finger syndactyly, Toe syndactyly, Abnormality of thumb phalanx, Preaxial hand polydactyly, Foot ... |
ORPHA:1553 |
Neuraminidase Deficiency |
|
Hepatomegaly, Inguinal hernia, Cardiomegaly, Splenomegaly, Epiphyseal stippling, Cardiomyopathy |
OMIM:256550 |
Fanconi Anemia |
|
Abnormal femur morphology, High palate, Triphalangeal thumb, Atrial septal defect, Clinodactyly o... |
ORPHA:84 |
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Stillbirth, Bilate... |
OMIM:119800 |
Phakomatosis Pigmentokeratotica |
|
Spina bifida, Raynaud phenomenon, Cryptorchidism, Coloboma, Hemiatrophy, Arrhythmia |
ORPHA:2874 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Toe syndactyly, Ventricular septal defect, Dextrocardia, Intestinal malrotation, Bilateral single... |
OMIM:619657 |
Charcot-Marie-Tooth Disease Type 1E |
|
Hand muscle atrophy, Hand muscle weakness, Split hand, Hammertoe, Hyporeflexia of upper limbs, Jo... |
ORPHA:90658 |
Cirrhotic Cardiomyopathy |
|
Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Left atrial enlargement, C... |
ORPHA:57777 |
Isolated Posterior Meningocele |
|
Hydrocephalus, Lipomyelomeningocele, Meningocele, Limitation of neck motion, Neural tube defect, ... |
ORPHA:268810 |
Tarp Syndrome |
|
Meckel diverticulum, Rocker bottom foot, Postaxial polydactyly, Single transverse palmar crease, ... |
OMIM:311900 |
Bor Syndrome |
|
Branchial cyst |
ORPHA:107 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Hip contracture, Abnormal anterior horn cell morphology, Interphalangeal joint contracture of fin... |
ORPHA:1145 |
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome |
|
Meningocele, Hip dislocation |
ORPHA:2003 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... |
OMIM:601214 |
Apert Syndrome |
|
Delayed eruption of teeth, Syndactyly, Finger syndactyly, Overriding aorta, Ventricular septal de... |
OMIM:101200 |
Adult Syndrome |
|
Split foot, Toe syndactyly, Split hand |
OMIM:103285 |
Joubert Syndrome 22 |
|
Postaxial foot polydactyly, Coloboma, Postaxial hand polydactyly, 2-3 toe syndactyly |
OMIM:615665 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Syndactyly, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplasia of the radius, Brachy... |
OMIM:617895 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Abnormal metacarpophalangeal joint morphology, Cholangiocarcinoma, Portal hypertens... |
ORPHA:465508 |
Retinitis Pigmentosa 51 |
|
Polydactyly |
OMIM:613464 |
Rhombencephalosynapsis |
|
Finger syndactyly, Aganglionic megacolon, Esophageal atresia, Hydrocephalus, Tracheoesophageal fi... |
ORPHA:59315 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Aortic regurgitation, Inguinal hernia, Arachnodactyly, Bicuspid aortic valve, Transient ischemic ... |
ORPHA:91387 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal lower motor neuron morphology, Abnormal mitochondrial morphology, Dysphagia, Abnormal up... |
ORPHA:275872 |
Acro-Renal-Ocular Syndrome |
|
Coloboma, Chorioretinal coloboma, Triphalangeal thumb, Iris coloboma, Hypoplasia of the ulna, Fin... |
ORPHA:959 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Cardiomegaly, Congestive heart failure, Cardiomyopathy, Mitral regurgitation, Endoc... |
OMIM:212140 |
Acrocallosal Syndrome |
|
Coloboma, High palate, Clinodactyly of the 5th finger, Bifid uvula, Finger syndactyly, Tapered fi... |
OMIM:200990 |
Refsum Disease, Classic |
|
Short fourth metatarsal, Cardiomegaly, Congestive heart failure, Cardiomyopathy, Arrhythmia |
OMIM:266500 |
Constricting Bands, Congenital |
|
Encephalocele, Syndactyly, Omphalocele, Cleft palate, Hand polydactyly, Talipes equinovarus, Gast... |
OMIM:217100 |
Pagod Syndrome |
|
Encephalocele, Omphalocele, Spina bifida, Sudden cardiac death, Situs inversus totalis, Meningoce... |
ORPHA:991 |
Meckel Syndrome, Type 1 |
|
Occipital encephalocele, Short neck, Lobulated tongue, Iris coloboma, Syndactyly, Cryptorchidism,... |
OMIM:249000 |
Bardet-Biedl Syndrome 6 |
|
Syndactyly, Postaxial polydactyly |
OMIM:605231 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Abnormal spinal cord morphology |
ORPHA:139578 |
Castleman Disease |
|
Decreased mean corpuscular volume, Thrombocytopenia, Elevated circulating C-reactive protein conc... |
ORPHA:160 |
Trisomy 8Q |
|
Camptodactyly of finger, Short neck, Cryptorchidism, Myelomeningocele, Cleft palate, Deep palmar ... |
ORPHA:1752 |
Vacterl With Hydrocephalus |
|
Inguinal hernia, Spina bifida, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Hypoplasia of ... |
ORPHA:3412 |
Diamond-Blackfan Anemia 21 |
|
Hallux valgus, Sandal gap, Tapered finger, Secundum atrial septal defect, Preaxial hand polydacty... |
OMIM:620072 |
Spastic Paralysis, Infantile-Onset Ascending |
|
Abnormal lower motor neuron morphology, Dysphagia |
OMIM:607225 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Congestive heart failure, Hydrocephalu... |
OMIM:261740 |
Oculodentodigital Dysplasia |
|
Finger syndactyly, Toe syndactyly, Ventricular septal defect, Camptodactyly of finger, Short hall... |
ORPHA:2710 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Abnormal acetabulum morphology, Redundant neck skin, Postaxial polydacty... |
ORPHA:397715 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly |
OMIM:619064 |
Campomelic Dysplasia |
|
Anterior tibial bowing, Delayed epiphyseal ossification, Patellar hypoplasia, Femoral bowing, Tib... |
OMIM:114290 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Long toe, Hepatomegaly, Tapered toe, Cardiomegaly, Tapered finger, Long fingers, Antenatal intrac... |
OMIM:608836 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Small hypothenar eminence, Arachnodactyly, Cardiomegaly, Thenar muscle atrophy, Thin metatarsal c... |
ORPHA:2463 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens... |
OMIM:614473 |
Waardenburg Syndrome Type 1 |
|
Cleft palate, Meningocele, Aganglionic megacolon, Spina bifida |
ORPHA:894 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ... |
OMIM:619051 |
Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Preaxial hand polydactyly, Foot polydactyly |
ORPHA:210548 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Dysphagia |
OMIM:616439 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Dysphagia |
OMIM:616437 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Postaxial polydactyly |
ORPHA:544254 |
Diets-Jongmans Syndrome |
|
Inguinal hernia, Ventricular septal defect, Cryptorchidism, Heterotaxy, Hip dysplasia, Umbilical ... |
OMIM:618846 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
Overlapping toe, Postaxial polydactyly, Tapered finger, Cryptorchidism, Atrioventricular canal de... |
OMIM:613792 |
Aprosencephaly Syndrome |
|
Aprosencephaly, Anencephaly, Hand oligodactyly |
OMIM:207770 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Hypertrophic cardiomyopathy, Bradycardia, Cardiomegaly |
OMIM:614702 |
Oligomeganephronia |
|
Branchial cyst, Secundum atrial septal defect |
ORPHA:2260 |
22Q11.2 Deletion Syndrome |
|
Short neck, Anorectal anomaly, Gastroesophageal reflux, Atrial septal defect, Arachnodactyly, Spi... |
ORPHA:567 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Abnormal lower motor neuron morphology, Proximal muscle weakness in upper limbs, Amyotrophic late... |
OMIM:613954 |
Orofaciodigital Syndrome X |
|
Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia |
OMIM:165590 |
Cardioacrofacial Dysplasia 1 |
|
Postaxial polydactyly, Complete atrioventricular canal defect, Genu valgum, Limb undergrowth, Atr... |
OMIM:619142 |
Orofaciodigital Syndrome V |
|
Ventricular septal defect, Unilateral cryptorchidism, Sandal gap, Postaxial polydactyly, Hamartom... |
OMIM:174300 |
Hallermann-Streiff Syndrome |
|
Spina bifida, Abnormality of the hand, Cryptorchidism, Metaphyseal widening, Optic disc coloboma,... |
OMIM:234100 |
Townes-Brocks Syndrome 1 |
|
Short metatarsal, Gastroesophageal reflux, Holoprosencephaly, Chorioretinal coloboma, Triphalange... |
OMIM:107480 |
Senior-Loken Syndrome 9 |
|
Polydactyly, Hypoplasia of the femoral head |
OMIM:616629 |
Rubinstein-Taybi Syndrome 1 |
|
Single transverse palmar crease, Bilateral cryptorchidism, High, narrow palate, Coloboma, Hepatic... |
OMIM:180849 |
Pallister-Hall Syndrome |
|
Anteriorly placed anus, Holoprosencephaly, Neonatal death, Distal shortening of limbs, Syndactyly... |
OMIM:146510 |
Danon Disease |
|
Myocardial necrosis, Wolff-Parkinson-White syndrome, Cardiomegaly, Congestive heart failure, Dila... |
OMIM:300257 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Atrial septal defect, Hydrocephalus, Ventricular septal defect, Postaxial polydactyly |
OMIM:603387 |
Orofaciodigital Syndrome I |
|
Syndactyly, Hamartoma of tongue, Myelomeningocele, Hydrocephalus, Cleft palate, Abnormal heart mo... |
OMIM:311200 |
Spastic Paraplegia 9A, Autosomal Dominant |
|
Hiatus hernia, Abnormal pelvic girdle bone morphology, Gastroesophageal reflux, Abnormal upper mo... |
OMIM:601162 |
Duane Retraction Syndrome |
|
Aplasia/Hypoplasia of the thumb, Short neck, Absent radius, Preaxial hand polydactyly, Hypoplasia... |
ORPHA:233 |
Braddock Syndrome |
|
Preaxial hand polydactyly, Congenital muscular torticollis, Short neck |
ORPHA:52047 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Aplasia of the distal phalanx of the 2nd finger, 2-5 finger syndactyly, Syndactyly, Finger syndac... |
OMIM:308050 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Abnormal jug... |
ORPHA:1677 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Omphalocele, Inguinal hernia, Abnormal pelvis bone morphology, Aganglionic megacolon, Camptodacty... |
ORPHA:2273 |
Ogden Syndrome |
|
Congenital hip dislocation, Bicuspid aortic valve, Redundant neck skin, Cardiomegaly, Secundum at... |
OMIM:300855 |
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:105500 |
Amish Lethal Microcephaly |
|
Hepatomegaly, Cleft soft palate, Spina bifida |
ORPHA:99742 |
Cranioectodermal Dysplasia |
|
Finger syndactyly, Brachydactyly, Rhizomelia, Abnormal diaphysis morphology, Clinodactyly of the ... |
ORPHA:1515 |
Au-Kline Syndrome |
|
Thickened nuchal skin fold, Overlapping toe, Postaxial polydactyly, Coxa valga, Cryptorchidism, L... |
OMIM:616580 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Preaxial hand polydactyly, Aplasia/Hypoplasia of the thumb, Atrioventricular canal defect, Tripha... |
ORPHA:2549 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Abnormal upper motor neuron morphology, Abnormality of the hand |
OMIM:221770 |
Bardet-Biedl Syndrome 12 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly |
OMIM:615989 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Ventricular septal defect, Postaxial polydactyly, Cryptorchidism, 2-3 toe syndactyly, Abnormal he... |
ORPHA:404440 |
Adult Syndrome |
|
Finger syndactyly, Toe syndactyly, Split foot |
ORPHA:978 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Dilated cardiomyopathy, Ventricular tachycardia, Cardiomegaly |
OMIM:600649 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Necrotizing enterocolitis, Sudden cardiac death, Cardiomegaly, Reduced left ventric... |
OMIM:201475 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... |
ORPHA:75565 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Ventricular septal defect, Postaxial polydactyly, Hydrocephalus, Patent ductus arteriosus, Hip dy... |
OMIM:614576 |
Orofaciodigital Syndrome Type 2 |
|
Natal tooth, Finger syndactyly, Broad hallux, Short tibia, Adactyly, Broad first metatarsal, Post... |
ORPHA:2751 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Mosaic Trisomy 16 |
|
Abnormality of the gastrointestinal tract, Syndactyly, Ventricular septal defect, Single transver... |
ORPHA:1708 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Bowin... |
ORPHA:85167 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Gastroesophageal reflux, Cardiomegaly |
ORPHA:3137 |
Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Inguinal hernia, Cardiomegaly, Abnormal myocardium morphology, Splenomegaly, Hydroc... |
ORPHA:581 |
Hydrolethalus Syndrome 1 |
|
Ventricular septal defect, Complete atrioventricular canal defect, Preaxial hand polydactyly, Pos... |
OMIM:236680 |
Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Gastrointestinal dysmotility, Dysphagia, Cardiomegaly |
ORPHA:391428 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Short metacarpal, Limited elbow movement, Preaxial hand polydactyly, Enlarged metaphyses, Abnorma... |
ORPHA:508533 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Hypoplasia of the ulna, Broad hallux, Delayed eruption of primary teeth, Absent radius, Short thu... |
OMIM:149730 |
Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:602099 |
Lathosterolosis |
|
Hepatomegaly, Toe syndactyly, Postaxial hand polydactyly, Meningocele, Postaxial foot polydactyly... |
ORPHA:46059 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Arrhythmia, Cardiomegaly |
ORPHA:42 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal lower motor neuron morphology, Abnormal cardiac septum morphology, Tracheoesophageal fis... |
ORPHA:93941 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Proximal muscle weakness in upper limbs, Scapular winging, Abnormal EKG, Limited elbow movement, ... |
ORPHA:268 |
Meckel Syndrome |
|
Encephalocele, Bowing of the long bones, Situs inversus totalis, Cryptorchidism, Hydrocephalus, P... |
ORPHA:564 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Natal tooth, Broad hallux, Single transverse palmar crease, Hydrocele testis, Atr... |
OMIM:620186 |
Treacher-Collins Syndrome |
|
Encephalocele, Branchial fistula, Patent ductus arteriosus, Cryptorchidism |
ORPHA:861 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Torticollis, Tethered cord, Spina bifida, Tapered finger, Patent ductus arteriosus, Gastroesophag... |
OMIM:619480 |
Joubert Syndrome 37 |
|
Cryptorchidism, Broad neck, Decreased testicular size, Postaxial polydactyly |
OMIM:619185 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Thickened nuchal skin fold, Short femur, Tricuspid regurgitation, Cardiomegaly, Talipes equinovar... |
OMIM:620306 |
Cree Mental Retardation Syndrome |
|
Cleft soft palate, Rocker bottom foot, Cryptorchidism, Coloboma, Cutaneous finger syndactyly, Web... |
OMIM:606851 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Diffuse alveolar hemorrhage, Cardiomegaly, Heart murmur, Hepatosplenomegaly |
ORPHA:99931 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Syndactyly, Congenital hip dislocation, Cubitus valgus, Hydrocephalus, Patent ductus arteriosus, ... |
OMIM:104350 |
Spinal Arteriovenous Metameric Syndrome |
|
Abnormal spinal cord morphology, Spinal arteriovenous malformation |
ORPHA:53721 |
Ventriculomegaly With Cystic Kidney Disease |
|
Hydrocephalus, Ventricular septal defect, Postaxial polydactyly |
OMIM:219730 |
Adnp Syndrome |
|
Inguinal hernia, Broad hallux, Sandal gap, Single transverse palmar crease, Oral-pharyngeal dysph... |
ORPHA:404448 |
Primary Lateral Sclerosis |
|
Abnormal lower motor neuron morphology, Atrophy of the spinal cord, Dysphagia, Abnormal upper mot... |
ORPHA:35689 |
Amyotrophic Lateral Sclerosis 21 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Hand muscle weakness, Shou... |
OMIM:606070 |
Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Abnormal lower motor neuron morphology, Hand muscle atrophy, Amyotrophic lateral sclerosis, Retro... |
OMIM:205100 |
Lumbar Syndrome |
|
Spina bifida, Cryptorchidism, Myelomeningocele, Ectopic anus, Bladder exstrophy, Anal atresia |
ORPHA:83628 |
Miller-Dieker Lissencephaly Syndrome |
|
Omphalocele, Inguinal hernia, Single transverse palmar crease, Cryptorchidism, Cleft palate, Abno... |
OMIM:247200 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Ventricular septal def... |
ORPHA:137675 |
Beck-Fahrner Syndrome |
|
High palate, Hip dysplasia, Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
Johnson Neuroectodermal Syndrome |
|
Preaxial hand polydactyly, Tetralogy of Fallot, Hand polydactyly |
ORPHA:2316 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:620066 |
Ivic Syndrome |
|
Aplastic clavicle, Preaxial hand polydactyly, Short thumb, Hypoplasia of the radius, Radioulnar s... |
ORPHA:2307 |
Bardet-Biedl Syndrome 1 |
|
Syndactyly, Aganglionic megacolon, Postaxial polydactyly, High, narrow palate, Postaxial hand pol... |
OMIM:209900 |
Pseudoaminopterin Syndrome |
|
Brachydactyly, Inguinal hernia, Overlapping toe, Single transverse palmar crease, Postaxial polyd... |
ORPHA:221120 |
Fanconi Anemia, Complementation Group D2 |
|
Absent thumb, Absent radius, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Short thumb... |
OMIM:227646 |
Mogs-Cdg |
|
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Hydrocele testis, High palate, Atrial septal defe... |
ORPHA:79330 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ve... |
ORPHA:555874 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Ventricular septal defect, Proximal placement of thumb, Preaxial hand polydactyly, Atrial septal ... |
OMIM:610536 |
Mucopolysaccharidosis, Type Iiib |
|
Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly |
OMIM:252920 |
Okamoto Syndrome |
|
Omphalocele, Exaggerated median tongue furrow, Anal stenosis, Tethered cord, Ventricular septal d... |
ORPHA:2729 |
Witteveen-Kolk Syndrome |
|
Branchial fistula, Toe syndactyly, Overlapping toe, Unilateral cryptorchidism, Proximal placement... |
OMIM:613406 |
Marfan Syndrome |
|
Mitral valve calcification, Inguinal hernia, Arachnodactyly, Protrusio acetabuli, Limited elbow m... |
ORPHA:558 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Atrial septal defect, Preaxial hand polydactyly |
ORPHA:79113 |
Esophageal Atresia |
|
Omphalocele, Barrett esophagus, Ventricular septal defect, Intestinal malrotation, Pyloric stenos... |
ORPHA:1199 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Arrhythmia, Cardiomegaly |
OMIM:255120 |
Familial Aortic Dissection |
|
Aortic regurgitation, Patent ductus arteriosus, Abnormal left ventricular function, Cardiomegaly |
ORPHA:229 |
Bardet-Biedl Syndrome 20 |
|
Postaxial polydactyly, Bilateral cryptorchidism, Postaxial hand polydactyly, 2-3 toe syndactyly, ... |
OMIM:619471 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Narrow greater sciatic notch, Short palm, Atrial septal defect, Hepatoblastoma, Hepatomegaly, Exa... |
OMIM:312870 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Ventricular septal defect, Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionat... |
OMIM:263520 |
Cranioectodermal Dysplasia 2 |
|
Hepatomegaly, Syndactyly, Inguinal hernia, Rhizomelia, Short neck, Splenomegaly, Postaxial hand p... |
OMIM:613610 |
Williams Syndrome |
|
Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Rectal prolapse, Abnormality of the n... |
ORPHA:904 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Tachycardia, Ventricular septal defect, Sudden cardiac death, Cardiomegaly, Dilated... |
OMIM:614921 |
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Preaxial hand polydactyly, Talipes equinovarus |
OMIM:601389 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Abnormal spinal cord morphology, Flexion contracture of finger, Camptodactyly |
ORPHA:88628 |
Tarp Syndrome |
|
Finger syndactyly, Rocker bottom foot, Postaxial polydactyly, Single transverse palmar crease, Cr... |
ORPHA:2886 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Cardiomegaly, Left ventricular outflow tract obstruction, Shortened PR interval, He... |
ORPHA:308552 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Cardiomegaly, Heart block, High, narrow palate, Hydrocephalus, Cardiomyopathy, Abno... |
ORPHA:228308 |
Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Short neck, Palmar pits, Hydrocephalus, Cardiac fibroma, Polydactyly, ... |
ORPHA:77301 |
Polyglucosan Body Neuropathy, Adult Form |
|
Abnormal upper motor neuron morphology, Orthostatic hypotension |
OMIM:263570 |
Loeys-Dietz Syndrome 2 |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Atrial septal defect, Bifid uvula, Syndactyly, A... |
OMIM:610168 |
Branchiooculofacial Syndrome |
|
Single transverse palmar crease, Proximal placement of thumb, Short neck, Cryptorchidism, Short t... |
OMIM:113620 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Aqueductal stenosis, Secundum atrial septal defect, Primum atrial septal defect, Coloboma, Inlet ... |
OMIM:619534 |
Neu-Laxova Syndrome |
|
Spina bifida, Micromelia, Submucous cleft hard palate, Cleft palate, Large hands, Bifid uvula |
ORPHA:2671 |
Oeis Complex |
|
Omphalocele, Tethered cord, Congenital hip dislocation, Intestinal malrotation, Cryptorchidism, M... |
OMIM:258040 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Hydrocephalus, Aortic valve... |
OMIM:231005 |
Femoral-Facial Syndrome |
|
Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Ventricular septa... |
OMIM:134780 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Rhizomelia, Postaxial polydactyly, Epiphyseal stippling, Abnormal pelvic girdle bone morphology, ... |
OMIM:302960 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Pallor of dorsal columns o... |
OMIM:602433 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Prominent fingertip pads, Anomaly of lower limb diaphyses, Bicuspid aortic v... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Prominent fingertip pads, Anomaly of lower limb diaphyses, Bicuspid aortic v... |
ORPHA:363958 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Cardiac arrest, Cardiomegaly, Cardiomyopathy, Left ventricular hypertrophy |
OMIM:617713 |
Charge Syndrome |
|
Abnormal palmar dermatoglyphics, Secundum atrial septal defect, Hand monodactyly, Coloboma, Holop... |
OMIM:214800 |
Arima Syndrome |
|
Hepatomegaly, Postaxial hand polydactyly, Esophageal varix, Postaxial foot polydactyly, Hypertens... |
OMIM:243910 |
Aicardi Syndrome |
|
Spina bifida, Hiatus hernia, Proximal placement of thumb, Optic disc coloboma, Cleft palate, Hepa... |
OMIM:304050 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Heterota... |
ORPHA:99125 |
Cranioectodermal Dysplasia 3 |
|
Rhizomelia, Sandal gap, Postaxial polydactyly, 2-4 toe syndactyly, 2-3 toe syndactyly, Brachydactyly |
OMIM:614099 |
Absence Of The Pulmonary Artery |
|
Abnormal EKG, Atrial flutter, Tachycardia, Atrial fibrillation, Cardiomegaly, Congestive heart fa... |
ORPHA:980 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hallux valgus, Aortic regurgitation, Toe syndactyly, Ventricular septal defect, Arachnodactyly, C... |
ORPHA:464306 |
Bohring-Opitz Syndrome |
|
Ulnar deviation of the wrist, Cardiomegaly, Bilateral wrist flexion contracture, Cleft palate, Co... |
ORPHA:97297 |
Boucher-Neuhauser Syndrome |
|
Abnormal upper motor neuron morphology |
OMIM:215470 |
Meier-Gorlin Syndrome 7 |
|
2-4 finger syndactyly, Ventricular septal defect, Bowing of the legs, Aplasia/Hypoplasia of the p... |
OMIM:617063 |
Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Patent ductus arteriosus, Aortic v... |
ORPHA:1457 |
Cerebrooculonasal Syndrome |
|
Encephalocele, Postaxial polydactyly, Hydrocephalus, Postaxial hand polydactyly, Narrow palate, C... |
OMIM:605627 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Postaxial polydactyly |
OMIM:615824 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Bicuspid aortic valve, Coloboma, High palate, Gastroesophageal reflux, Cervical cord compression,... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Bicuspid aortic valve, Coloboma, High palate, Gastroesophageal reflux, Cervical cord compression,... |
ORPHA:353277 |
Split Cord Malformation |
|
Tethered cord, Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydroc... |
ORPHA:573278 |
Roberts-Sc Phocomelia Syndrome |
|
Short neck, Tetraphocomelia, Coloboma, High palate, Atrial septal defect, Phocomelia, Wrist flexi... |
OMIM:268300 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Hallux valgus, Aortic regurgitation, Inguinal hernia, Ventricular septal defect, Abnormal pulmona... |
ORPHA:268261 |
Helsmoortel-Van Der Aa Syndrome |
|
High, narrow palate, Gastroesophageal reflux, Short 4th toe, Prominent fingertip pads, Clinodacty... |
OMIM:615873 |
Pseudo-Torch Syndrome 3 |
|
Hypertension, Cerebral hemorrhage, Cardiomegaly |
OMIM:618886 |
Lethal Congenital Contracture Syndrome 1 |
|
Paucity of anterior horn motor neurons, Neonatal death |
OMIM:253310 |
Degcags Syndrome |
|
Oral-pharyngeal dysphagia, High palate, Gastroesophageal reflux, Atrial septal defect, Patent for... |
OMIM:619488 |
Neurofibromatosis, Type I |
|
Spina bifida, Aqueductal stenosis, Hydrocephalus, Tibial pseudarthrosis, Genu valgum, Hypertension |
OMIM:162200 |
Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Subarachnoid hemorrhage, Card... |
OMIM:232300 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Hallux valgus, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Submucou... |
OMIM:300967 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
High palate, Polydactyly, Abnormal heart morphology |
ORPHA:314655 |
Senior-Loken Syndrome 8 |
|
Polydactyly |
OMIM:616307 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Bicuspid aortic valve, Coloboma, Gastroesophageal reflux, Cervical cord compression, Atrial septa... |
ORPHA:353281 |
Sandhoff Disease |
|
Hepatomegaly, Orthostatic hypotension, Cardiomegaly, Hepatosplenomegaly, Macroglossia |
OMIM:268800 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Cardiomegaly |
OMIM:105210 |
Schinzel-Giedion Syndrome |
|
Inguinal hernia, Overlapping fingers, Overlapping toe, Aganglionic megacolon, Short neck, Hypopla... |
ORPHA:798 |
Pallister-Hall Syndrome |
|
Holoprosencephaly, Atrial septal defect, Atrioventricular canal defect, Bifid uvula, Mesoaxial po... |
ORPHA:672 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Dysphagia, Neonatal death |
OMIM:608013 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Postaxial polydactyly, Tapered finger, Small hand, Hip dislocation, Short foot, Hip dysplasia |
OMIM:300968 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Patent duc... |
ORPHA:3427 |
Orofaciodigital Syndrome Type 1 |
|
Finger syndactyly, Tarsal synostosis, Preaxial hand polydactyly, Short toe, Postaxial hand polyda... |
ORPHA:2750 |
Choanal Atresia |
|
Polydactyly |
ORPHA:137914 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hallux valgus, Hepatomegaly, Hypoplastic scapulae, Camptodactyly of finger, Cardiomegaly, Splenom... |
OMIM:256040 |
Fucosidosis |
|
Hepatomegaly, Coxa valga, Cardiomegaly, Splenomegaly, Macroglossia |
OMIM:230000 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Flexion contracture of finger, Meningocele, Palmoplantar keratoderma |
ORPHA:1010 |
Truncus Arteriosus |
|
Aortic regurgitation, Tachycardia, Ventricular septal defect, Abnormal heart valve morphology, Ca... |
ORPHA:3384 |
Retinitis Pigmentosa 74 |
|
Polydactyly |
OMIM:616562 |
Semilobar Holoprosencephaly |
|
Hydrocephalus, Hip dislocation, Cleft palate, Abnormal heart morphology, Abnormal heart rate vari... |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Hydrocephalus, Hip dislocation, Cleft palate, Abnormal heart morphology, Abnormal heart rate vari... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Hydrocephalus, Hip dislocation, Cleft palate, Abnormal heart morphology, Abnormal heart rate vari... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Hydrocephalus, Hip dislocation, Cleft palate, Abnormal heart morphology, Abnormal heart rate vari... |
ORPHA:93924 |
Waardenburg Syndrome, Type 1 |
|
Myelomeningocele, Spina bifida |
OMIM:193500 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Cardiomegaly, Esophageal atresia, Patent ductus arteriosus, Partial an... |
ORPHA:95430 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Patent ductus arteriosus, ... |
ORPHA:96191 |
Kinsship Syndrome |
|
Single transverse palmar crease, Coxa valga, Hip dislocation, Fibular hypoplasia, Polydactyly, Me... |
OMIM:619297 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, Part... |
OMIM:164210 |
Japanese Encephalitis |
|
Hyperintensity of MRI T2 signal of the spinal cord, Stiff neck, Paucity of anterior horn motor ne... |
ORPHA:79139 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Congestive heart failure, Cardiomegaly |
OMIM:619259 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Rocker bottom foot, Single transverse palmar crease, Postaxial polydactyly, Long fingers, Palmopl... |
OMIM:617527 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Hepatomegaly, Short humerus, Abnormal mitochondrial shape, Short femur, Patent ductus arteriosus,... |
ORPHA:17 |
Abetalipoproteinemia |
|
Hepatomegaly, Cardiomegaly, Congestive heart failure, Talipes equinovarus, Steatorrhea, Fat malab... |
ORPHA:14 |
Exstrophy-Epispadias Complex |
|
Abnormality of the gastrointestinal tract, Omphalocele, Anal stenosis, Inguinal hernia, Spina bif... |
ORPHA:322 |
Holoprosencephaly 7 |
|
Omphalocele, Bilateral cleft palate, Median cleft lip and palate, Alobar holoprosencephaly, Hydro... |
OMIM:610828 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Transient ischemic attack, Cardiomegaly, Vasculitis, Shortened PR interval, Left ve... |
ORPHA:365 |
Thauvin-Robinet-Faivre Syndrome |
|
Inguinal hernia, Ventricular septal defect, Bowing of the legs, Mitral valve prolapse, Coloboma, ... |
OMIM:617107 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Bilateral cryptorchidism, Preaxial hand polydactyly, Clinodactyly of the 5th finger |
ORPHA:96179 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertension |
OMIM:208000 |
Heterotaxy, Visceral, 12, Autosomal |
|
Ventricular septal defect, Dextrocardia, Left Isomerism, Situs inversus totalis, Patent foramen o... |
OMIM:619702 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly |
OMIM:618838 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Myelopathy, Abnormal spinal cord morphology |
ORPHA:139396 |
Rabson-Mendenhall Syndrome |
|
Enlarged ovaries, Ventricular septal defect, Furrowed tongue, Cardiomyopathy, Macroglossia, Polyd... |
ORPHA:769 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Broad hallux, Postaxial polydactyly, Hydrocephalus, Hip dysplasia, Clinodactyly of the 5th finger |
ORPHA:457284 |
Beckwith-Wiedemann Syndrome |
|
Omphalocele, Hepatomegaly, Inguinal hernia, Cardiomegaly, Large placenta, Cryptorchidism, Splenom... |
ORPHA:116 |
Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Hypoplastic distal radial epiphyses, Cardiomegaly, Coxa valga, Aortic... |
OMIM:182250 |
Townes-Brocks Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Abnormal pulmonary valve morphology, Cryptorchidism, Patent... |
ORPHA:857 |
Fucosidosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:349 |
Khan-Khan-Katsanis Syndrome |
|
Clinodactyly, Tethered cord, Postaxial polydactyly |
OMIM:618460 |
Liver Disease, Severe Congenital |
|
Hepatomegaly, Chronic gastritis, Inguinal hernia, Ventricular septal defect, Left atrial enlargem... |
OMIM:619991 |
Branchio-Oculo-Facial Syndrome |
|
Preaxial hand polydactyly |
ORPHA:1297 |
Culler-Jones Syndrome |
|
Postaxial polydactyly |
OMIM:615849 |
Adrenomyeloneuropathy |
|
Dorsal column degeneration, Atrophy of the spinal cord, Abnormal spinal cord morphology |
ORPHA:139399 |
Acute Disseminated Encephalomyelitis |
|
Abnormal spinal cord morphology, Myelitis |
ORPHA:83597 |
Fanconi Anemia, Complementation Group E |
|
Prolonged G2 phase of cell cycle |
OMIM:600901 |
Fanconi Anemia, Complementation Group A |
|
Prolonged G2 phase of cell cycle |
OMIM:227650 |
Sickle Cell Disease |
|
Splenomegaly, Hepatomegaly, Hypertension, Cardiomegaly |
OMIM:603903 |
Knobloch Syndrome 1 |
|
Occipital encephalocele, Pyloric stenosis, Patent ductus arteriosus, Occipital meningocele, Spina... |
OMIM:267750 |
Legius Syndrome |
|
Paroxysmal atrial tachycardia, Desmoid tumors, Mitral valve prolapse, Diaphyseal dysplasia, Polyd... |
ORPHA:137605 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Hepatomegaly, Postaxial polydactyly, Splenomegaly, Postaxial hand polydactyly, Patent ductus arte... |
OMIM:617088 |
Microphthalmia, Syndromic 6 |
|
Finger syndactyly, Thumb contracture, Toe syndactyly, Single transverse palmar crease, Abnormalit... |
OMIM:607932 |
Microphthalmia, Syndromic 1 |
|
Bicuspid aortic valve, Abnormal palmar dermatoglyphics, High, narrow palate, Rectal prolapse, Hig... |
OMIM:309800 |
Beckwith-Wiedemann Syndrome |
|
Omphalocele, Hepatomegaly, Cardiomegaly, Cryptorchidism, Pancreatic hyperplasia, Cardiomyopathy, ... |
OMIM:130650 |
Fanconi Anemia, Complementation Group C |
|
Prolonged G2 phase of cell cycle |
OMIM:227645 |
Neurocardiofaciodigital Syndrome |
|
Syndactyly, Patent ductus arteriosus, Double inlet left ventricle, Polydactyly, High palate, Atri... |
OMIM:619869 |
Mullegama-Klein-Martinez Syndrome |
|
Cleft palate, Submucous cleft of soft and hard palate, Polydactyly, Hypoplastic left heart, Apica... |
OMIM:301022 |
Faciocardiomelic Syndrome |
|
Slender long bone, Polydactyly, Hypoplastic pelvis |
OMIM:612731 |
Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Transient ischemic attack, Cardiomegaly, Pericardial effusion, Retinal h... |
ORPHA:51608 |
Aicardi-Goutières Syndrome |
|
Raynaud phenomenon, Hepatosplenomegaly, Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:51 |
Superficial Siderosis |
|
Atrophy of the spinal cord, Abnormal spinal cord morphology |
ORPHA:247245 |
Tetrasomy 9P |
|
Hypoplastic scapulae, Hydrocephalus, Abnormal spinal cord morphology, Small hand, Small toe, Tali... |
ORPHA:3310 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Hallux valgus, Congenital hip dislocation, Overlapping toe, Postaxial polydactyly, Tapered finger... |
ORPHA:480880 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Polydactyly, Holoprosencephaly, Hypotension, Abnormal digit morphology, Decreased testicular size... |
ORPHA:95494 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Cardiomegaly |
ORPHA:79280 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Micromelia, Cryptorchidism, Abnormal pelvis bone ossification, Preaxial hand polydactyly, Postaxi... |
ORPHA:93271 |
Amoebiasis Due To Free-Living Amoebae |
|
Abnormal spinal cord morphology |
ORPHA:68 |
Primary Sjögren Syndrome |
|
Abnormal spinal cord morphology |
ORPHA:289390 |
Cranioectodermal Dysplasia 1 |
|
Hepatomegaly, Brachydactyly, Broad toe, Rhizomelia, Bicuspid aortic valve, Broad distal phalanges... |
OMIM:218330 |