| Microcephaly 24, Primary, Autosomal Recessive |
|
Clinodactyly of the 5th finger, Cerebellar vermis hypoplasia, Primary microcephaly |
OMIM:618179 |
| Spinal Muscular Atrophy With Mental Retardation |
|
Syndactyly, Microcephaly |
OMIM:271109 |
| Syndactyly Type 1 |
|
Finger syndactyly, Toe syndactyly, Symphalangism affecting the phalanges of the hand |
ORPHA:93402 |
| Monoamine Oxidase A Deficiency |
|
Cognitive impairment |
ORPHA:3057 |
| Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
2-4 toe syndactyly, Syndactyly, Microcephaly |
OMIM:241000 |
| 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 |
| Syndactyly, Type Iii |
|
Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger |
OMIM:186100 |
| Polydactyly, Postaxial, Type A1 |
|
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... |
OMIM:174200 |
| Myeloproliferative Syndrome, Transient |
|
Leukocytosis, Transient myeloproliferative syndrome |
OMIM:159595 |
| Syndactyly Type 2 |
|
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... |
ORPHA:93403 |
| Hallux Varus And Preaxial Polysyndactyly |
|
Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus |
OMIM:234280 |
| Triphalangeal Thumb With Polysyndactyly |
|
Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br... |
OMIM:190605 |
| Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab... |
ORPHA:3246 |
| Syndactyly, Type Iv |
|
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... |
OMIM:186200 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Syndactyly, Megalencephaly, Postaxial hand polydactyly, Thick corpus callosum, Macrocephaly, Poly... |
OMIM:615938 |
| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Polydactyly, Postaxial, Type A5 |
|
Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis |
OMIM:263450 |
| Intellectual Disability-Spasticity-Ectrodactyly Syndrome |
|
Finger syndactyly, Abnormality of the upper limb, Abnormal hip bone morphology, Clinodactyly of t... |
ORPHA:1891 |
| Syndactyly Type 3 |
|
Finger syndactyly, Short toe, Camptodactyly of finger |
ORPHA:93404 |
| Brachydactyly, Type A2 |
|
Hallux valgus, Triangular shaped middle phalanx of the 2nd finger, Broad hallux, Short hallux, Ul... |
OMIM:112600 |
| Syndactyly Type 5 |
|
Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Metacarpal synostosis, Cl... |
ORPHA:93406 |
| Intellectual Developmental Disorder, Autosomal Recessive 33 |
|
Syndactyly, Short toe |
OMIM:614341 |
| Polydactyly, Preaxial Iv |
|
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... |
OMIM:174700 |
| Brachydactyly Type A7 |
|
Hallux valgus, Short 2nd finger, Sandal gap, Short hallux, Aplasia/Hypoplasia of the middle phala... |
ORPHA:93397 |
| Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Syndactyly, Microcephaly, Aplasia/Hypoplasia of toe, Duplication of metatarsal bones, Cutaneous f... |
OMIM:600384 |
| Wahab Syndrome |
|
Syndactyly, Short metacarpal, Short thumb, Short foot, Short palm, Clinodactyly, Camptodactyly, A... |
OMIM:615170 |
| Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
| Corneal Dystrophy, Congenital Stromal |
|
Band-shaped corneal dystrophy, Corneal erosion, Increased corneal thickness, Corneal dystrophy |
OMIM:610048 |
| Brachydactyly, Type A2, With Microcephaly |
|
Microcephaly, Clinodactyly of the 2nd toe, Absent middle phalanx of 2nd finger, Thumbs hypoplasti... |
OMIM:211369 |
| Thrombocytopenia 2 |
|
Leukocytosis, Thrombocytopenia |
OMIM:188000 |
| Congenital Radioulnar Synostosis |
|
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... |
ORPHA:3269 |
| Acropectoral Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly |
ORPHA:85203 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... |
OMIM:619868 |
| Keratoconus 9 |
|
Keratoconus, Decreased corneal thickness |
OMIM:617928 |
| Split-Hand/Foot Malformation 4 |
|
Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th... |
OMIM:605289 |
| Liebenberg Syndrome |
|
Metaphyseal widening, Elbow flexion contracture, Abnormal carpal morphology, 2-3 finger syndactyl... |
OMIM:186550 |
| Chromosome 2Q35 Duplication Syndrome |
|
Distal symphalangism of hands, 3-4 finger syndactyly, 2-3 toe syndactyly, Cutaneous syndactyly |
OMIM:185900 |
| Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction |
|
Aplasia/Hypoplasia of the thumb, Single transverse palmar crease, Aplasia/Hypoplasia of the middl... |
OMIM:609432 |
| Corneal Endothelial Dystrophy |
|
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... |
OMIM:217700 |
| Ectrodactyly-Polydactyly Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t... |
ORPHA:1892 |
| Camptosynpolydactyly, Complex |
|
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly |
OMIM:607539 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Megalocornea |
|
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... |
OMIM:309300 |
| Brachydactyly-Syndactyly Syndrome |
|
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... |
OMIM:610713 |
| Keratoconus 1 |
|
Keratoconus, Astigmatism |
OMIM:148300 |
| Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
|
Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th... |
ORPHA:157801 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Hip dysplasia |
ORPHA:71289 |
| Split-Hand/Foot Malformation 6 |
|
Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly |
OMIM:225300 |
| Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... |
ORPHA:93405 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Elevated transferri... |
ORPHA:766 |
| Keratoconus 6 |
|
Keratoconus |
OMIM:614623 |
| Keratoconus 5 |
|
Keratoconus |
OMIM:614622 |
| Keratoconus 8 |
|
Keratoconus |
OMIM:614628 |
| Keratoconus 7 |
|
Keratoconus |
OMIM:614629 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia |
OMIM:615863 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Syndactyly, Type V |
|
Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p... |
OMIM:186300 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Splenom... |
OMIM:616860 |
| Erythroderma, Lethal Congenital |
|
Failure to thrive, Hypoalbuminemia |
OMIM:227090 |
| Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased circulating creatine kinase MM isoform, Elevated circulating aspartate aminotransferase... |
OMIM:613752 |
| Chromosome 2Q31.1 Duplication Syndrome |
|
Absent thumb, Short thumb, 3-4 finger cutaneous syndactyly, Talipes equinovarus, Triphalangeal thumb |
OMIM:613681 |
| Microcephaly-Cardiomyopathy |
|
Clinodactyly of the 5th finger, Sandal gap, Microcephaly |
OMIM:251220 |
| Split-Hand/Foot Malformation 2 |
|
Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger |
OMIM:313350 |
| Split-Foot Malformation-Mesoaxial Polydactyly Syndrome |
|
Aplasia/Hypoplasia of the phalanges of the 3rd toe, Mesoaxial foot polydactyly, 1-2 toe syndactyl... |
ORPHA:488232 |
| Chylomicron Retention Disease |
|
Failure to thrive, Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocho... |
OMIM:246700 |
| Split-Hand/Foot Malformation 1 |
|
Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly, Ectrodact... |
OMIM:183600 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Osteopenia, Hepatomegaly, Hypersplenism, Splenomegaly, Thrombocytopenia, Hypocholesterolemia, Anemia |
OMIM:610539 |
| Analbuminemia |
|
Lipodystrophy, Elevated circulating transferrin concentration, Increased LDL cholesterol concentr... |
OMIM:616000 |
| Cornea Plana 2, Autosomal Recessive |
|
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness |
OMIM:217300 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
| Aphalangy-Syndactyly-Microcephaly Syndrome |
|
Toe syndactyly, Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, ... |
ORPHA:1113 |
| Refractory Celiac Disease |
|
Normocytic anemia, Elevated hepatic transaminase, Macrocytic anemia, Microcytic anemia, Hypomagne... |
ORPHA:398063 |
| Brachydactyly Type B |
|
Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas... |
ORPHA:93383 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Broad-based gait, Failure to thrive in infancy, Microcytic anemia, Dilated cardiomy... |
OMIM:618805 |
| Santos Syndrome |
|
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... |
OMIM:613005 |
| Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
| Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
| Diarrhea 13 |
|
Failure to thrive, Hypoalbuminemia |
OMIM:620357 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypercalcemia, Osteomalacia, Hypermagnesemia, Depression, Multiple lipomas, Hypophosphatemia, Pan... |
OMIM:600740 |
| Alg6-Cdg |
|
Failure to thrive, Ataxia, Jaundice, Decreased LDL cholesterol concentration, Abnormality of the ... |
ORPHA:79320 |
| Feingold Syndrome 2 |
|
Short middle phalanx of the 2nd finger, Short thumb, 2-3 toe syndactyly, Secondary microcephaly, ... |
OMIM:614326 |
| Brachydactyly Type B2 |
|
Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ... |
ORPHA:140908 |
| Heart-Hand Syndrome, Slovenian Type |
|
Syndactyly, Clinodactyly, Brachydactyly, Aplasia of the middle phalanx of the hand |
OMIM:610140 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Obesity, Craniosynostosis, Cardiomegaly |
ORPHA:88643 |
| Brachydactyly-Syndactyly, Zhao Type |
|
Hallux valgus, Toe syndactyly, Short fifth metatarsal, Short middle phalanx of the 2nd finger, Sy... |
ORPHA:93409 |
| Hereditary Fructose Intolerance |
|
Hepatomegaly, Reactive hypoglycemia, Jaundice, Hypermagnesemia, Hyperuricemia, Hypophosphatemia, ... |
ORPHA:469 |
| Jawad Syndrome |
|
Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, 4-5 toe synd... |
OMIM:251255 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Ataxia, Elevated circulating creatine kinase concentration, Mental deterioration, Limb ataxia, Ga... |
OMIM:208920 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia... |
OMIM:267700 |
| Syndactyly-Polydactyly-Earlobe Syndrome |
|
Broad toe, Preaxial hand polydactyly, 1-2 toe complete cutaneous syndactyly, Preaxial foot polyda... |
OMIM:186350 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Finger syndactyly, Microcephaly, Abnormality of the elbow, Radioulnar synostosis, Clinodactyly of... |
ORPHA:3268 |
| Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... |
ORPHA:293603 |
| Feingold Syndrome Type 2 |
|
Toe syndactyly, Microcephaly, Short thumb, Short middle phalanx of finger, Brachydactyly |
ORPHA:391646 |
| Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
| 15Q11Q13 Microduplication Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Macrocephaly |
ORPHA:238446 |
| Metacarpal 4-5 Fusion |
|
Clinodactyly of the 5th finger, 2-3 toe cutaneous syndactyly, 4-5 metacarpal synostosis, Short 5t... |
OMIM:309630 |
| Blue Diaper Syndrome |
|
Elevated hepatic transaminase, Hypercalcemia, Increased body weight, Increased proinsulin:insulin... |
ORPHA:94086 |
| Macular Corneal Dystrophy |
|
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... |
ORPHA:98969 |
| Split-Foot Malformation With Mesoaxial Polydactyly |
|
1-2 toe syndactyly, Mesoaxial hand polydactyly, 4-5 toe syndactyly, Split hand, Split foot |
OMIM:616890 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Bruxism, Aggressive behavior |
ORPHA:356996 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Increased bone mineral density, Macular scar, Kyphosis, Hydroxyprolinemia, Osteoporos... |
OMIM:239000 |
| Crossed Polysyndactyly |
|
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyly |
ORPHA:2935 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Steppage gait, Ataxia, Hypoalbuminemia |
ORPHA:94124 |
| Uremic Pruritus |
|
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Depression, Increased blood urea nitrogen |
ORPHA:94059 |
| Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypoalbuminemia, Hepatic fibrosis,... |
ORPHA:247585 |
| Wolcott-Rallison Syndrome |
|
Hyponatremia, Hepatomegaly, Acute hepatic failure, Elevated hepatic transaminase, Neonatal insuli... |
ORPHA:1667 |
| Hepatoportal Sclerosis |
|
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Hy... |
ORPHA:64743 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi... |
OMIM:613673 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Steppage gait, Ataxia, Hypoalbuminemia |
OMIM:607250 |
| Pseudohypoparathyroidism, Type Ic |
|
Short neck, Osteoporosis, Obesity, Hyperphosphatemia, Hypocalcemia, Cognitive impairment, Hypocal... |
OMIM:612462 |
| Autoimmune Hypoparathyroidism |
|
Increased bone mineral density, Confusion, Depression, Irritability, Hyperphosphatemia, Hypocalce... |
ORPHA:36913 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Elevated circulating C-reactive protein concentration, Decreased mean platelet volume, Lymphocyto... |
OMIM:617718 |
| Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Elevated circulating C-reactive protein concentration, Splenomegaly, Increased circ... |
OMIM:616050 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Short neck, Thrombocytopenia, Elevated circulating creatinine concentration, Choles... |
OMIM:608104 |
| Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Leukocytosis, Anemia |
OMIM:619398 |
| Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Microcytic anemia, Hepatosplenomegaly, Hypoa... |
OMIM:619013 |
| Brittle Cornea Syndrome 2 |
|
Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor... |
OMIM:614170 |
| Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
| Pseudohypoparathyroidism, Type Ia |
|
Short neck, Osteoporosis, Obesity, Hyperphosphatemia, Subcutaneous ossification, Cognitive impair... |
OMIM:103580 |
| Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia |
OMIM:615008 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Ataxia, Elevated hepatic transami... |
OMIM:603553 |
| Femur-Fibula-Ulna Complex |
|
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi... |
ORPHA:2019 |
| Immunodeficiency 27A |
|
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Weight loss, Hypoalbuminemia, Thrombocytosis, Ane... |
OMIM:209950 |
| Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Delayed epiphyseal ossification, Cerebral atrophy, Genu valgum, Cutaneous syndactyly, Hypoplasia ... |
ORPHA:166024 |
| Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:618883 |
| Leishmaniasis |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno... |
ORPHA:507 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Elevated circulating aspar... |
OMIM:615558 |
| Abetalipoproteinemia |
|
Osteopenia, Decreased HDL cholesterol concentration, Cardiomegaly, Dysmetria, Gait ataxia, Steppa... |
ORPHA:14 |
| Macrophage Activation Syndrome |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration... |
ORPHA:158061 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Pancytopenia, Diabetes mellitus, Hypomagnesemia, Thrombocytopenia, Leukopenia, Hype... |
OMIM:613845 |
| Immunodeficiency 32B |
|
Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Thrombocytopenia, Impaired oxidative burs... |
OMIM:226990 |
| Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypercalcemia, Hypermagnesemia, Multiple lipomas, Pancreatitis, Chondrocalcinosis |
OMIM:145981 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentratio... |
OMIM:308240 |
| Hypoparathyroidism, Familial Isolated, 1 |
|
Irritability, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:146200 |
| 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 |
| Adams-Oliver Syndrome 3 |
|
Microcephaly, Absent toe, Short metatarsal, 2-3 toe syndactyly, Short palm, Short distal phalanx ... |
OMIM:614814 |
| Leber Congenital Amaurosis 7 |
|
Keratoconus, Cataract |
OMIM:613829 |
| Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Pancytopenia, Hypoglycemia, Hepatic failure, Elevated circulating creatinine concen... |
OMIM:617872 |
| Pseudopseudohypoparathyroidism |
|
Ectopic ossification, Hyperphosphatemia, Hypocalcemia, Obesity |
ORPHA:79445 |
| Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Dilated cardiomyopathy, Osteoporosi... |
ORPHA:231226 |
| Alg1-Cdg |
|
Kyphosis, Abnormal heart morphology, Cardiomyopathy, Hypoalbuminemia, Decreased liver function, S... |
ORPHA:79327 |
| Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
| Eosinophilia, Familial |
|
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
| Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Clinodactyly of the 5th finger, Syndactyly, Macrocephaly, Tapered finger |
OMIM:618725 |
| Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypoalbuminemia, Anemia |
OMIM:603278 |
| Primary Intestinal Lymphangiectasia |
|
Peritoneal effusion, Pericardial effusion, Weight loss, Reduced proportion of CD4+ effector memor... |
ORPHA:90362 |
| Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Pericardial effusion, Myocarditis, Leukocytosis, Thrombocytopenia... |
ORPHA:292 |
| Acropectorovertebral Dysplasia |
|
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... |
OMIM:102510 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... |
OMIM:618528 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Overriding aorta, Small for gestational age, Ventricular septal defect, Ext... |
OMIM:617021 |
| Congenital Lethal Erythroderma |
|
Failure to thrive, Hypoalbuminemia |
ORPHA:1954 |
| Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
| Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Hypocalcemia, Obesity |
OMIM:603233 |
| Gitelman Syndrome |
|
Neoplasm of the pancreas, Maternal diabetes, Pericardial effusion, Insulin resistance, Hypermagne... |
ORPHA:358 |
| Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
| Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple... |
ORPHA:232 |
| Genetic Recurrent Myoglobinuria |
|
Elevated hepatic transaminase, Hyperkalemia, Highly elevated creatine kinase, Fatigable weakness ... |
ORPHA:99845 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating alpha-fetoprotein... |
OMIM:251880 |
| Congenital Analbuminemia |
|
Lipodystrophy, Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo... |
ORPHA:86816 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... |
ORPHA:103910 |
| Aicardi-Goutieres Syndrome 9 |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Hemolytic anemia, Acute pancreatitis, ... |
OMIM:619487 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Small for gestational age, Anisocytosis, Anemia ... |
OMIM:224120 |
| X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Hyperactivity, Cataract, Hirsutism |
ORPHA:85288 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia,... |
OMIM:607765 |
| Pseudohypoaldosteronism, Type Iic |
|
Hyperchloremia, Hyperkalemia, Decreased circulating renin level |
OMIM:614492 |
| Hyperlysinemia, Type I |
|
Hyperactivity, Ectopia lentis |
OMIM:238700 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
| Peroxisome Biogenesis Disorder 3B |
|
Hepatomegaly, Failure to thrive, Ataxia, Retinal dystrophy, Elevated circulating phytanic acid co... |
OMIM:266510 |
| Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Increased bone mineral density, Short neck, Diaphyseal sclerosis, Depression, Irritab... |
ORPHA:94089 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia |
ORPHA:2239 |
| Bardet-Biedl Syndrome 5 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615983 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... |
OMIM:615631 |
| Eosinophilic Gastroenteritis |
|
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Weight loss, H... |
ORPHA:2070 |
| Kenny-Caffey Syndrome, Type 2 |
|
Transient hypophosphatemia, Papilledema, Increased bone mineral density, Small for gestational ag... |
OMIM:127000 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Osteopenia, Hepatomegaly, Pericarditis, Failure to thrive, Ataxia, Elevated hepatic transaminase,... |
OMIM:212065 |
| Brachydactyly, Type B2 |
|
Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the distal phalanges of the... |
OMIM:611377 |
| Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
| Maternal Uniparental Disomy Of Chromosome 4 |
|
Decreased body weight, Ataxia, Elevated circulating creatine kinase concentration, Abetalipoprote... |
ORPHA:96180 |
| Proximal Symphalangism |
|
Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ... |
ORPHA:3250 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Syndactyly, Polydactyly, Abnormal hip bone morphology, Upper limb phocomelia |
ORPHA:294975 |
| Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Hyperkalemia |
OMIM:614491 |
| Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Hyperkalemia |
OMIM:614495 |
| Greig Cephalopolysyndactyly Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Postaxial han... |
ORPHA:380 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
| Leber Congenital Amaurosis 6 |
|
Keratoconus, Cataract |
OMIM:613826 |
| Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Hyperactivity, Astigmatism, Compulsive behaviors, Attention deficit hyperactivity disorder, Motor... |
OMIM:619927 |
| Corneal Dystrophy, Posterior Polymorphous, 3 |
|
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata |
OMIM:609141 |
| Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Brachydactyly, Single transverse palmar crease, Bifid distal phalanx of the thumb, Microcephaly, ... |
ORPHA:370010 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... |
ORPHA:247598 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,... |
OMIM:300908 |
| Preeclampsia |
|
Elevated hepatic transaminase, Small for gestational age, Elevated circulating creatinine concent... |
ORPHA:275555 |
| Brittle Cornea Syndrome 1 |
|
Keratoconus, Keratoglobus, Abnormal cornea morphology, Decreased corneal thickness, Red hair |
OMIM:229200 |
| Craniosynostosis, Philadelphia Type |
|
Finger syndactyly |
ORPHA:1527 |
| Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, ... |
ORPHA:94093 |
| Familial Hypocalciuric Hypercalcemia |
|
Renal hypophosphatemia, Hypercalcemia, Osteomalacia, Hypermagnesemia, Lipoma, Chondrocalcinosis, ... |
ORPHA:405 |
| Ataxia-Oculomotor Apraxia 4 |
|
Ataxia, Elevated circulating alpha-fetoprotein concentration, Obesity, Hypoalbuminemia, Cognitive... |
OMIM:616267 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Decreased serum iron, Ani... |
OMIM:616959 |
| Pseudohypoaldosteronism, Type Iie |
|
Hyperchloremia, Hyperkalemia |
OMIM:614496 |
| Polydactyly, Postaxial, Type A7 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Short fifth metatarsal, 2-3 toe cutaneous... |
OMIM:617642 |
| Edict Syndrome |
|
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract |
OMIM:614303 |
| Primary Membranoproliferative Glomerulonephritis |
|
Drusen, Hypoalbuminemia |
ORPHA:54370 |
| Autosomal Dominant Hypocalcemia |
|
Optic atrophy, Reduced bone mineral density, Fatigable weakness, Depression, Hyperphosphatemia, H... |
ORPHA:428 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Elevated hepatic transaminase, Anisocytosis, Abnormal erythrocyte morphology, Increased serum iro... |
ORPHA:98870 |
| Calciphylaxis |
|
Ectopic ossification, Hyperphosphatemia, Cellulitis |
ORPHA:280062 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Dilated cardiomyopathy, Flexion... |
ORPHA:367 |
| 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 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t... |
OMIM:246570 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Short neck, Inability to walk, Splenomegaly, Flexion contracture, Optic atrophy, Th... |
OMIM:617303 |
| Iron-Refractory Iron Deficiency Anemia |
|
Elevated circulating hepcidin concentration, Poikilocytosis, Hypochromic microcytic anemia, Aniso... |
OMIM:206200 |
| Hypocalciuric Hypercalcemia, Familial, Type I |
|
Pancreatitis, Hypermagnesemia, Hypercalcemia |
OMIM:145980 |
| Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Confusion, Cardiomegaly, Elevat... |
OMIM:212140 |
| Mpi-Cdg |
|
Hepatomegaly, Portal hypertension, Hypoalbuminemia, Hepatic fibrosis, Decreased liver function, H... |
ORPHA:79319 |
| Sitosterolemia 1 |
|
Reticulocytosis, Hyperapobetalipoproteinemia, Splenomegaly, Elevated circulating sitosterol conce... |
OMIM:210250 |
| Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
| Fatco Syndrome |
|
Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma... |
ORPHA:2492 |
| Reni Syndrome |
|
Hypertriglyceridemia, Ataxia, Hypoglycemia, Hypoalbuminemia, Mental deterioration, Lymphopenia |
OMIM:617575 |
| Pearson Syndrome |
|
Abnormality of the liver, Hypocalcemia, Neutropenia, Hepatic steatosis, Hepatomegaly, Reticulocyt... |
ORPHA:699 |
| Split hand/foot malformation 1 (SHFM1) |
|
Toe syndactyly, Split hand, 2-3 toe syndactyly, Cutaneous finger syndactyly, Split foot |
DECIPHER:46 |
| Fanconi-Bickel Syndrome |
|
Osteopenia, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Impaired glucose tolerance, El... |
ORPHA:2088 |
| Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Angioid streaks of the fundus, Hyperostosis, Subperiosteal bone formation, Hyperphosp... |
OMIM:211900 |
| Coenzyme Q10 Deficiency, Primary, 3 |
|
Hypoalbuminemia |
OMIM:614652 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circul... |
ORPHA:540 |
| Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Increased bone mineral density, Confusion, Short neck, Obesity, Reduced bone mineral ... |
ORPHA:79443 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Elevated hepatic transaminase, Short attention span, Elevated circulating creatine kinase concent... |
ORPHA:88618 |
| Camptobrachydactyly |
|
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Camptodactyly of finger, Ulna... |
ORPHA:1319 |
| Immunodeficiency 43 |
|
Lung abscess, B lymphocytopenia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemi... |
OMIM:241600 |
| Neurodevelopmental Disorder With Language Delay And Seizures |
|
Ventricular septal defect, Attention deficit hyperactivity disorder, Hypomagnesemia |
OMIM:619908 |
| Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Dilated cardiomyopathy, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
| Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Failure to thriv... |
OMIM:232700 |
| Wilson Disease |
|
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Aminoaciduria, Hypoalbu... |
OMIM:277900 |
| Insulin-Resistance Syndrome Type B |
|
Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Leukopenia, Hypoalbuminemia... |
ORPHA:2298 |
| Pseudohypoparathyroidism Type 2 |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures |
ORPHA:94090 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, Hypoglycemia, Progressive neurologic deterioration, Chorioretinal ... |
OMIM:618329 |
| Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Increased bone mineral density, Confusion, Short neck, Obesity, Depression, Irritabil... |
ORPHA:79444 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Hepatic failure, Steatorrhea, Hypoalbuminemia, Hepatic fibrosis, Cirrhosis, Hyperin... |
OMIM:602579 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Elevated circulating creatine kinase concent... |
ORPHA:42 |
| Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly |
OMIM:604765 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Small for gestational age, Neonatal epiphyseal stippling, Optic atrophy, Spinal canal stenosis, H... |
OMIM:101800 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hypoglycemia, Small for gestational age, Elevated circulating aspartate aminotransferase concentr... |
OMIM:617093 |
| Linear Verrucous Nevus Syndrome |
|
Reduced bone mineral density, Scoliosis, Hypophosphatemia, Mental deterioration, Retinopathy, Apl... |
ORPHA:2611 |
| Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Increased circulating ferritin concentration, Leukocytosis, Hepatospl... |
OMIM:618963 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:600649 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities |
|
Syndactyly, Microcephaly, Hypoplasia of the corpus callosum, Cerebral white matter hypoplasia, Cl... |
OMIM:619091 |
| Dent Disease 2 |
|
Elevated circulating creatine kinase concentration, Elevated circulating aspartate aminotransfera... |
OMIM:300555 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Cardiomeg... |
OMIM:618278 |
| Kenny-Caffey Syndrome, Type 1 |
|
Hypocalcemia, Hypomagnesemia, Decreased skull ossification, Calvarial osteosclerosis, Anemia |
OMIM:244460 |
| Summitt Syndrome |
|
Syndactyly |
OMIM:272350 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Osteomalacia, Bone cyst, Osteolysis, Abnormal form of the vertebral bodies, Abnormal adipose tiss... |
ORPHA:93160 |
| Alg12-Cdg |
|
Hyponatremia, Retinal detachment, Elevated hepatic transaminase, Thrombocytopenia, Muscular ventr... |
ORPHA:79324 |
| Leber Congenital Amaurosis 2 |
|
Keratoconus, Cataract, Eye poking |
OMIM:204100 |
| Sanjad-Sakati Syndrome |
|
Abnormal dental enamel morphology, Patchy osteosclerosis, Spinal canal stenosis, Hyperphosphatemi... |
ORPHA:2323 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 1 |
|
Class III obesity, Hypomagnesemia |
OMIM:616418 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Patchy osteosclerosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:241410 |
| Squalene Synthase Deficiency |
|
Bicuspid aortic valve, Optic nerve hypoplasia, Failure to thrive in infancy, Increased circulatin... |
OMIM:618156 |
| Liver Failure, Infantile, Transient |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Microvesicular hepatic steato... |
OMIM:613070 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:255120 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Osteopenia, Hypercalcemia, Hyperphosphatemia, Calvarial osteosclerosis, Metacarpal periosteal thi... |
OMIM:617994 |
| Cleft-Limb-Heart Malformation Syndrome |
|
Syndactyly |
OMIM:215850 |
| Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:619031 |
| Synpolydactyly 2 |
|
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... |
OMIM:608180 |
| Hypomelanosis Of Ito |
|
Syndactyly, Microcephaly, Cerebral atrophy, Hand polydactyly, Radial deviation of finger, Macroce... |
OMIM:300337 |
| Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... |
ORPHA:86841 |
| Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Failure to thrive, Ventricular septal defect, Small for gestational age, Increased ... |
OMIM:222470 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Finger syndactyly, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the fibula, Abnormal ... |
ORPHA:2141 |
| Galloway-Mowat Syndrome 8 |
|
Enamel hypoplasia, Hypoalbuminemia |
OMIM:618349 |
| Chylomicron Retention Disease |
|
Elevated hepatic transaminase, Hepatic steatosis, Hypertriglyceridemia, Acanthocytosis, Increased... |
ORPHA:71 |
| East Syndrome |
|
Ataxia, Inability to walk, Hypokalemia, Hyperaldosteronism, Increased circulating renin level, Di... |
ORPHA:199343 |
| Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... |
ORPHA:67044 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Papilledema, Retinal calcification, Cortical thickening of long bone diaphyses, Anemia, Hyperphos... |
ORPHA:93325 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Papilledema, Increased bone mineral density, Cortical sclerosis, Elevated circulating creatinine ... |
OMIM:620366 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Lipod... |
OMIM:612526 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Elevated hepatic transaminase, Autoimmune hemolytic anemia, Failure to thrive in infancy, Cachexi... |
ORPHA:37042 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Ataxia, Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotei... |
ORPHA:64753 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Waddling gait, Ventricular hypertrophy, Elevated hepatic transaminase, Left atrial enlargement, E... |
OMIM:300280 |
| Rh Deficiency Syndrome |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anisocytosis, Jaundice, Spherocytosis, Hepa... |
ORPHA:71275 |
| Laurin-Sandrow Syndrome |
|
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, A... |
OMIM:135750 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Elevated hepatic transaminase, Liver abscess, Lung abscess, Abnormal pericardium morphology, Leuk... |
ORPHA:67 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Elevated circulating creatine kinase concentration, Hypomagnesemia, Thrombocytopenia, Hypophospha... |
OMIM:619743 |
| Potocki-Lupski Syndrome |
|
Small for gestational age, Scoliosis, Hypocholesterolemia, Atrial septal defect, Failure to thriv... |
OMIM:610883 |
| Storage Pool Platelet Disease |
|
Decreased mean platelet volume, Acute leukemia |
OMIM:185050 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Abnormality of retinal pigmentation, Lumbar hyperlordosis, Short neck, Inability to walk, Thrombo... |
ORPHA:505248 |
| Bacterial Toxic-Shock Syndrome |
|
Fasciitis, Elevated circulating creatine kinase concentration, Confusion, Abscess, Myocarditis, P... |
ORPHA:36234 |
| Galloway-Mowat Syndrome 6 |
|
Hypoalbuminemia, Decreased body weight |
OMIM:618347 |
| Phenylketonuria |
|
Hyperactivity, Cataract, Aggressive behavior, Blue irides, Compulsive behaviors, Attention defici... |
OMIM:261600 |
| Hypomagnesemia 1, Intestinal |
|
Hypocalcemia, Hypomagnesemia |
OMIM:602014 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Increased mean platelet volu... |
OMIM:314050 |
| Corneal Dystrophy, Fuchs Endothelial, 1 |
|
Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran... |
OMIM:136800 |
| Refractory Anemia With Excess Blasts |
|
Abnormal circulating protein concentration, Acute myeloid leukemia, Anemia of inadequate producti... |
ORPHA:86839 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cachexia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Anemia |
OMIM:175500 |
| Helix Syndrome |
|
Hypokalemia, Hypermagnesemia |
OMIM:617671 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Hypertriglyceride... |
OMIM:608600 |
| Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Small for gestational age |
OMIM:256300 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Retinal cotton wool spot, Normocytic anemia, Progressive neurologic deterioration, Nodular regene... |
ORPHA:247691 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
| Summitt Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Genu valgum, Macrocephaly, Short palm, Clinodactyly o... |
ORPHA:3210 |
| Mannosidosis, Beta A, Lysosomal |
|
Hyperactivity, Tortuosity of conjunctival vessels, Aggressive behavior |
OMIM:248510 |
| Al Amyloidosis |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Abnormal cardia... |
ORPHA:85443 |
| Aminopterin Syndrome Sine Aminopterin |
|
Syndactyly, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Megalencephaly, Microceph... |
OMIM:600325 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hepatomegaly, Iron deficiency anemia, Hypoalbuminemia, Thrombocytosis, Hypoproteinemia, Anemia |
OMIM:226300 |
| Morm Syndrome |
|
Hyperactivity, Cataract, Aggressive behavior |
ORPHA:75858 |
| Coach Syndrome 2 |
|
Elevated hepatic transaminase, Congenital hepatic fibrosis, Elevated circulating creatinine conce... |
OMIM:619111 |
| Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, Dilated cardiomyopathy, Ventricular septal defect, Hypoalbuminemia |
OMIM:616730 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Decreased circu... |
OMIM:242150 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
| Intellectual Developmental Disorder, Autosomal Dominant 4 |
|
Syndactyly, Short toe |
OMIM:612581 |
| Congenital Toxoplasmosis |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormality of retinal pigmentation, Failure to thri... |
ORPHA:858 |
| Leber Congenital Amaurosis 8 |
|
Keratoconus, Cataract, Eye poking |
OMIM:613835 |
| Fanconi-Bickel Syndrome |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypouricemia, Osteomalacia, Elevated circulati... |
OMIM:227810 |
| Thrombocytopenia 3 |
|
Thrombocytopenia, Decreased mean platelet volume |
OMIM:273900 |
| Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated hepatic transaminase, Elevated circulating C-reactive protein concentratio... |
ORPHA:247353 |
| Hypomagnesemia 4, Renal |
|
Hypomagnesemia |
OMIM:611718 |
| Thrombotic Thrombocytopenic Purpura |
|
Reticulocytosis, Confusion, Microangiopathic hemolytic anemia, Decreased serum creatinine, Thromb... |
ORPHA:54057 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Anisocytosis, Flexion contracture, Aminoaciduria, Camptodactyly, Failure to thrive |
OMIM:604273 |
| Vitamin D-Dependent Rickets, Type 3 |
|
Osteopenia, Hypocalcemia, Hypophosphatemia |
OMIM:619073 |
| Thrombocytopenia 1 |
|
Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia |
OMIM:313900 |
| Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Cardiomegaly, Splenomegaly, Incre... |
OMIM:235200 |
| Colchicine Poisoning |
|
Hyponatremia, Myocarditis, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypo... |
ORPHA:31824 |
| Exercise-Induced Malignant Hyperthermia |
|
Ataxia, Elevated circulating creatine kinase concentration, Confusion, Hyperkalemia, Hyperphospha... |
ORPHA:466650 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypouricemia, Hypoglycemia, Large... |
OMIM:616026 |
| Leber Congenital Amaurosis 1 |
|
Keratoconus, Cataract, Eye poking |
OMIM:204000 |
| Malignant Hyperthermia Of Anesthesia |
|
Acute hepatic failure, Hyperkalemia, Cardiomyocyte mitochondrial proliferation, Hyperphosphatemia... |
ORPHA:423 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Elevated hepatic transaminase, Hypoglycemia, Conjugated hyperbilirubinemia, Mic... |
OMIM:617156 |
| Cystinosis |
|
Portal hypertension, Rickets, Hypokalemia, Aminoaciduria, Gait disturbance, Hypophosphatemia, Typ... |
ORPHA:213 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... |
OMIM:619271 |
| Acute Myelomonocytic Leukemia |
|
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia |
ORPHA:517 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric... |
OMIM:241520 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Failure to thrive, Decreased serum iron, Dilated cardiomyopathy, Flexion contracture, Depression,... |
ORPHA:89842 |
| Primary Sclerosing Cholangitis |
|
Osteopenia, Acute hepatic failure, Abnormal eosinophil morphology, Hypoalbuminemia, Hepatic fibro... |
ORPHA:171 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Hypochloremia, Hypokalemia, Hyperaldosteronism, Increased circulating renin level, ... |
OMIM:214700 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Reduced bone mineral density, Hypoalbuminemia, Hypocalcemia, Hepatic steatosis, Porta... |
OMIM:613658 |
| Fibronectin Glomerulopathy |
|
Hypoalbuminemia |
ORPHA:84090 |
| Pelger-Huet Anomaly |
|
Ventricular septal defect, Abnormality of neutrophils, Kyphosis, Hyposegmentation of neutrophil n... |
OMIM:169400 |
| Camptobrachydactyly |
|
Syndactyly, Short toe, Hand polydactyly, Congenital finger flexion contractures, Brachydactyly |
OMIM:114150 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated circulating creatine kinase concentration, Cardiomegaly, Knee flexion contracture, Macro... |
OMIM:608836 |
| Acropectorovertebral Dysplasia |
|
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Triphalangeal thumb, Synostosis of... |
ORPHA:957 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... |
ORPHA:3329 |
| Hemorrhagic Fever-Renal Syndrome |
|
Elevated hepatic transaminase, Back pain, Confusion, Thrombocytopenia, Leukocytosis, Hyperkalemia... |
ORPHA:340 |
| Syndromic Diarrhea |
|
Hepatomegaly, Inguinal hernia, Lymphopenia, Bicuspid aortic valve, Ventricular septal defect, Sma... |
ORPHA:84064 |
| Infantile Sialic Acid Storage Disease |
|
Osteopenia, Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Vacuolated l... |
OMIM:269920 |
| Renal Failure, Progressive, With Hypertension |
|
Elevated circulating creatinine concentration |
OMIM:161900 |
| Mesomelic Dysplasia, Nievergelt Type |
|
Finger syndactyly, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elbow dislocation,... |
ORPHA:2633 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Left ventricular hypertrophy, Flexion contracture, Elevated circulating creatinine concentration,... |
OMIM:616733 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... |
OMIM:618838 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Failure to thrive, Bicuspid aortic valve, Decreased serum creatinine, Atrial septal defect, Hypoh... |
OMIM:617744 |
| Hypomagnesemia 6, Renal |
|
Hypomagnesemia |
OMIM:613882 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production |
OMIM:603529 |
| Juvenile Arthritis |
|
Thrombocytosis, Leukocytosis |
OMIM:618795 |
| Relapsing Fever |
|
Elevated hepatic transaminase, Neutrophilia, Elevated circulating C-reactive protein concentratio... |
ORPHA:91547 |
| Avian Influenza |
|
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Elevated circu... |
ORPHA:454836 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Acute hepatic failure, Fasting hyperinsulinemia, Hypoglycemic seizures, Hepatic necrosis, Letharg... |
ORPHA:71212 |
| Isolated Split Hand-Split Foot Malformation |
|
Finger syndactyly, Split hand, Absent hand, Oligodactyly |
ORPHA:2440 |
| Monosomy 5P |
|
Finger syndactyly, Intrauterine growth retardation, Small hand, Microcephaly |
ORPHA:281 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Thin bony cortex, Delayed epiphyseal ossification, Rickets, Generalized aminoaciduria, Irritabili... |
OMIM:264700 |
| Cystinosis, Nephropathic |
|
Hyponatremia, Hepatomegaly, Diabetes mellitus, Failure to thrive in infancy, Progressive neurolog... |
OMIM:219800 |
| Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Episodic hypokalemia, Hypomagnesemia |
ORPHA:564178 |
| Gordon Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Camptodactyly of finger |
ORPHA:376 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele... |
OMIM:187800 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... |
OMIM:604367 |
| Ménétrier Disease |
|
Hypoproteinemia, Hypoalbuminemia, Hypochromic microcytic anemia, Weight loss |
ORPHA:2494 |
| Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia |
OMIM:610725 |
| Leber Congenital Amaurosis 4 |
|
Keratoconus |
OMIM:604393 |
| Brachydactyly, Type B1 |
|
Type B brachydactyly, Syndactyly, Aplasia/Hypoplasia of the distal phalanges of the toes, Aplasia... |
OMIM:113000 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Portal hypertension, Cardiomegaly, Hepatocel... |
ORPHA:465508 |
| Xfe Progeroid Syndrome |
|
Elevated hepatic transaminase, Cachexia, Absence of subcutaneous fat, Optic atrophy, Corneal scar... |
OMIM:610965 |
| Carpenter Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, Postaxial hand polydactyly, Genu valgum, Polydacty... |
ORPHA:65759 |
| Chronic Bilirubin Encephalopathy |
|
Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbili... |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbili... |
ORPHA:529799 |
| Sclerosteosis |
|
Finger syndactyly, 2-3 finger syndactyly, Diaphyseal thickening, Curved distal phalanges of the hand |
ORPHA:3152 |
| C3 Glomerulopathy |
|
Lipodystrophy, Drusen, Elevated circulating creatinine concentration, Yellow/white lesions of the... |
ORPHA:329918 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Osteomalacia, Rickets, Iron deficiency anemia, Hypocalcemia, Hypophosphatemia, Tooth abscess |
ORPHA:89937 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Attention deficit hyperact... |
OMIM:620211 |
| Dermatitis, Atopic |
|
Keratoconus, Cataract, Conjunctivitis |
OMIM:603165 |
| Nevus Comedonicus Syndrome |
|
Finger syndactyly, Toe syndactyly, Spina bifida, Microcephaly, Preaxial polydactyly, Spina bifida... |
ORPHA:64754 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Increased mean platelet volume, Enamel hypomineralization, Iron deficiency anemia, Neutropenia, T... |
ORPHA:494444 |
| Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
| Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia |
OMIM:614196 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypertriglyceridemia, Peritonitis, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating li... |
ORPHA:567548 |
| Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Macrothrombocytopenia, Gia... |
OMIM:155100 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Elevated circulating creatinine concentration, Hyperuricemia, Anemia, Neutropenia |
OMIM:617056 |
| Marburg Hemorrhagic Fever |
|
Elevated hepatic transaminase, Reticulocytosis, Pericarditis, Lymphopenia, Hypoglycemia, Elevated... |
ORPHA:99826 |
| Lathosterolosis |
|
Elevated hepatic transaminase, Bilobate gallbladder, Increased mean platelet volume, Acanthocytos... |
OMIM:607330 |
| Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Decreased HDL cholesterol concentration, Failure to thrive, Decreased LDL cholesterol concentrati... |
OMIM:616834 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypocalcemia, Difficulty walkin... |
OMIM:600081 |
| Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypoglycemia, Small for gestational age, Cardiomegaly, Pericardial effusion, Optic atrophy, Hyper... |
OMIM:614702 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hyperalaninemia, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive in infancy, Cardi... |
OMIM:619064 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Nonketotic hypoglycemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Cardio... |
OMIM:201475 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Small for gestational age, Amin... |
OMIM:619055 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Pericardial effusion, Hypoalbuminemia, Hypocalcemia, Hypomagn... |
OMIM:618183 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Thin bony cortex, Osteomalacia, Delayed epiphyseal ossification, Rickets, Generalized aminoacidur... |
ORPHA:289157 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Syndactyly, Clinodactyly, Brachydactyly |
OMIM:610023 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M... |
OMIM:235400 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia |
OMIM:300971 |
| Primary Biliary Cholangitis |
|
Portal hypertension, Conjugated hyperbilirubinemia, Jaundice, Hepatic failure, Osteoporosis, Bili... |
ORPHA:186 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hypokalemia, Hypomagnesemia |
OMIM:618314 |
| Terminal Osseous Dysplasia |
|
Syndactyly, Camptodactyly of finger, Abnormal hand bone ossification, Short toe, Mesomelic arm sh... |
OMIM:300244 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Dextrocardia, Elevated circulating alpha-fetoprotein concentration, Situs inversus ... |
OMIM:613095 |
| Orthostatic Hypotension 1 |
|
Hypomagnesemia, Neonatal hypoglycemia, Increased blood urea nitrogen |
OMIM:223360 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Thin bony cortex, Delayed epiphyseal ossification, Rickets, Irritability, Sparse bone trabeculae,... |
OMIM:277440 |
| Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Abnormal circulating calcium concentration, Delayed epiphyseal ossification, Rickets, Sparse bone... |
OMIM:241530 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Confusion, Jaundice, Schistocytosis, Elevated circulating creatinine concentrati... |
OMIM:274150 |
| Boomerang Dysplasia |
|
Finger syndactyly, Abnormal morphology of the radius, Abnormal morphology of ulna, Micromelia, Ap... |
ORPHA:1263 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... |
OMIM:612576 |
| Bardet-Biedl Syndrome 4 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615982 |
| Periventricular Nodular Heterotopia 1 |
|
Syndactyly, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, Short finger, Clinodactyly,... |
OMIM:300049 |
| Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
|
Syndactyly, Congenital bilateral hip dislocation, Cerebral cortical atrophy, Dystonia |
ORPHA:404451 |
| Genetic Steroid-Resistant Nephrotic Syndrome |
|
Irritability, Peritonitis, Hypoalbuminemia |
ORPHA:656 |
| Myh9-Related Disease |
|
Elevated hepatic transaminase, Increased mean platelet volume, Giant platelets, Neutrophil inclus... |
ORPHA:182050 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Thoracic scoliosis, Failure to thrive in infancy, Kyphoscoliosis, Short neck, Thrombo... |
OMIM:611209 |
| Congenital Erythropoietic Porphyria |
|
Osteopenia, Hemolytic anemia, Reticulocytosis, Scarring, Anisocytosis, Increased connective tissu... |
ORPHA:79277 |
| Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Rickets, Osteomalacia, Hypophosphatemia |
OMIM:193100 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Myopic astigmatism, Developmental cataract, Atte... |
OMIM:620141 |
| Bartter Syndrome, Type 1, Antenatal |
|
Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Small for gestatio... |
OMIM:601678 |
| Charlie M Syndrome |
|
Finger syndactyly, Split hand, Triphalangeal thumb, Abnormal metacarpal morphology, Brachydactyly |
ORPHA:1406 |
| Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad... |
ORPHA:2378 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Unsteady gait, Gait ataxia, Normochromic anemia, Hypoalbuminemia, Mental deterioration, Thrombocy... |
OMIM:254900 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Syndactyly, Arachnodactyly, Microcephaly, Tremor, Clinodactyly |
OMIM:619092 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Cardiomegaly, Limb ataxia, Hyperammonemia, Truncal ataxia, Mental deteri... |
OMIM:619051 |
| Filippi Syndrome |
|
Single transverse palmar crease, Microcephaly, 2-4 toe syndactyly, Cutaneous syndactyly, Finger c... |
OMIM:272440 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Hyperaldosteronism, Failure to thrive |
OMIM:613090 |
| Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
| Hypercalcemia, Infantile, 2 |
|
Failure to thrive, Hypercalcemia, Hypophosphatemia |
OMIM:616963 |
| Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume |
OMIM:615193 |
| Keratoconus Posticus Circumscriptus |
|
Keratoconus, Central posterior corneal opacity |
OMIM:244600 |
| Leber Congenital Amaurosis |
|
Keratoconus, Cataract |
ORPHA:65 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Periostosis, Hyperostosis, Hypoalbuminemia |
OMIM:614441 |
| Hypomagnesemia 2, Renal |
|
Hypokalemia, Chondrocalcinosis, Hypomagnesemia |
OMIM:154020 |
| Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Waddling gait, Osteomalacia, Increased circulating beta-C-terminal telopeptide concentration, Red... |
ORPHA:157215 |
| Greig Cephalopolysyndactyly Syndrome |
|
Broad hallux phalanx, Broad hallux, 1-3 toe syndactyly, Preaxial hand polydactyly, Postaxial hand... |
OMIM:175700 |
| Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Ataxia, Hypokalemia, Dysdiadochokinesis, Hyperaldosteronism, Increased circulating renin level, H... |
OMIM:612780 |
| Fibrous Dysplasia Of Bone |
|
Abnormality of the cervical spine, Thin bony cortex, Antalgic gait, Diabetes mellitus, Hypercalce... |
ORPHA:249 |
| Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hepatomegaly, Hypercalcemia, Splenomegaly, Aminoaciduria, Hypophosphatemia, Failure t... |
OMIM:239200 |
| Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Abnormal circulating biopterin concentration, Maturity-onset diabetes of the young, Hyperphenylal... |
ORPHA:1578 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Increased circulating free fatty acid level, Large for gestational age, ... |
ORPHA:293964 |
| Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Short thumb, Palmoplantar keratoderma, Triphalangeal ... |
ORPHA:2251 |
| Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Aggressive behavior, Blue irides, Recurrent hand flapping, Self-mutilation |
OMIM:615516 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
| Holt-Oram Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi... |
OMIM:142900 |
| Bartter Syndrome, Type 2, Antenatal |
|
Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Small for gestational age, Hypoch... |
OMIM:241200 |
| Familial Isolated Hyperparathyroidism |
|
Osteopenia, Hypercalcemia, Hypophosphatemia, Chondrocalcinosis, Generalized osteoporosis |
ORPHA:99879 |
| Orotic Aciduria |
|
Ventricular septal defect, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-res... |
OMIM:258900 |
| Bartter Syndrome Type 4 |
|
Hyponatremia, Small for gestational age, Hypochloremia, Hypokalemia, Hyperaldosteronism, Increase... |
ORPHA:89938 |
| Takenouchi-Kosaki Syndrome |
|
Inguinal hernia, Ataxia, Increased mean platelet volume, Optic atrophy, Abnormal cardiac septum m... |
OMIM:616737 |
| Bernard-Soulier Syndrome |
|
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Impaired ristocetin-induced platelet ag... |
OMIM:231200 |
| Secondary Intestinal Lymphangiectasia |
|
Lymphopenia, Reduced circulating transferrin concentration, Hypoalbuminemia, Cirrhosis, Hypochole... |
ORPHA:90363 |
| Mccune-Albright Syndrome |
|
Pancytopenia, Osteomalacia, Monostotic fibrous dysplasia, Fibrous dysplasia of the bones, Hepatit... |
ORPHA:562 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Pericardial lymphangiectasia, Ventricular septal defect, Pericardial effusion, Spina bifida occul... |
OMIM:235510 |
| Pancreatic Lipase Deficiency |
|
Hypocholesterolemia, Steatorrhea |
OMIM:614338 |
| Joubert Syndrome 33 |
|
Syndactyly, Macrocephaly |
OMIM:617767 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Elevated hepatic transaminase, Hyperlipidemia, Hyperinsulinemia, Obesity, Hyperglycemia |
ORPHA:329249 |
| Glycogen Storage Disease Ixa1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hy... |
OMIM:306000 |
| Platelet Glycoprotein Iv Deficiency |
|
Giant platelets, Thrombocytopenia |
OMIM:608404 |
| Hsd10 Disease, Infantile Type |
|
Hypoglycemia, Cardiomegaly, Optic atrophy, Hyperammonemia, Choreoathetosis, Loss of ambulation, H... |
ORPHA:391428 |
| Slc35A1-Cdg |
|
Giant platelets, Neutropenia, Cellulitis, Abnormal platelet granules, Thrombocytopenia |
ORPHA:238459 |
| Fanconi Renotubular Syndrome 5 |
|
Hypophosphatemic rickets, Glycosuria, Aminoaciduria, Hypophosphatemia |
OMIM:618913 |
| Juvenile Temporal Arteritis |
|
Leukocytosis, Eosinophilia |
ORPHA:26137 |
| Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Decreased HDL cholesterol concentration, Bone-marrow foam cells, Leukopeni... |
OMIM:278000 |
| Limb-Mammary Syndrome |
|
Hallux valgus, Syndactyly, Split hand, Split foot, Camptodactyly, Joint contracture of the hand |
OMIM:603543 |
| Attrv122I Amyloidosis |
|
Increased circulating NT-proBNP concentration, Cardiomegaly, Spinal canal stenosis, Hypertrophic ... |
ORPHA:85451 |
| Multiple Myeloma |
|
Osteopenia, Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Weight lo... |
ORPHA:29073 |
| Interstitial Nephritis, Karyomegalic |
|
Elevated hepatic transaminase, Glycosuria, Elevated circulating creatinine concentration, Increas... |
OMIM:614817 |
| Diffuse Alveolar Hemorrhage |
|
Leukocytosis, Elevated circulating creatinine concentration, Weight loss, Anemia, Thrombocytopenia |
ORPHA:90060 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Optic disc pallor, Cardiomegaly, Hyperprolinemia, Perimembranous ventricular septal defect, Hyper... |
OMIM:619170 |
| Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Obesity, Weight loss, Hypomagnese... |
ORPHA:79102 |
| Hypophosphatemic Bone Disease |
|
Rickets, Osteomalacia, Hypophosphatemia |
OMIM:146350 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Osteomalacia, Abnormal circulating calcium concentration, Enamel hypomineralization, Rickets, Spi... |
OMIM:307800 |
| Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hepatomegaly, Hypertrophic cardiomyopathy, Hypocholesterolemia |
OMIM:618810 |
| Aplasia Cutis Congenita |
|
Finger syndactyly, Toe syndactyly, Spinal dysraphism |
ORPHA:1114 |
| Giant platelet syndrome with thrombocytopenia |
|
Giant platelets, Thrombocytopenia |
OMIM:137560 |
| Brittle Cornea Syndrome |
|
Corneal dystrophy, Corneal erosion, Abnormality of hair pigmentation, Corneal scarring, Keratoglo... |
ORPHA:90354 |
| Gitelman Syndrome |
|
Ataxia, Hypokalemia, Increased circulating renin level, Hypomagnesemia, Failure to thrive, Chondr... |
OMIM:263800 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Elevated hepatic transaminase, Ketotic hypoglycemia, Hyperlipidemia, Irritability, Glycosuria, Po... |
ORPHA:2089 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Reduced blood urea nitrogen, Irritability, Decreased serum creatinine, Decreased ci... |
OMIM:300539 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Multiple muscular ventricular septal defects, Hypoalbuminemia, Hypernatremia, Pulmonic stenosis, ... |
OMIM:615508 |
| Mody |
|
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... |
ORPHA:552 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hyperactivity, Hypopigmentation of hair, Inappropriate laughter, Polyphagia, Iris hypopigmentation |
ORPHA:411515 |
| Microtriplication 11Q24.1 |
|
Keratoconus, Synophrys, Long eyelashes, Bruxism, Thick eyebrow |
ORPHA:289522 |
| Neuraminidase Deficiency |
|
Hepatomegaly, Inguinal hernia, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lym... |
OMIM:256550 |
| Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
| Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Pericardial effusion, Dilated cardiomyopathy, Hepatic calcification, Hyperaldosteronism, Hypocalc... |
ORPHA:73224 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration, Ataxia |
OMIM:612736 |
| Renal Tubular Acidosis, Distal, 1 |
|
Hypokalemia, Osteomalacia, Elevated circulating creatinine concentration, Hypocalcemia |
OMIM:179800 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... |
ORPHA:75564 |
| Idiopathic Non-Lupus Full-House Nephropathy |
|
Elevated circulating creatinine concentration |
ORPHA:567544 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612926 |
| Juvenile Polyposis Of Infancy |
|
Refractory anemia, Cachexia, Abnormal heart morphology, Anemia, Hypoalbuminemia, Atrial septal de... |
ORPHA:79076 |
| Fanconi Renotubular Syndrome 1 |
|
Osteomalacia, Rickets, Hypophosphatemia, Hypokalemia, Aminoaciduria, Glycosuria |
OMIM:134600 |
| Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Finger syndactyly, Arachnodactyly, Camptodactyly of finger, Microcephaly, Triphalangeal thumb, Sh... |
ORPHA:2994 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... |
OMIM:300835 |
| Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Osteomalacia, Rickets, Generalized aminoaciduria, Hypophosphatemia, Glycosuria |
OMIM:613388 |
| Juvenile Polyposis Syndrome |
|
Hypokalemia, Failure to thrive, Hypoalbuminemia, Anemia |
OMIM:174900 |
| Endove Syndrome, Limb-Only Type |
|
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... |
OMIM:619217 |
| Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Synophrys, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:615541 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypoproteinemia, Hepatomegaly, Elevated hepatic transaminase, Ventricular septal defect, Elevated... |
ORPHA:26793 |
| Tangier Disease |
|
Hypertriglyceridemia, Thrombocytopenia, Hepatosplenomegaly, Hypocholesterolemia, Left ventricular... |
ORPHA:31150 |
| Fanconi Renotubular Syndrome 3 |
|
Aminoaciduria, Elevated circulating creatinine concentration, Rickets, Glycosuria |
OMIM:615605 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Glycosuria, Aminoaciduria, Hypophosphatemia |
OMIM:308990 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612924 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Syndactyly, Megalencephaly, Progressive macrocephaly, Polydactyly, Cavum septum pellucidum, Polym... |
OMIM:602501 |
| Oncogenic Osteomalacia |
|
Fibrous dysplasia of the bones, Gait disturbance, Hypocalcemia, Hypophosphatemia, Abnormal verteb... |
ORPHA:352540 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Short metatarsal, Radioulnar s... |
OMIM:605282 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612925 |
| Craniofrontonasal Dysplasia |
|
Finger syndactyly, Broad hallux phalanx, Sandal gap, Camptodactyly of finger, Down-sloping should... |
ORPHA:1520 |
| Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Hepatomegaly, Inguinal hernia, Elevated circulating creatinine concentration, Attenuation of reti... |
OMIM:614376 |
| Nephrotic Syndrome, Type 8 |
|
Hypoalbuminemia |
OMIM:615244 |
| Charcot-Marie-Tooth Disease, Type 4B3 |
|
Syndactyly, Microcephaly |
OMIM:615284 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc... |
ORPHA:90038 |
| Pseudo-Torch Syndrome 3 |
|
Cardiomegaly, Increased circulating ferritin concentration, Leukocytosis, Congenital thrombocytop... |
OMIM:618886 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre... |
OMIM:617443 |
| Moebius Syndrome |
|
Syndactyly, Brachydactyly, Split hand, Abnormal pelvic girdle bone morphology, Hypoplasia of the ... |
OMIM:157900 |
| Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Amelogenesis imperfecta, Rod-cone dystrophy, Macular coloboma, Hypomagnesemia |
OMIM:248190 |
| Rubinstein-Taybi Syndrome 2 |
|
Syndactyly, Broad hallux, Microcephaly, Short first metatarsal, Short 5th toe, Prominent fingerti... |
OMIM:613684 |
| Nephronophthisis 2 |
|
Situs inversus totalis, Elevated circulating creatinine concentration, Hyperkalemia, Enlarged kidney |
OMIM:602088 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Osteopenia, Osteoporosis, Hypophosphatemia |
OMIM:612287 |
| Aapoaiv Amyloidosis |
|
Back pain, Diabetes mellitus, Cardiac amyloidosis, Hyperlipidemia, Elevated circulating creatinin... |
ORPHA:439232 |
| Weaver Syndrome |
|
Finger syndactyly, Sandal gap, Camptodactyly of finger, Large hands, Talipes equinovarus, Macroce... |
ORPHA:3447 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosi... |
OMIM:618858 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperlipidemia, Gait disturbance, Mildly elevated creatine kinase, Hyperglycemia |
OMIM:604484 |
| Retinitis Pigmentosa |
|
Keratoconus, Cataract |
ORPHA:791 |
| Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Syndactyly, Osteolysis involving bones of the upper limbs, Osteolysis involving bones of the lowe... |
ORPHA:88630 |
| Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... |
OMIM:619827 |
| Curry-Jones Syndrome |
|
Finger syndactyly, Toe syndactyly, Abnormality of thumb phalanx, Preaxial hand polydactyly, Foot ... |
ORPHA:1553 |
| Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome |
|
Abnormal thumb morphology, Finger syndactyly, Abnormality of the wrist, Proximal placement of thumb |
ORPHA:1825 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Decreased HDL cholesterol concentrati... |
OMIM:151660 |
| Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... |
ORPHA:2457 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Osteopenia, Secundum atrial septal defect, Conjugated hyperbilirubinemia, Primum atrial septal de... |
OMIM:619534 |
| Insensitivity To Pain, Congenital, With Anhidrosis |
|
Sparse scalp hair, Hyperactivity, Keratitis, Corneal scarring, Nail dystrophy, Recurrent corneal ... |
OMIM:256800 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Scarring, Craniosynostosis, Atrophic scars, Hypoalbuminemia, Enamel hypoplasia, Failure to thrive... |
ORPHA:79396 |
| Nephronophthisis-Like Nephropathy 2 |
|
Elevated circulating creatinine concentration |
OMIM:619468 |
| Acute Interstitial Pneumonia |
|
Pericardial effusion, Elevated circulating creatinine concentration, Reduced hematocrit, Elevated... |
ORPHA:79126 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Thrombocytopenia, Impaired ADP-in... |
OMIM:153670 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Osteopenia, Osteoporosis, Hypophosphatemia |
OMIM:612286 |
| Fructose Intolerance, Hereditary |
|
Elevated hepatic transaminase, Hepatomegaly, Transient aminoaciduria, Hypoglycemia, Jaundice, Bic... |
OMIM:229600 |
| Refsum Disease, Classic |
|
Ataxia, Cardiomegaly, Elevated circulating phytanic acid concentration, Cardiomyopathy, Rod-cone ... |
OMIM:266500 |
| Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o... |
ORPHA:93322 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypophosphatemia,... |
OMIM:300554 |
| Pfeiffer Syndrome Type 1 |
|
Broad hallux phalanx, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Short h... |
ORPHA:93258 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Proximal radio-ulnar synostosis, Syndactyly, Radial bowing, Ulnar bowing, Hip dislocation, Clinod... |
OMIM:605432 |
| Fucosidosis |
|
Cervical platyspondyly, Hepatomegaly, Beaking of vertebral bodies, Lumbar hyperlordosis, Ovoid ve... |
OMIM:230000 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Flexion contracture, Knee flexion contracture, Hypocalcemia, Low frustration tolerance, Hepatic s... |
OMIM:619503 |
| Ring Chromosome 21 Syndrome |
|
Syndactyly, Microcephaly, Small hand, Narrow palm, Clinodactyly |
ORPHA:1445 |
| Infantile Nephropathic Cystinosis |
|
Rickets, Abnormal blood ion concentration, Hypophosphatemia, Pigmentary retinopathy, Hypokalemia,... |
ORPHA:411629 |
| Dent Disease 1 |
|
Osteomalacia, Delayed epiphyseal ossification, Rickets, Hypophosphatemia, Sparse bone trabeculae,... |
OMIM:300009 |
| Fibular Hemimelia |
|
Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Arthralgia of the hip, Finger ... |
ORPHA:93323 |
| Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Broad hallux, Postaxial hand polydactyly, 2-3 finger syndactyly, 2-3 toe syndactyly, Postaxial po... |
OMIM:217085 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Diabetes mellitus, Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, T... |
OMIM:606176 |
| Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Elevated hepatic transaminase, Elevated circulating creatinine concentration, Elevated circulatin... |
OMIM:620138 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Small for gestational age, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal ... |
OMIM:620135 |
| Necrotizing Enterocolitis |
|
Hyponatremia, Small for gestational age, Leukocytosis, Peritonitis, Abnormal heart morphology, Ab... |
ORPHA:391673 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased circulating apolipoprotein A-I concentration, Hepatomegaly, Decreased HDL cholesterol c... |
ORPHA:85450 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Waddling gait, Hip contracture, Osteopenia, Hypercalcemia, Knee flexion contracture, Hypophosphat... |
OMIM:156400 |
| Cantu Syndrome |
|
Bicuspid aortic valve, Ovoid vertebral bodies, Cardiomegaly, Pericardial effusion, Large for gest... |
OMIM:239850 |
| Grange Syndrome |
|
Syndactyly, Short palm |
ORPHA:79094 |
| Bardet-Biedl Syndrome 9 |
|
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Polyda... |
OMIM:615986 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Increased mean platelet volume |
OMIM:300048 |
| Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Progressive neurologic deterioration, Cardiomegaly, Splenomegaly, Ovoid thoracolumb... |
OMIM:252920 |
| Galloway-Mowat Syndrome 1 |
|
Ataxia, Small for gestational age, Hiatus hernia, Optic atrophy, Hypoalbuminemia, Camptodactyly, ... |
OMIM:251300 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Osteomalacia, Elevated circulating C-reactive protein conc... |
OMIM:619381 |
| Epidermolysis Bullosa, Lethal Acantholytic |
|
Syndactyly, Sandal gap, Widely spaced toes, Mitten deformity, Clinodactyly of the 5th finger, Tap... |
OMIM:609638 |
| Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Syndactyly, Microcephaly, Cerebellar hypoplasia, Dystonia, Clinodactyly |
OMIM:618087 |
| Optic Atrophy-Intellectual Disability Syndrome |
|
Keratoconus, Repetitive compulsive behavior, Attention deficit hyperactivity disorder, Compulsive... |
ORPHA:401777 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors |
ORPHA:101039 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Hypoglycemia, Insulin resistance, Hyperinsulinemia, Elevated circulating creatinine concentration... |
ORPHA:230 |
| Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Finger syndactyly, Cerebral calcification, Toe syndactyly, Arachnodactyly, Microcephaly, Short pa... |
ORPHA:73246 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Hyperaldosteronism, Failure to thrive |
OMIM:602522 |
| Arthrogryposis, Distal, Type 5 |
|
Keratoconus, Keratoglobus, Astigmatism |
OMIM:108145 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulat... |
ORPHA:228308 |
| Multiple Synostoses Syndrome 1 |
|
Single transverse palmar crease, Symphalangism affecting the phalanges of the hand, Cutaneous fin... |
OMIM:186500 |
| Orofaciodigital Syndrome Viii |
|
Syndactyly, Short tibia, Polydactyly |
OMIM:300484 |
| Timothy Syndrome |
|
Ventricular septal defect, Hypoglycemia, Cardiomegaly, Hypocalcemia, Tetralogy of Fallot, Patent ... |
OMIM:601005 |
| Maturity-Onset Diabetes Of The Young, Type 13 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... |
OMIM:616329 |
| Desbuquois Dysplasia 2 |
|
Relative macrocephaly, Epiphyseal dysplasia, Short metacarpal, Single transverse palmar crease, M... |
OMIM:615777 |
| Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block |
|
Keratoconus |
OMIM:609438 |
| Lysinuric Protein Intolerance |
|
Osteopenia, Decreased HDL cholesterol concentration, Leukopenia, Lethargy, Hepatomegaly, Abnormal... |
ORPHA:470 |
| Angelman Syndrome |
|
Keratoconus, Hyperactivity, Aggressive behavior, Tongue thrusting, Self-injurious behavior, Astig... |
ORPHA:72 |
| Poland Syndrome |
|
Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Hypoplasia of deltoid muscle |
OMIM:173800 |
| Leber Congenital Amaurosis 9 |
|
Keratoconus, Eye poking |
OMIM:608553 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Abnormal pulmonary valve morphology, Craniosynostosis, Splenomegaly, Reduced bone m... |
ORPHA:667 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adip... |
OMIM:248370 |
| Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Left atrial enlargement, Increased c... |
ORPHA:57777 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Renal hypophosphatemia, Oste... |
ORPHA:289176 |
| Mulibrey Nanism |
|
Hepatomegaly, Cardiomegaly, Myocardial fibrosis, Pigmentary retinopathy, Pericardial constriction... |
OMIM:253250 |
| Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Elevated circulating creatinine concentration |
OMIM:242530 |
| Kaufman Oculocerebrofacial Syndrome |
|
Optic disc pallor, Ventricular septal defect, Ovoid vertebral bodies, Hypocholesterolemia, Atrial... |
OMIM:244450 |
| Papillorenal Syndrome |
|
Retinal detachment, Morning glory anomaly, Macular hyperpigmentation, Optic disc coloboma, Elevat... |
OMIM:120330 |
| Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Highly arched eyebrow, Hirsutism, Decreased corneal thickness |
ORPHA:293967 |
| 20P13 Microdeletion Syndrome |
|
Finger syndactyly, Microcephaly, Polydactyly, Macrocephaly, Clinodactyly, Brachydactyly |
ORPHA:313781 |
| Filippi Syndrome |
|
Enlarged epiphyses, Finger syndactyly, Microcephaly, Limb dystonia, Clinodactyly of the 5th finge... |
ORPHA:3255 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Lipodystrophy, Failure to thrive in infancy, Elevated circulating C-reactive protei... |
OMIM:617099 |
| Holt-Oram Syndrome |
|
Finger syndactyly, Down-sloping shoulders, Absent thumb, Abnormality of the humerus, Split hand, ... |
ORPHA:392 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
| Galloway-Mowat Syndrome 3 |
|
Failure to thrive, Hypoalbuminemia, Camptodactyly, Hiatus hernia |
OMIM:617729 |
| Hypomagnesemia 3, Renal |
|
Failure to thrive, Hyperuricemia, Hypomagnesemia |
OMIM:248250 |
| Ritscher-Schinzel Syndrome 2 |
|
Relative macrocephaly, Syndactyly, Broad hallux, Overlapping toe, Camptodactyly of finger, Clinod... |
OMIM:300963 |
| Liver Disease, Severe Congenital |
|
Cardiomegaly, Biliary hyperplasia, Leukopenia, Aminoaciduria, Hypocalcemia, Lymphocytosis, Elevat... |
OMIM:619991 |
| Congenital Myopathy 8 |
|
Scoliosis, Cardiomegaly |
OMIM:618654 |
| Acrofrontofacionasal Dysostosis 2 |
|
Syndactyly, Broad hallux, Microcephaly, Hand polydactyly, Broad thumb |
OMIM:239710 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Elevated hemoglobin A1c, Maternal diabetes, Reduced C-peptide level, Transient neonatal diabetes ... |
OMIM:610582 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Clinodactyly of the 5th finger, Syndactyly, Toe syndactyly |
OMIM:601163 |
| Smith-Lemli-Opitz Syndrome |
|
Hepatomegaly, Sacral dimple, Ventricular septal defect, Splenomegaly, Epiphyseal stippling, Chole... |
OMIM:270400 |
| Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Elevated circulating crea... |
OMIM:614921 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Syndactyly, Palmoplantar keratoderma |
OMIM:613576 |
| Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Short 2nd finger, Sandal gap, Broad hallux, Microcephaly, 2-3 toe syndactyly, Cutaneous syndactyl... |
OMIM:600987 |
| Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Rickets, Hypercalcemia, Hypophosphatemia |
OMIM:612089 |
| Cranioectodermal Dysplasia |
|
Finger syndactyly, Brachydactyly, Rhizomelia, Abnormal diaphysis morphology, Clinodactyly of the ... |
ORPHA:1515 |
| Cutis Laxa, Autosomal Recessive, Type Iie |
|
Syndactyly, Genu varum, Hip dislocation, Deep palmar crease, Clinodactyly of the 5th finger, Brac... |
OMIM:619451 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Hydranencephaly, Single transverse palmar crease, 2-3 toe syndactyly, Cutaneous syndactyly, Hypop... |
OMIM:236500 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hypoammonemia, Chorioretinal dysplasia, Aminoaciduria, Hyponatremia, Abnormal dental enamel morph... |
ORPHA:534 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi... |
OMIM:605814 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short long bone, Acetabu... |
OMIM:615503 |
| Dubowitz Syndrome |
|
Short attention span, Inguinal hernia, Sacral dimple, Aplastic anemia, Acute lymphoblastic leukem... |
OMIM:223370 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated hepatic transaminase, Elevated circulating creatinine concentration, Confusion, Hyperbil... |
ORPHA:542323 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:619662 |
| Mohr Syndrome |
|
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Porencephalic cyst, Flared met... |
OMIM:252100 |
| Congenital Disorder Of Glycosylation, Type Iit |
|
Decreased serum creatinine, Decreased HDL cholesterol concentration, Iron deficiency anemia, Hypo... |
OMIM:618885 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Radioulnar synostosis, Abnormal pelvic ... |
ORPHA:1788 |
| Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Finger syndactyly, Toe syndactyly, Short hallux, Cerebellar hypoplasia, Abnormal metacarpal morph... |
ORPHA:3224 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Inguinal hernia, Increased mean platelet volume, Flexion contracture, Optic atrophy, Abnormal hea... |
ORPHA:487796 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Relative macrocephaly, Syndactyly, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplasi... |
OMIM:617895 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micromelia, Microcephaly, Meni... |
ORPHA:1908 |
| Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Glycosuria, Hypokalemi... |
ORPHA:411634 |
| 17Q12 Microduplication Syndrome |
|
Finger syndactyly, Cortical dysplasia, Toe syndactyly |
ORPHA:261272 |
| Acrootoocular Syndrome |
|
Short metacarpal, Small hypothenar eminence, Sandal gap, Decreased palmar creases, Abnormal finge... |
ORPHA:2980 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Ataxia, Cardiomegaly, Unsteady gait, Optic atrophy, Limb ataxia, Gait ataxia, Depression, Cardiom... |
OMIM:619259 |
| Silver-Russell Syndrome Due To A Point Mutation |
|
Relative macrocephaly, Syndactyly, Short 5th finger, Polydactyly, Ectrodactyly, Small placenta, C... |
ORPHA:397590 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... |
ORPHA:3320 |
| Schizophrenia 1 |
|
Syndactyly, Short proximal phalanx of the 4th toe |
OMIM:181510 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Acroosteolysi... |
OMIM:608612 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Finger syndactyly, Microcephaly, Abnormality of the elbow, Hip dislocation, Short middle phalanx ... |
ORPHA:1005 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperlordosis, Inability to wal... |
ORPHA:268 |
| Opsismodysplasia |
|
Short neck, Hypoplasia of the odontoid process, Hypoplastic vertebral bodies, Scoliosis, Hypophos... |
OMIM:258480 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Failure to thrive, Cardiomegaly |
OMIM:614096 |
| Laurence-Moon Syndrome |
|
Finger syndactyly, Brachydactyly, Hand polydactyly, Bilateral single transverse palmar creases |
ORPHA:2377 |
| Verloove Vanhorick-Brubakk Syndrome |
|
Finger syndactyly, Tarsal synostosis, Abnormal femur morphology, Abnormal pelvic girdle bone morp... |
ORPHA:3429 |
| Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Hypoglycemia, Osteomalacia, Bicarbonaturia, Generalized aminoaciduria, Hypophosphat... |
ORPHA:3337 |
| X-Linked Hypophosphatemia |
|
Odontodysplasia, Craniosynostosis, Generalized osteosclerosis, Sacroiliac joint synovitis, Ricket... |
ORPHA:89936 |
| Pelvis-Shoulder Dysplasia |
|
Syndactyly, Camptodactyly of finger, Fifth finger distal phalanx clinodactyly, Mesomelic/rhizomel... |
ORPHA:2839 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperlordosis, In... |
ORPHA:365 |
| Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cachexia, Cardiomegaly, ... |
ORPHA:75565 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Progressive neurologic deterioration, Leukocytosis, Memory impairment, Cognitive impairment, Left... |
ORPHA:90065 |
| Pfeiffer Syndrome |
|
Finger syndactyly, Brachydactyly, Symphalangism affecting the phalanges of the hand, Hip dysplasi... |
ORPHA:710 |
| Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration, Abnormal retinal morphology |
OMIM:219750 |
| Mucolipidosis Ii Alpha/Beta |
|
Osteopenia, Increased serum beta-hexosaminidase, Cardiomegaly, Hepatomegaly, Thoracolumbar kyphos... |
OMIM:252500 |
| Low Phospholipid-Associated Cholelithiasis |
|
Elevated hepatic transaminase, Diabetes mellitus, Liver abscess, Cholangitis, Overweight, Intrahe... |
ORPHA:69663 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Micromelia, Split hand, Intrauterine growth retardation, Brachydactyly |
ORPHA:2145 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hyperlipidemia, Hypoalbuminemia |
ORPHA:567546 |
| X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Branchial cyst, Finger syndactyly, Single transverse palmar crease, Microcephaly, Tapered finger,... |
ORPHA:435938 |
| Tukel Syndrome |
|
Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly |
OMIM:609428 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:617713 |
| Attrv30M Amyloidosis |
|
Cardiomyopathy, Vitreous floaters, Weight loss, Cardiomegaly |
ORPHA:85447 |
| Alkuraya-Kucinskas Syndrome |
|
Overlapping toe, Cutaneous syndactyly, Macrocephaly, Aplasia/Hypoplasia of the corpus callosum, H... |
OMIM:617822 |
| Sickle Cell Disease |
|
Hepatomegaly, Hemolytic anemia, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Jau... |
OMIM:603903 |
| Microphthalmia With Brain And Digit Anomalies |
|
Finger syndactyly, Proximal placement of thumb, Microcephaly, Postaxial foot polydactyly, Inferio... |
ORPHA:139471 |
| Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Hypokalemia, Increased serum prostaglandin E2, Increased circulating renin level, Abnormal magnes... |
OMIM:241150 |
| Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Biparietal narrowing, Abnormal hip bone morphology, I... |
ORPHA:1323 |
| Pmm2-Cdg |
|
Osteopenia, Multiple joint contractures, Hypoalbuminemia, Hepatic fibrosis, Ataxia, Pericardial e... |
ORPHA:79318 |
| Adenine Phosphoribosyltransferase Deficiency |
|
Elevated circulating creatinine concentration |
OMIM:614723 |
| Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... |
OMIM:207750 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Emotional lability, Elevated circulating creatinine concentration, Scoliosis, Increased blood ure... |
OMIM:223900 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Weight loss, Hypochloremia, Fai... |
ORPHA:90794 |
| Senior-Loken Syndrome 1 |
|
Retinal dystrophy, Elevated circulating creatinine concentration, Anemia |
OMIM:266900 |
| Cenani-Lenz Syndactyly Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Broad hallux, Hypoplasia of the radius, Radioulnar synostosis... |
OMIM:212780 |
| Short Stature With Microcephaly And Distinctive Facies |
|
Syndactyly, Short digit, Proximal placement of thumb, Microcephaly, Talipes equinovarus, Hypoplas... |
OMIM:615789 |
| Oliver Syndrome |
|
Camptodactyly of finger, Microcephaly, Short toe, Postaxial hand polydactyly, Elbow flexion contr... |
ORPHA:2920 |
| Isolated Osteopoikilosis |
|
Syndactyly, Abnormal pelvis bone morphology, Abnormal pelvis bone ossification, Abnormal femur mo... |
ORPHA:166119 |
| Eem Syndrome |
|
Finger syndactyly, Ectrodactyly |
ORPHA:1897 |
| Bartsocas-Papas Syndrome |
|
Finger syndactyly, Toe syndactyly, Microcephaly, Absent thumb, Aplasia/Hypoplasia of the distal p... |
ORPHA:1234 |
| Dent Disease |
|
Renal hypophosphatemia, Osteomalacia, Elevated circulating creatine kinase concentration, Delayed... |
ORPHA:1652 |
| Mucopolysaccharidosis Type 3 |
|
Progressive neurologic deterioration, Cardiomegaly, Flexion contracture, Abnormal form of the ver... |
ORPHA:581 |
| Cenani-Lenz Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Elbow dislocation, Short t... |
ORPHA:3258 |
| Glycogen Storage Disease Ii |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Elevated circulating creatine kinase... |
OMIM:232300 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Low back pain, Elevated circulating C-reactive protein concentration, Elevated... |
ORPHA:49041 |
| Pfeiffer Syndrome |
|
Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the fingers, Broad hallux, H... |
OMIM:101600 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Short long bone, Apl... |
ORPHA:2256 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Finger syndactyly, Toe syndactyly, Hand polydactyly, Foot polydactyly, Macrocephaly, Aplasia/Hypo... |
ORPHA:60040 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Ventricular septal defect, Small for gestational age, Cardiomegaly, Short neck, Flexi... |
OMIM:616897 |
| Oligomeganephronia |
|
Small for gestational age, Congenital diaphragmatic hernia, Secundum atrial septal defect, Optic ... |
ORPHA:2260 |
| Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Ataxia, Hypoglycemia, Leukocytosis, Hyperammonemia, Weight loss, Hyperuricemia, Thr... |
ORPHA:134 |
| 6P22 Microdeletion Syndrome |
|
Finger syndactyly, Clinodactyly |
ORPHA:251046 |
| Goldberg-Shprintzen Megacolon Syndrome |
|
Finger syndactyly, Pachygyria, Hypoplasia of the corpus callosum, Microcephaly |
ORPHA:66629 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Polycystic liver disease, Pancreatic cysts, Elevated circulating creatinine concentration, Mitral... |
ORPHA:730 |
| Silver-Russell Syndrome 3 |
|
Clinodactyly of the 5th finger, Syndactyly, Small hand, Relative macrocephaly |
OMIM:616489 |
| Klippel-Trenaunay-Weber Syndrome |
|
Syndactyly, Hand oligodactyly, Macrodactyly, Hand polydactyly |
OMIM:149000 |
| Acrofacial Dysostosis, Catania Type |
|
Finger syndactyly, Brachydactyly, Microcephaly, Small hand, Short palm, Clinodactyly of the 5th f... |
ORPHA:1786 |
| Crane-Heise Syndrome |
|
Finger syndactyly, Toe syndactyly, Hypoplastic scapulae, Aplastic clavicle, Aplasia/Hypoplasia of... |
ORPHA:1512 |
| Joubert Syndrome 17 |
|
Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly |
OMIM:614615 |
| Fucosidosis |
|
Hepatomegaly, Lipoatrophy, Cardiomegaly, Kyphosis, Abnormality of the gallbladder, Anterior beaki... |
ORPHA:349 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Ventricular septal defect, Partial anomalous pulmonary venous return, Elevated circulating creati... |
OMIM:617478 |
| 2Q37 Microdeletion Syndrome |
|
Finger syndactyly, Short metacarpal, Toe syndactyly, Brachydactyly, Microcephaly, Small hand, Mac... |
ORPHA:1001 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Lethargy, Abnormal circulating ceruloplasmin concentration, Abnormal circulating copper concentra... |
OMIM:620306 |
| Orofaciodigital Syndrome Type 6 |
|
Syndactyly, Mesoaxial polydactyly, Cerebellar vermis hypoplasia, Tremor, Central Y-shaped metacar... |
ORPHA:2754 |
| Yellow Fever |
|
Low back pain, Acute pancreatitis, Neutrophilia, Elevated circulating creatine kinase concentrati... |
ORPHA:99829 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Small for gestational age, Short neck, Cardiomegaly, Delayed epiphyseal ossification, Dysplastic ... |
OMIM:613320 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Micromelia, Postaxial ... |
OMIM:614091 |
| Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Exocrine pancreatic... |
OMIM:609812 |
| 2Q31.1 Microdeletion Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Sandal gap, Abnormal morphology of ulna,... |
ORPHA:251014 |
| Familial Atrial Myxoma |
|
Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Jaundice, Cholestasis, Bacterial endocarditis |
ORPHA:615 |
| Adams-Oliver Syndrome 6 |
|
Syndactyly, Foot oligodactyly, Brachydactyly |
OMIM:616589 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Akinesia, Cardiomegaly, Progressive neurologic deterioration, Splenomegaly, Thrombo... |
OMIM:608013 |
| Raine Syndrome |
|
Increased bone mineral density, Short neck, Subperiosteal bone formation, Hypophosphatemia, Arthr... |
OMIM:259775 |
| Neu-Laxova Syndrome 2 |
|
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Spina bifida, Microcephaly, Lissencephaly,... |
OMIM:616038 |
| Danon Disease |
|
Myocardial necrosis, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated ca... |
OMIM:300257 |
| Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Hypercalcemia, Osteoporosis, Weight loss, Hypophosphatemia, Lipoma, Pa... |
ORPHA:143 |
| Microphthalmia With Limb Anomalies |
|
Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of the 5th finge... |
ORPHA:1106 |
| Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Decreased serum creatinine |
ORPHA:289601 |
| Endocrine-Cerebroosteodysplasia |
|
Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Single transverse palma... |
OMIM:612651 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Kyphoscoliosis, Cardiomegaly, Inability to walk, Abnormal atrioventricular valve morphology, Mitr... |
ORPHA:324410 |
| Aarskog-Scott Syndrome |
|
Finger syndactyly, Single transverse palmar crease, Camptodactyly of finger, Small hand, Broad pa... |
ORPHA:915 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Acute hepatic failure, Elevated hepatic transaminase, Hypoglycemia, Progressive neurologic deteri... |
OMIM:615453 |
| Renal Cysts And Diabetes Syndrome |
|
Elevated hepatic transaminase, Diabetes mellitus, Impaired glucose tolerance, Maturity-onset diab... |
OMIM:137920 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity... |
OMIM:615812 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Kyphoscoliosis, Cardiomegaly |
OMIM:300886 |
| Bohring-Opitz Syndrome |
|
Syndactyly, Overlapping toe, Ulnar deviation of the wrist, Tapered finger, Mesomelic/rhizomelic l... |
OMIM:605039 |
| Rubinstein-Taybi Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Abnormal distal phalanx morphology of finger, Microcepha... |
ORPHA:783 |
| Polysyndactyly With Cardiac Malformation |
|
Preaxial hand polydactyly, Syndactyly, Duplication of phalanx of hallux |
OMIM:263630 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal... |
OMIM:306955 |
| Silver-Russell Syndrome 1 |
|
Syndactyly, Short distal phalanx of the 5th finger, Clinodactyly of the 5th finger, Intrauterine ... |
OMIM:180860 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Aplasia of the distal phalanx of the 2nd finger, 2-5 finger syndactyly, Syndactyly, Congenital hi... |
OMIM:308050 |
| Bardet-Biedl Syndrome 6 |
|
Syndactyly, Postaxial polydactyly |
OMIM:605231 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Papilledema, Abnormality of retinal pigmentation, Choroidal neovascularization... |
ORPHA:91500 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertrigly... |
OMIM:256040 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Elevated circulating creatinine concentration, Hyperuricemia, Anemia |
OMIM:174000 |
| Methylcobalamin Deficiency Type Cble |
|
Syndactyly, Microcephaly, Abnormal cerebral white matter morphology, Hypoplasia of the brainstem,... |
ORPHA:2169 |
| Myoclonic-Astatic Epilepsy |
|
Tremor, Syndactyly, Microcephaly |
ORPHA:1942 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Syndactyly, Single transverse palmar crease, Microcephaly, 2-3 toe syndactyly, Coxa vara, Radioul... |
OMIM:614701 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Thrombocytopenia, Macrothrombocytopenia, Anemia |
OMIM:616176 |
| Tarp Syndrome |
|
Cerebellar vermis hypoplasia, Single transverse palmar crease, Rocker bottom foot, Postaxial poly... |
OMIM:311900 |
| 19Q13.11 Microdeletion Syndrome |
|
Finger syndactyly, Toe syndactyly, Congenital hip dislocation, Microcephaly, Toe clinodactyly, Cl... |
ORPHA:217346 |
| Curry-Jones Syndrome |
|
Occipital meningocele, Duplication of thumb phalanx, Megalencephaly, Preaxial hand polydactyly, L... |
OMIM:601707 |
| Kbg Syndrome |
|
Finger clinodactyly, Microcephaly, Single transverse palmar crease, Cutaneous syndactyly |
ORPHA:2332 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulat... |
ORPHA:308552 |
| Epidermolysis Bullosa, Junctional 1B, Severe |
|
Syndactyly |
OMIM:226700 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Pancreatic adenocarcinoma, Hypercalcemia, Osteoporosis, Hypophosphatemia, Lipoma, Pancreatitis, C... |
ORPHA:99880 |
| 19P13.12 Microdeletion Syndrome |
|
Short palm, Finger syndactyly, Sandal gap, Aplasia/Hypoplasia of the cerebellar vermis, Microceph... |
ORPHA:254346 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Syndactyly, Camptodactyly |
OMIM:616006 |
| Cantú Syndrome |
|
Abnormal heart valve morphology, Ovoid vertebral bodies, Cardiomegaly, Short neck, Cuboid-shaped ... |
ORPHA:1517 |
| Hypouricemia, Renal, 1 |
|
Elevated circulating creatinine concentration, Hypouricemia |
OMIM:220150 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Iron deficiency anemia, Failure to thrive |
ORPHA:99931 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Hypophosphatemic rickets, Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
| Bernard-Soulier Syndrome |
|
Decreased platelet glycoprotein Ib-IX-V, Giant platelets, Macrothrombocytopenia, Impaired ristoce... |
ORPHA:274 |
| Rhombencephalosynapsis |
|
Finger syndactyly, Septo-optic dysplasia, Agenesis of cerebellar vermis, Polydactyly, Macrocephal... |
ORPHA:59315 |
| Craniofaciofrontodigital Syndrome |
|
Osteopenia, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Ca... |
ORPHA:363705 |
| Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Bilateral single transverse pa... |
ORPHA:3103 |
| Pfeiffer Syndrome Type 2 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hallux varus, Small hand, ... |
ORPHA:93259 |
| Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Elevated circulating creatinine concentration, Hyperuricemia |
ORPHA:79233 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Ataxia, Confusion, Cardiomegaly, Amyloid deposition in the vitreous humor, Limb ataxia, Cardiomyo... |
OMIM:105210 |
| 46,Xy Sex Reversal 4 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:154230 |
| Aarskog-Scott Syndrome |
|
Hyperextensibility of the finger joints, Syndactyly, Single transverse palmar crease, Broad palm,... |
OMIM:305400 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Syndactyly, Proximal placement of thumb, Microcephaly, Cerebellar hypoplasia, Short palm, Clinoda... |
OMIM:217980 |
| Craniodigital-Intellectual Disability Syndrome |
|
Finger syndactyly, Spina bifida occulta |
ORPHA:1514 |
| Blepharocheilodontic Syndrome 1 |
|
Neural tube defect, Clinodactyly, Cutaneous syndactyly |
OMIM:119580 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Cerebellar vermis hypoplasia, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5... |
OMIM:274000 |
| Costello Syndrome |
|
Keratoconus, Woolly hair, Abnormal hair morphology |
ORPHA:3071 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Hypertyrosinemia, Elevated hepatic transaminase, Failure to thrive, Ataxia, Hypoglycemia, Cholang... |
OMIM:124000 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Ataxia, Macrothrombocytopenia, Aminoaciduria, Neutropenia, Decreased platelet glycoprotein Ib, Th... |
OMIM:603585 |
| Teebi Hypertelorism Syndrome 2 |
|
Clinodactyly of the 5th finger, Syndactyly |
OMIM:619736 |
| Ring Chromosome 12 Syndrome |
|
Syndactyly, Microcephaly, Abnormal 5th finger morphology, Symphalangism of the thumb, Clinodactyly |
ORPHA:1439 |
| Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Congenital hip dislocation, Aplasia/Hypoplasia of the distal phalanges of the ... |
ORPHA:1647 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Scoliosis, Cardiomegaly |
ORPHA:3137 |
| Sandhoff Disease |
|
Hepatomegaly, Ataxia, Cardiomegaly, Progressive psychomotor deterioration, Hepatosplenomegaly, Ch... |
OMIM:268800 |
| Acrocardiofacial Syndrome |
|
Hallux valgus, Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Split hand, Split foot... |
ORPHA:2008 |
| Cryoglobulinemia, Familial Mixed |
|
Elevated circulating creatinine concentration |
OMIM:123550 |
| Alport Syndrome 3A, Autosomal Dominant |
|
Azotemia, Hypophosphatemia |
OMIM:104200 |
| Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Finger syndactyly, Toe syndactyly, Elbow dislocation, Aplasia/Hypoplasia of the phalanges of the ... |
ORPHA:1112 |
| White Forelock With Malformations |
|
Clinodactyly of the 5th finger, Finger syndactyly, Spina bifida occulta |
ORPHA:2475 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Long toe, Overlapping toe, Long fingers, Cutaneous syndactyly, Macrocephaly, Overlapping fingers |
OMIM:618316 |
| Apert Syndrome |
|
Syndactyly, Finger syndactyly, Absent septum pellucidum, Limited elbow movement, Megalencephaly, ... |
OMIM:101200 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Encephalocele, Overlapping toe, Single transverse palmar crease, Tapered finger, Microcephaly, Sh... |
OMIM:619148 |
| Blepharocheilodontic Syndrome 2 |
|
Cutaneous syndactyly |
OMIM:617681 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Finger syndactyly, Overlapping toe, Single transverse palmar crease, Microcephaly, Deviation of t... |
ORPHA:464738 |
| Duane-Radial Ray Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Sandal gap, Short humerus, Abse... |
OMIM:607323 |
| Kury-Isidor Syndrome |
|
Finger syndactyly, Rocker bottom foot, Proximal placement of thumb, Hip dysplasia, Talipes equino... |
OMIM:619762 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia |
OMIM:124900 |
| Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Keratoconus |
ORPHA:542306 |
| Gapo Syndrome |
|
Keratoconus, Alopecia, Sparse eyelashes, Sparse eyebrow, Shallow anterior chamber, Hypoplastic ni... |
OMIM:230740 |
| Igg4-Related Kidney Disease |
|
Pericarditis, Eosinophilia, Elevated circulating C-reactive protein concentration, Retroperitonea... |
ORPHA:449395 |
| 8Q22.1 Microdeletion Syndrome |
|
Finger syndactyly, Sandal gap, Camptodactyly of finger, Microcephaly |
ORPHA:178303 |
| Long Qt Syndrome 8 |
|
Syndactyly |
OMIM:618447 |
| Adams-Oliver Syndrome |
|
Encephalocele, Finger syndactyly, Brachydactyly, Absent toe, Split hand, Porencephalic cyst, Abse... |
ORPHA:974 |
| Gapo Syndrome |
|
Keratoconus, Alopecia, Sparse eyelashes, Sparse eyebrow, Early balding |
ORPHA:2067 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Finger syndactyly, Camptodactyly of finger, Microcephaly, Meningocele, Macrocephaly, Umbilical he... |
ORPHA:2311 |
| Mogs-Cdg |
|
Hepatomegaly, Thoracic scoliosis, Cardiomegaly, Optic atrophy, Hepatosplenomegaly, Atrial septal ... |
ORPHA:79330 |
| Cri-Du-Chat Syndrome |
|
Syndactyly, Short metacarpal, Single transverse palmar crease, Microcephaly, Metatarsus adductus,... |
OMIM:123450 |
| Acromelic Frontonasal Dysostosis |
|
Tubulonodular pericallosal lipoma, Syndactyly, Encephalocele, Optic nerve hypoplasia, Preaxial po... |
OMIM:603671 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Osteopenia, Inguinal hernia, Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly... |
OMIM:245600 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Ventricular septal defect, Camptodactyly of finger, Cardiomegaly, Retroperitoneal f... |
OMIM:602782 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Relative macrocephaly, Hyperextensibility of the finger joints, Syndactyly, Aplasia/Hypoplasia of... |
OMIM:151050 |
| Blepharonasofacial Malformation Syndrome |
|
Finger syndactyly, Torsion dystonia |
ORPHA:1252 |
| Neurooculocardiogenitourinary Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Cardiomegaly |
OMIM:618652 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Syndactyly, Abnormality of the hand, Camptodactyly, Umbilical hernia, Clinodactyly |
ORPHA:369891 |
| Acro-Renal-Ocular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol... |
ORPHA:959 |
| Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Inguinal hernia, Multiple joint contractures, Ataxia, Cardiomegaly, Inability to wa... |
OMIM:618143 |
| Ritscher-Schinzel Syndrome 1 |
|
Syndactyly, Dandy-Walker malformation, Intrauterine growth retardation |
OMIM:220210 |
| Familial Renal Glucosuria |
|
Elevated hemoglobin A1c, Insulin resistance, Glycosuria, Hyperglycemia, Abnormal oral glucose tol... |
ORPHA:69076 |
| Nail-Patella Syndrome |
|
Keratoconus, Cataract, Antecubital pterygium, Microcornea, Microphakia, Lester's sign |
OMIM:161200 |
| Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Syndactyly, Broad hallux, Single transverse palmar crease, Micromelia, Sandal gap, Brachydactyly |
OMIM:614800 |
| Cohen Syndrome |
|
Finger syndactyly, Arachnodactyly, Sandal gap, Tapered finger, Microcephaly, Narrow palm, Slender... |
ORPHA:193 |
| Ogden Syndrome |
|
Bicuspid aortic valve, Maternal diabetes, Cardiomegaly, Secundum atrial septal defect, Microvesic... |
OMIM:300855 |
| Postaxial Acrofacial Dysostosis |
|
Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Hypoplasia of the radius |
ORPHA:246 |
| Beckwith-Wiedemann Syndrome |
|
Omphalocele, Hepatomegaly, Inguinal hernia, Hypoglycemia, Elevated circulating alpha-fetoprotein ... |
ORPHA:116 |
| Lacrimoauriculodentodigital Syndrome |
|
Increased corneal thickness, Keratoconjunctivitis, Keratoconjunctivitis sicca, Limbal stem cell d... |
ORPHA:2363 |
| Cerebrofacioarticular Syndrome |
|
Syndactyly, Cerebellar vermis hypoplasia, Microcephaly, Dysplastic corpus callosum, Talipes equin... |
ORPHA:314679 |
| Alagille Syndrome |
|
Keratoconus, Abnormal pupil morphology, Corneal dystrophy |
ORPHA:52 |
| Aicardi-Goutières Syndrome |
|
Elevated hepatic transaminase, Diabetes mellitus, Multiple joint contractures, Lipoatrophy, Cardi... |
ORPHA:51 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Osteopenia, Eunuchoid habitus, Cardiomegaly, Lumbar hemivertebrae, Loss of truncal subcutaneous a... |
ORPHA:2463 |
| Larsen Syndrome |
|
Finger syndactyly, Accessory carpal bones, Abnormal epiphysis morphology, Broad distal phalanx of... |
ORPHA:503 |
| Opitz-Kaveggia Syndrome |
|
Relative macrocephaly, Syndactyly, Broad hallux, Single transverse palmar crease, Partial agenesi... |
OMIM:305450 |
| Cardiogenic Shock |
|
Elevated circulating creatinine concentration, Confusion |
ORPHA:97292 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Failure to thrive, Hypoketotic hypoglycemia, Dilated cardiomyopathy, Increased circulating free f... |
OMIM:610768 |
| Pancreatic And Cerebellar Agenesis |
|
Reduced subcutaneous adipose tissue, Diabetes mellitus, Hypoglycemia, Optic nerve hypoplasia, Sec... |
OMIM:609069 |
| Blepharo-Cheilo-Odontic Syndrome |
|
Finger syndactyly |
ORPHA:1997 |
| Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... |
ORPHA:3092 |
| Warburg-Cinotti Syndrome |
|
Corneal neovascularization, Limbal stem cell deficiency, Symblepharon, Decreased corneal thickness |
OMIM:618175 |
| Mitchell-Riley Syndrome |
|
Absent gallbladder, Diabetes mellitus, Annular pancreas, Biliary atresia, Cholestasis, Acholic st... |
OMIM:615710 |
| Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Split hand, Hypoplasia of the ra... |
ORPHA:958 |
| Pfeiffer Syndrome Type 3 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hallux varus, Small hand, ... |
ORPHA:93260 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... |
OMIM:115197 |
| Beck-Fahrner Syndrome |
|
Depression, Ventricular septal defect, Attention deficit hyperactivity disorder, Cardiomegaly |
OMIM:618798 |
| Teebi-Shaltout Syndrome |
|
Syndactyly, Ulnar deviation of the hand, Single transverse palmar crease, Rocker bottom foot, Mic... |
OMIM:272950 |
| Oculodentodigital Dysplasia |
|
Finger syndactyly, Toe syndactyly, Cerebral calcification, Camptodactyly of finger, Short hallux,... |
ORPHA:2710 |
| Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Small for gestational age, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ... |
ORPHA:555874 |
| Lethal Congenital Contracture Syndrome 10 |
|
Omphalocele, Thoracic scoliosis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Short... |
OMIM:617022 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Hypophosphatemic rickets, Dilated cardiomyopathy, Cardiomegaly |
OMIM:208000 |
| Williams Syndrome |
|
Osteopenia, Bicuspid aortic valve, Elevated circulating creatine kinase concentration, Cardiomega... |
ORPHA:904 |
| Triploidy |
|
Finger syndactyly, Meningocele, Aplasia/Hypoplasia of the corpus callosum, Macrocephaly, Intraute... |
ORPHA:3376 |
| Microphthalmia, Lenz Type |
|
Finger syndactyly, Camptodactyly of finger, Microcephaly, Aplasia/Hypoplasia of the corpus callos... |
ORPHA:568 |
| Pauci-Immune Glomerulonephritis |
|
Granulomatosis, Elevated circulating creatinine concentration, Pancreatitis |
ORPHA:93126 |
| Hypoglossia-Hypodactyly Syndrome |
|
Finger syndactyly, Brachydactyly, Adactyly, Split hand, Aplasia/Hypoplasia of fingers, Upper limb... |
ORPHA:989 |
| Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... |
ORPHA:1329 |
| Grange Syndrome |
|
Finger clinodactyly, Syndactyly, Brachydactyly |
OMIM:602531 |
| Moebius Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Abnormal morphology of ulna, A... |
ORPHA:570 |
| Kbg Syndrome |
|
Syndactyly, Single transverse palmar crease, Microcephaly, Cutaneous syndactyly, Radial deviation... |
OMIM:148050 |
| Poland Syndrome |
|
Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Abnormal morphology of ulna, A... |
ORPHA:2911 |
| 3C Syndrome |
|
Finger syndactyly, Hand polydactyly, Abnormal hip bone morphology, Macrocephaly, Aplasia/Hypoplas... |
ORPHA:7 |
| Pallister-Hall Syndrome |
|
Syndactyly, Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, Postaxial han... |
OMIM:146510 |
| Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Finger syndactyly, Broad hallux phalanx, Abnormal cortical gyration, Preaxial hand... |
ORPHA:2211 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Syndactyly, Polymicrogyria, Umbilical hernia |
OMIM:614520 |
| Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Pancytopenia, Cardiomegaly, Splenomegaly, Aortic valve ... |
OMIM:231005 |
| Acrofacial Dysostosis, Palagonia Type |
|
Finger syndactyly, Spina bifida occulta, Small hand, Short 4th metacarpal |
ORPHA:1787 |
| Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... |
ORPHA:2041 |
| Fg Syndrome Type 1 |
|
Finger syndactyly, Limited elbow extension and supination, Broad toe, Single transverse palmar cr... |
ORPHA:93932 |
| Bardet-Biedl Syndrome 1 |
|
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Short ... |
OMIM:209900 |
| Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
Optic nerve hypoplasia, 2-3 toe cutaneous syndactyly, 3-4 finger cutaneous syndactyly, Cutaneous ... |
OMIM:620029 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Myelofibrosis, Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules... |
OMIM:187900 |
| X Small Rings |
|
Toe syndactyly, Tapered finger, 2-3 toe syndactyly, Upper limb undergrowth, Cutaneous syndactyly,... |
ORPHA:96201 |
| Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Abnormal finger mor... |
ORPHA:3472 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Finger syndactyly, Arachnodactyly, Long palm, Camptodactyly of finger, Tapered finger, Metatarsus... |
ORPHA:2215 |
| Saethre-Chotzen Syndrome |
|
Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Brachydactyly, Blepharospasm, ... |
ORPHA:794 |
| Choroidal Atrophy-Alopecia Syndrome |
|
Finger syndactyly |
ORPHA:1433 |
| Hereditary Chronic Pancreatitis |
|
Leukocytosis, Elevated circulating C-reactive protein concentration |
ORPHA:676 |
| Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Choroidal neovascularization, Osteomalacia, Failure to thrive in infancy... |
ORPHA:51608 |
| Orofaciodigital Syndrome Type 1 |
|
Finger syndactyly, Tarsal synostosis, Tremor, Preaxial hand polydactyly, Short toe, Postaxial han... |
ORPHA:2750 |
| Neu-Laxova Syndrome 1 |
|
Micromelia, Calcaneovalgus deformity, Agenesis of corpus callosum, Dandy-Walker malformation, Fin... |
OMIM:256520 |
| Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Relative macrocephaly, Syndactyly, Narrow joint spaces of the elbow, Severe intrauterine growth r... |
ORPHA:96182 |
| Hamamy Syndrome |
|
Long toe, Syndactyly, Down-sloping shoulders, Tapered finger, Long fingers, Hip dysplasia, Clinod... |
OMIM:611174 |
| Monosomy 13Q14 |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Microcephaly, Hypoplasia of the corpus callos... |
ORPHA:1587 |
| Pili Torti-Onychodysplasia Syndrome |
|
Palmoplantar keratoderma, Cutaneous syndactyly |
ORPHA:2890 |
| Bohring-Opitz Syndrome |
|
Retinal atrophy, Cardiomegaly, Inability to walk, Optic atrophy, Bilateral wrist flexion contract... |
ORPHA:97297 |
| Orofaciodigital Syndrome I |
|
Syndactyly, Abnormal cortical gyration, Microcephaly, Myelomeningocele, Porencephalic cyst, Cereb... |
OMIM:311200 |
| Acrocallosal Syndrome |
|
Finger syndactyly, Toe syndactyly, Duplication of thumb phalanx, Tapered finger, Bifid distal pha... |
OMIM:200990 |
| Combined Oxidative Phosphorylation Deficiency 25 |
|
Hypoplasia of the pons, Syndactyly, Cerebral atrophy |
OMIM:616430 |
| Arterial Tortuosity Syndrome |
|
Keratoconus, Astigmatism |
OMIM:208050 |
| Prader-Willi Syndrome |
|
Syndactyly, Acromicria, Small hand, Narrow palm, Genu valgum, Short foot, Hip dysplasia, Radial d... |
OMIM:176270 |
| Meckel Syndrome, Type 1 |
|
Syndactyly, Bowing of the long bones, Occipital encephalocele, Camptodactyly of finger, Postaxial... |
OMIM:249000 |
| Autosomal Recessive Robinow Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Bilateral single transverse palmar creas... |
ORPHA:1507 |
| Sclerosteosis 1 |
|
Syndactyly, 2-3 finger syndactyly, Deviation of finger, Abnormal pelvic girdle bone morphology, C... |
OMIM:269500 |
| Tarp Syndrome |
|
Finger syndactyly, Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Hy... |
ORPHA:2886 |
| Meckel Syndrome 14 |
|
Syndactyly, Bowing of the long bones, Occipital encephalocele, Postaxial polydactyly, Postaxial h... |
OMIM:619879 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Syndactyly, Macrocephaly, Mesomelia, Camptodactyly, Clinodactyly, Short phalanx of finger, Broad ... |
OMIM:616894 |
| Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Hypoalbuminemia |
OMIM:614748 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Syndactyly, Arachnodactyly, Rocker bottom foot, Down-sloping shoulders, Patellar aplasia, Hip dis... |
OMIM:265000 |
| Orofaciodigital Syndrome Type 2 |
|
Finger syndactyly, Broad hallux, Short tibia, Adactyly, Broad first metatarsal, Postaxial hand po... |
ORPHA:2751 |
| Adams-Oliver Syndrome 5 |
|
Syndactyly, Umbilical hernia, Brachydactyly |
OMIM:616028 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Congenital diaphragmatic hernia, Biliary atresia, Atrial septal defect, Hyperglycemia, Pancreatic... |
OMIM:600001 |
| Focal Dermal Hypoplasia |
|
Finger syndactyly, Toe syndactyly, Abnormal palmar dermatoglyphics, Camptodactyly of finger, Spin... |
ORPHA:2092 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
Syndactyly, Short metacarpal, Hypoplasia of the corpus callosum, Camptodactyly, Absent palmar crease |
OMIM:614230 |
| Postaxial Acrofacial Dysostosis |
|
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Short thumb, Hypoplasia of the ra... |
OMIM:263750 |
| Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Ventricular septal defect, Hypoglycemia, Cardiomegaly, Optic atrophy, Lethargy, Fai... |
ORPHA:137675 |
| 14Q22Q23 Microdeletion Syndrome |
|
Finger syndactyly, Toe syndactyly, Short foot, Agenesis of corpus callosum, Short palm, Clinodact... |
ORPHA:264200 |
| Apert Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Absent septum pellucidum, Mic... |
ORPHA:87 |
| Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities |
|
Clinodactyly of the 5th finger, Syndactyly, Broad palm |
OMIM:618505 |
| Arterial Tortuosity Syndrome |
|
Keratoconus, Keratoglobus |
ORPHA:3342 |
| Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... |
ORPHA:439 |
| Bloom Syndrome |
|
Syndactyly, Microcephaly, Hand polydactyly, Clinodactyly of the 5th finger, Intrauterine growth r... |
OMIM:210900 |
| Vacterl/Vater Association |
|
Finger syndactyly, Occipital encephalocele, Preaxial hand polydactyly, Anencephaly, Aplasia/Hypop... |
ORPHA:887 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Microcephaly, Symphalangism affecting the phalanges o... |
ORPHA:2990 |
| 8Q21.11 Microdeletion Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Aplasia/Hypoplasia of the corpus callosum, Abnormal m... |
ORPHA:284160 |
| Bartsocas-Papas Syndrome 1 |
|
Syndactyly, Short metacarpal, Hypoplastic scapulae, Absent thumb, Absent radius, Short thumb, Uln... |
OMIM:263650 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Finger syndactyly, Absent septum pellucidum, Aplastic clavicle, Abnormal metacarpal morphology, A... |
ORPHA:2658 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ataxia, Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Cardiomegaly, S... |
OMIM:300967 |
| Mosaic Trisomy 16 |
|
Syndactyly, Single transverse palmar crease, Short thumb, Large placenta, Short femoral neck, Int... |
ORPHA:1708 |
| Neurocardiofaciodigital Syndrome |
|
Syndactyly, Cerebellar vermis hypoplasia, Microcephaly, Polydactyly, Hypoplasia of the corpus cal... |
OMIM:619869 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Syndactyly, Cerebellar vermis hypoplasia, Microcephaly, Hypoplasia of the pons, Hypoplastic anter... |
OMIM:616975 |
| Jacobsen Syndrome |
|
Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Spina bifida, Short toe, Hip dislocation... |
ORPHA:2308 |
| Smith-Lemli-Opitz Syndrome |
|
Finger syndactyly, Rhizomelia, Proximal placement of thumb, Microcephaly, Postaxial hand polydact... |
ORPHA:818 |
| Monosomy 22 |
|
Finger syndactyly, Single transverse palmar crease, Microcephaly, Clubbing, Clinodactyly of the 5... |
ORPHA:96123 |
| Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Cubitus valgus, Syndactyly, Congenital hip dislocation, Umbilical hernia |
OMIM:104350 |
| Trisomy 20P |
|
Finger syndactyly, Camptodactyly of finger, Spina bifida, Preaxial hand polydactyly, Abnormal hip... |
ORPHA:261318 |
| Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
| Yunis-Varon Syndrome |
|
Congenital hip dislocation, Cerebellar vermis hypoplasia, Single transverse palmar crease, Short ... |
OMIM:216340 |
| Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
| Constricting Bands, Congenital |
|
Encephalocele, Syndactyly, Hand polydactyly, Talipes equinovarus |
OMIM:217100 |
| Bardet-Biedl Syndrome |
|
Finger syndactyly, Postaxial hand polydactyly |
ORPHA:110 |
| Mckusick-Kaufman Syndrome |
|
Finger syndactyly, Tarsal synostosis, Postaxial hand polydactyly, Postaxial foot polydactyly, Abn... |
ORPHA:2473 |
| Townes-Brocks Syndrome 1 |
|
2-4 finger syndactyly, Pseudoepiphyses of second metacarpal, 1-2 toe syndactyly, Microcephaly, Pr... |
OMIM:107480 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Neonatal hypoglycemia, Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content,... |
OMIM:261740 |
| Rubinstein-Taybi Syndrome 1 |
|
Single transverse palmar crease, Hypoplastic iliac wing, Prominent fingertip pads, Clinodactyly o... |
OMIM:180849 |
| Faciodigitogenital Syndrome, Autosomal Recessive |
|
Syndactyly, Down-sloping shoulders, Metatarsus adductus, Broad palm, Short foot, Camptodactyly, C... |
OMIM:227330 |
| Autosomal Dominant Popliteal Pterygium Syndrome |
|
Finger syndactyly, Toe syndactyly, Split hand |
ORPHA:1300 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Finger syndactyly, Toe syndactyly, Palmoplantar hyperkeratosis, Bilateral single transverse palma... |
ORPHA:3253 |
| Fanconi Anemia |
|
Finger syndactyly, Hypoplasia of the ulna, Toe syndactyly, Abnormal morphology of ulna, Spina bif... |
ORPHA:84 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Microcornea, Keratoconus |
OMIM:225400 |
| Simpson-Golabi-Behmel Syndrome |
|
Finger syndactyly, Congenital hip dislocation, Toe syndactyly, Camptodactyly of finger, Short 2nd... |
ORPHA:373 |
| Orofaciodigital Syndrome Type 4 |
|
Finger syndactyly, Camptodactyly of finger, Micromelia, Microcephaly, Preaxial hand polydactyly, ... |
ORPHA:2753 |
| Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... |
OMIM:601214 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... |
ORPHA:1457 |
| Adult Syndrome |
|
Finger syndactyly, Toe syndactyly, Split foot |
ORPHA:978 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Inguinal hernia, Bicuspid aortic valve, Cardiomegaly, Abnormality of connective tissue, Scoliosis |
ORPHA:91387 |
| Autosomal Dominant Robinow Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Micromelia, Coxa valga, Elbow dislocation, Avascular ... |
ORPHA:3107 |
| Microphthalmia, Syndromic 6 |
|
Finger syndactyly, Thumb contracture, Toe syndactyly, Single transverse palmar crease, Abnormalit... |
OMIM:607932 |
| Incontinentia Pigmenti |
|
Finger syndactyly, Camptodactyly of finger, Abnormal hand morphology, Absent hand, Deviation of f... |
ORPHA:464 |
| Hartsfield Syndrome |
|
Syndactyly, Agenesis of corpus callosum, Ectrodactyly, Microcephaly |
OMIM:615465 |
| Limb-Mammary Syndrome |
|
Syndactyly, Toe syndactyly, 3-4 finger cutaneous syndactyly, Clinodactyly of the 5th finger, Olig... |
ORPHA:69085 |
| Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Finger syndactyly, Optic nerve hypoplasia, 2-3 toe syndactyly, Talipes equinovarus, Macrocephaly,... |
OMIM:620025 |
| Rapp-Hodgkin Syndrome |
|
Syndactyly, 2-3 toe cutaneous syndactyly, Palmoplantar keratoderma |
OMIM:129400 |
| Saethre-Chotzen Syndrome |
|
Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di... |
OMIM:101400 |
| Lethal Acantholytic Erosive Disorder |
|
Camptodactyly of toe, Cardiomyopathy, Cardiomegaly |
ORPHA:158687 |
| Robinow Syndrome |
|
Syndactyly, Brachydactyly, Bifid distal phalanx of the thumb, Mesomelic arm shortening, Radioulna... |
ORPHA:97360 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Syndactyly, Absent septum pellucidum, Dysplastic corpus callosum, Secondary microcephaly, Macroce... |
OMIM:618820 |
| Peters-Plus Syndrome |
|
Single transverse palmar crease, Limited elbow movement, Proximal placement of thumb, Short metat... |
OMIM:261540 |
| Congenital Tracheomalacia |
|
Failure to thrive, Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous re... |
ORPHA:95430 |
| Beckwith-Wiedemann Syndrome |
|
Omphalocele, Hepatomegaly, Neonatal hypoglycemia, Cardiomegaly, Pancreatic hyperplasia, Cardiomyo... |
OMIM:130650 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Ventricular septal defect, Cardiomega... |
ORPHA:96191 |
| Eec Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Proximal placement of thumb, ... |
ORPHA:1896 |
| Cutis Marmorata Telangiectatica Congenita |
|
Finger syndactyly, Toe syndactyly, Abnormality of the upper limb, Intrauterine growth retardation... |
ORPHA:1556 |
| Double Outlet Left Ventricle |
|
Double outlet left ventricle, Failure to thrive, Ventricular septal defect, Cardiomegaly, Bicuspi... |
ORPHA:3427 |
| Mckusick-Kaufman Syndrome |
|
Syndactyly, Postaxial hand polydactyly, Congenital hip dislocation, Mesoaxial hand polydactyly |
OMIM:236700 |
| Cranioectodermal Dysplasia 2 |
|
Syndactyly, Rhizomelia, Postaxial hand polydactyly, Macrocephaly, Polydactyly, Mesomelia, Clinoda... |
OMIM:613610 |
| Vater/Vacterl Association |
|
Syndactyly, Occipital encephalocele, Spina bifida, Absent radius, Short thumb, Hypoplasia of the ... |
OMIM:192350 |
| Roberts-Sc Phocomelia Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi... |
OMIM:268300 |
| Autosomal Recessive Faciodigitogenital Syndrome |
|
Finger syndactyly, Down-sloping shoulders, Short foot, Clinodactyly of the 5th finger, Brachydactyly |
ORPHA:1974 |
| Truncus Arteriosus |
|
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... |
ORPHA:3384 |
| Degcags Syndrome |
|
Syndactyly, Toe syndactyly, Microcephaly, Short thumb, Preaxial hand polydactyly, Genu valgum, Po... |
OMIM:619488 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Abnormality of the hepatic vasculature... |
ORPHA:1677 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Syndactyly, Broad hallux, Deviation of the hallux, Avascular necrosis of the capital femoral epip... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Syndactyly, Broad hallux, Deviation of the hallux, Avascular necrosis of the capital femoral epip... |
ORPHA:353277 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Dystonia, Sandal gap, Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Microcephaly, Long fi... |
OMIM:620330 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Syndactyly, Unilateral brachydactyly, Aplasia/Hypoplasia involving the shoulder musculature |
ORPHA:1521 |
| Absence Of The Pulmonary Artery |
|
Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... |
ORPHA:980 |
| Fontaine Progeroid Syndrome |
|
Syndactyly, Cerebellar vermis hypoplasia, Microcephaly, Deep palmar crease, Absent distal phalang... |
OMIM:612289 |
| Doors Syndrome |
|
Aplasia/Hypoplasia of the phalanges of the 2nd toe, Microcephaly, Abnormal toe morphology, Abnorm... |
ORPHA:79500 |
| Singleton-Merten Syndrome 1 |
|
Waddling gait, Osteopenia, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, ... |
OMIM:182250 |
| Hereditary Acrokeratotic Poikiloderma |
|
Finger syndactyly, Camptodactyly of finger, Palmoplantar hyperkeratosis, Abnormal hip bone morpho... |
ORPHA:2907 |
| Trichorhinophalangeal Syndrome, Type Ii |
|
Syndactyly, Short metacarpal, Scapular winging, Single transverse palmar crease, Coxa valga, Avas... |
OMIM:150230 |
| Loeys-Dietz Syndrome 2 |
|
Syndactyly, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Absent distal phalanges, ... |
OMIM:610168 |
| Fraser Syndrome 3 |
|
Short toe, Cutaneous syndactyly |
OMIM:617667 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Finger syndactyly, Genu varum |
ORPHA:1969 |
| Scalp-Ear-Nipple Syndrome |
|
Finger syndactyly, 3-4 finger cutaneous syndactyly, 2-3 toe syndactyly, Clinodactyly of the 5th f... |
OMIM:181270 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Cerebellar vermis hypoplasia, Calcaneovalgus deformity, Large basal ganglia, Agenesis of corpus c... |
ORPHA:261537 |
| Coffin-Siris Syndrome 12 |
|
Microcephaly, Short thumb, Slender finger, Cutaneous syndactyly, Radioulnar synostosis, Broad thu... |
OMIM:619325 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... |
ORPHA:99125 |
| Specc1L-Related Hypertelorism Syndrome |
|
Finger syndactyly, Short toe, Clinodactyly of the 5th finger, Umbilical hernia, Brachydactyly |
ORPHA:1519 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Cerebellar vermis hypoplasia, Calcaneovalgus deformity, Large basal ganglia, Agenesis of corpus c... |
ORPHA:261552 |
| Proteus Syndrome |
|
Hallux valgus, Finger syndactyly, Macrodactyly, Metatarsus valgus, Hip dislocation, Abnormal fing... |
ORPHA:744 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Palmoplantar keratoderma |
ORPHA:1071 |
| Kindler Epidermolysis Bullosa |
|
Finger syndactyly, Camptodactyly of finger, Palmoplantar keratoderma, Short 4th metacarpal, Short... |
ORPHA:2908 |
| Hennekam Syndrome |
|
Finger syndactyly, Pachygyria, Camptodactyly of finger |
ORPHA:2136 |
| Mowat-Wilson Syndrome |
|
Hallux valgus, Syndactyly, Long toe, Ulnar deviation of the hand, Broad hallux, Agenesis of cereb... |
ORPHA:2152 |
| Hypermobile Ehlers-Danlos Syndrome |
|
Keratoconus, Keratoconjunctivitis sicca |
ORPHA:285 |
| Fraser Syndrome |
|
Encephalocele, Finger syndactyly, Toe syndactyly, Microcephaly, Myelomeningocele, Umbilical herni... |
ORPHA:2052 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Keratoconus, Alopecia of scalp |
OMIM:130050 |
| Vascular Ehlers-Danlos Syndrome |
|
Keratoconus, Alopecia, Abnormality of hair texture, Abnormal eyelash morphology, Abnormal pupil m... |
ORPHA:286 |
| Fraser Syndrome 2 |
|
Cutaneous syndactyly |
OMIM:617666 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
| Microphthalmia, Syndromic 1 |
|
Syndactyly, Abnormal palmar dermatoglyphics, Down-sloping shoulders, Microcephaly, Short clavicle... |
OMIM:309800 |
