Patent Ductus Arteriosus 2 |
|
Clinodactyly of the 5th finger, Patent ductus arteriosus |
OMIM:617035 |
Polydactyly, Postaxial, Type A10 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Postaxial polydactyly type A |
OMIM:618498 |
Syndactyly, Type Iv |
|
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... |
OMIM:186200 |
Polydactyly, Preaxial Ii |
|
Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... |
OMIM:174500 |
Polydactyly, Postaxial, Type A1 |
|
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... |
OMIM:174200 |
Polydactyly, Postaxial, Type A9 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly |
OMIM:618219 |
Triphalangeal Thumb, Nonopposable |
|
Polydactyly, Triphalangeal thumb |
OMIM:190600 |
Triphalangeal Thumb With Polysyndactyly |
|
Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br... |
OMIM:190605 |
Syndactyly Type 2 |
|
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... |
ORPHA:93403 |
Synpolydactyly 1 |
|
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... |
OMIM:186000 |
Patent Ductus Arteriosus 3 |
|
Patent ductus arteriosus |
OMIM:617039 |
Oliver Syndrome |
|
Postaxial hand polydactyly |
OMIM:258200 |
Patent Ductus Arteriosus 1 |
|
Patent ductus arteriosus |
OMIM:607411 |
Polydactyly, Postaxial, Type A2 |
|
Postaxial hand polydactyly |
OMIM:602085 |
Corneal Dystrophy, Endothelial, X-Linked |
|
Corneal opacity, Corneal dystrophy, Band keratopathy |
OMIM:300779 |
Granular Corneal Dystrophy Type Ii |
|
Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,... |
ORPHA:98963 |
Macular Dystrophy, Corneal |
|
Punctate opacification of the cornea, Macular dystrophy, Corneal dystrophy, Recurrent corneal ero... |
OMIM:217800 |
Central Cloudy Dystrophy Of Francois |
|
Central corneal dystrophy, Corneal dystrophy |
OMIM:217600 |
Schnyder Corneal Dystrophy |
|
Corneal dystrophy, Crystalline corneal dystrophy |
OMIM:121800 |
Brachydactyly, Type C |
|
Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco... |
OMIM:113100 |
Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
Keratitis, Hereditary |
|
Keratitis, Opacification of the corneal stroma |
OMIM:148190 |
Dandy-Walker Malformation-Postaxial Polydactyly Syndrome |
|
Postaxial hand polydactyly |
ORPHA:1566 |
Granular Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of... |
ORPHA:98962 |
Macular Corneal Dystrophy |
|
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... |
ORPHA:98969 |
Polydactyly, Preaxial Iv |
|
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... |
OMIM:174700 |
Polydactyly, Postaxial, Type A5 |
|
Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis |
OMIM:263450 |
Polydactyly, Preaxial I |
|
Preaxial hand polydactyly, Partial duplication of thumb phalanx, Radial deviation of thumb termin... |
OMIM:174400 |
Polycystic Kidney Disease 7 |
|
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... |
OMIM:620056 |
Pseudohypoparathyroidism, Type Ib |
|
Short metacarpal, Pseudohypoparathyroidism, Hyperphosphatemia, Elevated circulating parathyroid h... |
OMIM:603233 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hypoparathyroidism, Decreased circulating parathyroid hormone level, Nephrocalcinosis, Chvostek s... |
OMIM:146200 |
Santos Syndrome |
|
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... |
OMIM:613005 |
Hypocalcemia, Autosomal Dominant 1 |
|
Short stature, Decreased circulating parathyroid hormone level, Hypercalciuria, Nephrolithiasis, ... |
OMIM:601198 |
Renal Dysplasia, Cystic, Susceptibility To |
|
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... |
OMIM:601331 |
Polydactyly, Postaxial, Type A8 |
|
Postaxial polydactyly, Genu valgum |
OMIM:618123 |
Thiel-Behnke Corneal Dystrophy |
|
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio... |
ORPHA:98960 |
Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet |
|
Posterior corneal stroma punctiform multicolored opacities |
OMIM:619871 |
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha... |
OMIM:618167 |
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Pseudocoarctation of the aorta, Abnormal hand morphology, Patent ductus arteriosus, Clinodactyly ... |
ORPHA:228190 |
Pseudohypoparathyroidism Type 2 |
|
Calcinosis, Pseudohypoparathyroidism, Hyperphosphatemia, Elevated circulating parathyroid hormone... |
ORPHA:94090 |
Scalp Defects And Postaxial Polydactyly |
|
Postaxial polydactyly type A |
OMIM:181250 |
Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
Cystinosis, Adult Nonnephropathic |
|
Abnormal retinal morphology, Corneal crystals |
OMIM:219750 |
Polydactyly, Preaxial Iii |
|
Preaxial polydactyly, Triphalangeal thumb |
OMIM:174600 |
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Pseudocoarctation of the aorta, Short toe, Patent ductus arteriosus, Short finger, Clinodactyly o... |
OMIM:604381 |
Hallux Varus And Preaxial Polysyndactyly |
|
Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus |
OMIM:234280 |
Cayler Cardiofacial Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot |
OMIM:125520 |
Leber Hereditary Optic Neuropathy, Modifier Of |
|
Optic atrophy, Leber optic atrophy |
OMIM:308905 |
Cardiomyopathy, Dilated, 1Ff |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:613286 |
Spinocerebellar Degeneration And Corneal Dystrophy |
|
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:271310 |
Familial Pterygium Of The Conjunctiva |
|
Opacification of the corneal stroma |
ORPHA:2989 |
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias |
|
Short thumb, Postaxial hand polydactyly, Short 5th finger, Short 2nd toe |
OMIM:176305 |
Ectrodactyly-Polydactyly Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t... |
ORPHA:1892 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal insufficiency, Short stature, Hypercalciuria, Hypophosphatemia, Nephrocalcinosis, Focal seg... |
OMIM:308990 |
Polydactyly, Postaxial, Type A7 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Short fifth metatarsal, 2-3 toe cutaneous... |
OMIM:617642 |
Corneal Dystrophy And Perceptive Deafness |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:217400 |
Iris Pigment Epithelium Anomalies |
|
Iris cyst |
OMIM:601616 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Syndactyly, Abnormal lung morphology, Upper limb phocomelia, Stillbirth, Congenital malformation ... |
ORPHA:294975 |
RCAD (renal cysts and diabetes) |
|
Multiple renal cysts |
DECIPHER:47 |
Pseudopseudohypoparathyroidism |
|
Short stature, Short distal phalanx of the 3rd finger, Abnormality of the endocrine system, Short... |
ORPHA:79445 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Short stature, Polyuria, Ataxia, Renal salt wasting, Enuresis, Hypokalemia, Hyperaldosteronism, H... |
OMIM:612780 |
Congenital Radioulnar Synostosis |
|
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... |
ORPHA:3269 |
Keratoendotheliitis Fugax Hereditaria |
|
Keratitis, Conjunctival hyperemia, Epiretinal membrane, Opacification of the corneal stroma |
OMIM:148200 |
Jawad Syndrome |
|
Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, 4-5 toe synd... |
OMIM:251255 |
Nephronophthisis 20 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... |
OMIM:617271 |
Megalocornea |
|
Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris... |
OMIM:309300 |
Episodic Ataxia, Type 1 |
|
Incoordination, Elevated circulating creatine kinase concentration, Abnormality of the hand, Trem... |
OMIM:160120 |
Microphthalmia, Isolated 2 |
|
Opacification of the corneal stroma |
OMIM:610093 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
Blue Diaper Syndrome |
|
Hypercalcemia, Elevated circulating thyroid-stimulating hormone concentration, Nephrocalcinosis, ... |
ORPHA:94086 |
Pseudohypoparathyroidism, Type Ic |
|
Short metacarpal, Short stature, Elevated circulating thyroid-stimulating hormone concentration, ... |
OMIM:612462 |
Ocular Cystinosis |
|
Corneal crystals |
ORPHA:411641 |
Hypomagnesemia 2, Renal |
|
Renal insufficiency, Renal magnesium wasting, Hypokalemia, Hypocalciuria, Hypomagnesemia |
OMIM:154020 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Parathyroid agenesis, Hypercalciuria, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Congenital... |
ORPHA:2239 |
Hypocalcemia, Autosomal Dominant 2 |
|
Postnatal growth retardation, Abnormal blood phosphate concentration, Hypocalcemia |
OMIM:615361 |
Ectrodactyly-Polydactyly |
|
Split hand, Postaxial hand polydactyly, Split foot |
OMIM:225290 |
Camptosynpolydactyly, Complex |
|
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly |
OMIM:607539 |
Retinitis Pigmentosa 42 |
|
Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Peripapillary atrophy, Cystoid macu... |
OMIM:612943 |
Cardiac Lipidosis, Familial |
|
Death in infancy, Congestive heart failure, Cardiomyopathy |
OMIM:212080 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Cataract, Optic atrophy |
ORPHA:2253 |
Peters Anomaly |
|
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... |
ORPHA:708 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Renal insufficiency, Hypercalcemia, Parathormone-independent increased renal tubular calcium reab... |
OMIM:600740 |
Hanac Syndrome |
|
Hematuria, Renal insufficiency, Multiple renal cysts |
ORPHA:73229 |
Polydactyly, Postaxial, With Progressive Myopia |
|
Postaxial hand polydactyly |
OMIM:174310 |
Interstitial Nephritis, Karyomegalic |
|
Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k... |
OMIM:614817 |
Hypercalcemia, Infantile, 2 |
|
Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Hypophosphate... |
OMIM:616963 |
Glaucoma 3, Primary Congenital, E |
|
Corneal stromal edema, Megalocornea, Increased cup-to-disc ratio |
OMIM:617272 |
Renal Failure, Progressive, With Hypertension |
|
Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ... |
OMIM:161900 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hyperparathyroidism, Hypercalcemia, Hypermagnesemia, Hypercalciuria, Nephrolithiasis, Hypocalciur... |
OMIM:145980 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Retinal pigment epithelial mottling, Retinopathy, Corneal crystals |
OMIM:219900 |
Bartter Syndrome, Type 3 |
|
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... |
OMIM:607364 |
Bietti Crystalline Corneoretinal Dystrophy |
|
Marginal corneal dystrophy, Chorioretinal atrophy, Retinal degeneration, Corneal crystals |
OMIM:210370 |
Hyperphenylalaninemia, Bh4-Deficient, D |
|
Tremor, Elevated urinary 7-biopterin level, Hypertonia, Transient hyperphenylalaninemia, Hyperphe... |
OMIM:264070 |
Dent Disease 2 |
|
Short stature, Elevated circulating creatine kinase concentration, Chronic kidney disease, Hyperc... |
OMIM:300555 |
Pseudohypoparathyroidism, Type Ia |
|
Short metacarpal, Short stature, Short toe, Short metatarsal, Pseudohypoparathyroidism, Hyperphos... |
OMIM:103580 |
Vitamin D-Dependent Rickets, Type 3 |
|
Bowing of the legs, Flared metaphysis, Growth delay, Elevated circulating parathyroid hormone lev... |
OMIM:619073 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Decreased circulating parathyroid hormone level, Hyperphosphatemia, Hypocalcemia, Hypocalcemic se... |
OMIM:618883 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypercalcemia, Parathormone-independent increased renal tubular calcium reabsorption, Primary hyp... |
OMIM:145981 |
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly |
|
Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Broad palm, Short foot, Mesomelia, Brac... |
OMIM:611263 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Corneal arcus, Cataract |
OMIM:618463 |
Retinal Dystrophy And Iris Coloboma With Or Without Cataract |
|
Retinal atrophy, Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract |
OMIM:616722 |
Idiopathic Hypercalciuria |
|
Parathormone-independent increased renal tubular calcium reabsorption, Calcium oxalate nephrolith... |
ORPHA:2197 |
Cardiomyopathy, Dilated, 1M |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:607482 |
Corneal Endothelial Dystrophy |
|
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... |
OMIM:217700 |
Autoimmune Hypoparathyroidism |
|
Calcium nephrolithiasis, Autoimmune hypoparathyroidism, Hyperphosphatemia, Hypocalcemia, Myocloni... |
ORPHA:36913 |
Cardiomyopathy, Dilated, 1B |
|
Vascular dilatation, Congestive heart failure, Dilated cardiomyopathy, Impaired myocardial contra... |
OMIM:600884 |
Renal Hypodysplasia/Aplasia 3 |
|
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... |
OMIM:617805 |
Cardiomyopathy, Dilated, 1L |
|
Increased left ventricular end-diastolic volume, Reduced systolic function, Sudden cardiac death,... |
OMIM:606685 |
Conotruncal Heart Malformations |
|
Broad hallux, Postaxial polydactyly, Double outlet right ventricle, Coarctation of aorta, Transpo... |
OMIM:217095 |
Optic Atrophy 3, Autosomal Dominant |
|
Optic disc pallor, Cataract, Optic atrophy |
OMIM:165300 |
Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... |
OMIM:617315 |
Pupillary Membrane, Persistence Of |
|
Developmental cataract, Megalocornea, Persistent pupillary membrane |
OMIM:178900 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Epiphyseal dysplasia, Metaphyseal dysplasia, Hypospadias, Hypercalcemia, Decreased response to gr... |
OMIM:614732 |
Cardiomyopathy, Dilated, 1Ee |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Increased left ventricular ... |
OMIM:613252 |
Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Short stature, Cortical subperiosteal resorption of humeral metaphyses, Decreased res... |
ORPHA:94089 |
Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... |
OMIM:617319 |
Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Renal cyst |
OMIM:615987 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Increased circulating osteocalcin level, Hyperphosphaturia, Short stature, Decreased circulating ... |
ORPHA:157215 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Reduced renal corticomedullary diffe... |
OMIM:617610 |
Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Elevated circulating parathyroid hormone level, Hypocalcemia, Pseudohypoparath... |
OMIM:203330 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Elevated circulating creatine kinase concentration, Rigidity, Hyperkalemia, Hyperphosphatemia, My... |
OMIM:145600 |
Syndactyly-Polydactyly-Earlobe Syndrome |
|
Broad toe, Preaxial hand polydactyly, 1-2 toe complete cutaneous syndactyly, Preaxial foot polyda... |
OMIM:186350 |
2P21 Microdeletion Syndrome |
|
Nephrolithiasis, Cystinuria, Growth delay, Hypogonadism, Hypocalcemia |
ORPHA:163693 |
Familial Isolated Hyperparathyroidism |
|
Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Primary hyperparathyroidism, Hypercalciuri... |
ORPHA:99879 |
Gitelman Syndrome |
|
Ataxia, Polyuria, Paralysis, Renal magnesium wasting, Growth delay, Enuresis, Hypokalemia, Hypoca... |
OMIM:263800 |
Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... |
ORPHA:93405 |
Helix Syndrome |
|
Renal insufficiency, Hyperparathyroidism, Polyuria, Hypermagnesemia, Nephrolithiasis, Hypokalemia... |
OMIM:617671 |
Dent Disease 1 |
|
Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Nephrocalcinosis, Tibial bow... |
OMIM:300009 |
Microphthalmia, Isolated 4 |
|
Postaxial polydactyly |
OMIM:613094 |
Distal Duplication 14Q |
|
Patent ductus arteriosus, Abnormal aortic morphology, Abnormal lung lobation |
ORPHA:1705 |
Postaxial Oligodactyly, Tetramelic |
|
Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat... |
OMIM:176240 |
Cardiomyopathy, Dilated, 1Dd |
|
Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c... |
OMIM:613172 |
Corneal Dystrophy, Meesmann, 1 |
|
Punctate opacification of the cornea, Corneal dystrophy |
OMIM:122100 |
Lattice Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... |
ORPHA:98964 |
Hypercalcemia, Infantile, 1 |
|
Polyuria, Hypercalcemia, Decreased circulating parathyroid hormone level, Nephrolithiasis, Hyperc... |
OMIM:143880 |
Genetic Recurrent Myoglobinuria |
|
Dark urine, Proximal muscle weakness in upper limbs, Renal insufficiency, Recurrent myoglobinuria... |
ORPHA:99845 |
Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypop... |
OMIM:604229 |
Pulmonary Atresia-Intact Ventricular Septum Syndrome |
|
Pulmonary artery atresia, Patent ductus arteriosus |
ORPHA:1208 |
Glaucoma, Primary Closed-Angle |
|
Anterior synechiae of the anterior chamber, Increased cup-to-disc ratio |
OMIM:618880 |
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome |
|
Bowing of the long bones, Coarse metaphyseal trabecularization, Patent ductus arteriosus, Epiphys... |
ORPHA:1952 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... |
OMIM:122000 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hy... |
ORPHA:2334 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Renal insufficiency, Bulging epiphyses, Short stature, Bowing of the legs, Delayed epiphyseal oss... |
OMIM:300554 |
Familial Hypocalciuric Hypercalcemia |
|
Hypomagnesiuria, Renal hypophosphatemia, Hypercalcemia, Parathormone-independent increased renal ... |
ORPHA:405 |
Preaxial Hallucal Polydactyly |
|
Preaxial hand polydactyly, Preaxial foot polydactyly |
OMIM:601759 |
Iridocorneal Endothelial Syndrome |
|
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... |
ORPHA:64734 |
Renal Tubular Acidosis, Distal, 1 |
|
Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N... |
OMIM:179800 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Decreased response to growth hormone stimulation test, Decreased circulating parathyroid hormone ... |
OMIM:241410 |
Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
Valinemia |
|
Hypervalinemia, Valinuria, Hyperkinetic movements |
OMIM:277100 |
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features |
|
Hypoplasia of the fovea, Iris cyst, Optic atrophy |
OMIM:620086 |
Cardiomyopathy, Dilated, 1P |
|
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia |
OMIM:609909 |
Bardet-Biedl Syndrome 7 |
|
Clinodactyly, Polydactyly, 2-3 toe syndactyly, Postaxial polydactyly |
OMIM:615984 |
Autosomal Dominant Hypocalcemia |
|
Writer's cramp, Hypercalciuria, Dry skin, Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypo... |
ORPHA:428 |
Pseudohypoparathyroidism Type 1C |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:79444 |
Fanconi Renotubular Syndrome 2 |
|
Renal insufficiency, Proteinuria, Short stature, Generalized aminoaciduria, Hypercalciuria, Hypop... |
OMIM:613388 |
Amoebic Keratitis |
|
Iris atrophy, Anterior uveitis, Cataract, Abnormal posterior eye segment morphology, Abnormal cor... |
ORPHA:67043 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Psoriasiform lesion, Hypercalcemia, Exercise-induced myoglobinuria, Chronic kidney disease, Scali... |
ORPHA:284426 |
Retinitis Pigmentosa 36 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:610599 |
Calciphylaxis |
|
Hyperphosphatemia, Secondary hyperparathyroidism, Stage 5 chronic kidney disease, Skin ulcer |
ORPHA:280062 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Preaxial foot polydactyly, Postaxial hand polydactyly, Triphalangeal thumb |
ORPHA:2091 |
Megabladder, Congenital |
|
Multiple glomerular cysts, Left ventricular noncompaction cardiomyopathy, Patent ductus arteriosu... |
OMIM:618719 |
Hereditary Renal Hypouricemia |
|
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Increased blood... |
ORPHA:94088 |
Corneal Dystrophy, Reis-Bucklers Type |
|
Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:608470 |
Phosphoserine Phosphatase Deficiency |
|
Postnatal growth retardation, Intrauterine growth retardation, Hypertonia, Hyposerinemia |
OMIM:614023 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Calcium nephrolithiasis, Bulging epiphyses, Decreased circulating parathyroid hormone level, Bowi... |
OMIM:241530 |
Cardiomyopathy, Dilated, 1Hh |
|
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy |
OMIM:613881 |
Leber Congenital Amaurosis 13 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... |
OMIM:612712 |
Auditory Neuropathy And Optic Atrophy |
|
Rod-cone dystrophy, Optic atrophy |
OMIM:617717 |
Nephronophthisis 16 |
|
Renal insufficiency, Patent ductus arteriosus, Stage 5 chronic kidney disease, Aortic valve steno... |
OMIM:615382 |
Granulomatous Slack Skin |
|
Redundant skin, Hypercalcemia, Erythema, Cutis laxa, Nephrocalcinosis, Acute kidney injury |
ORPHA:33111 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Neonatal death, Bilateral lung agenesis, Patent ductus arteriosus, Coarctation of aorta |
OMIM:601612 |
Cardiomyopathy, Dilated, 1J |
|
Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy, Sudden card... |
OMIM:605362 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mild postnatal growth retardation, Neonatal epiphyseal stippling, Short metatarsal, Elevated circ... |
OMIM:101800 |
Long Qt Syndrome 13 |
|
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... |
OMIM:613485 |
Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Hammertoe, Elevated circulating creatine kinase concentration, Fasciculations |
OMIM:615048 |
Norrie Disease |
|
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,... |
OMIM:310600 |
Fuchs Heterochromic Iridocyclitis |
|
Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Reti... |
ORPHA:263479 |
Cataract 21, Multiple Types |
|
Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac... |
OMIM:610202 |
Acropectoral Syndrome |
|
Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb |
OMIM:605967 |
Bardet-Biedl Syndrome 16 |
|
Renal insufficiency, Renal agenesis, Short stature, Stage 5 chronic kidney disease, Renal cyst, P... |
OMIM:615993 |
Stuve-Wiedemann Syndrome 2 |
|
Bowing of the long bones, Congestive heart failure, Death in adolescence, Short long bone, Stillb... |
OMIM:619751 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Postnatal growth retardation, Small hand, Sho... |
ORPHA:93324 |
Juvenile Nephropathic Cystinosis |
|
Abnormal long bone morphology, Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular... |
ORPHA:411634 |
Wagner Vitreoretinopathy |
|
Cataract, Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioreti... |
OMIM:143200 |
Crossed Polysyndactyly |
|
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyly |
ORPHA:2935 |
Pseudohypoparathyroidism Type 1A |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:79443 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Short stature, Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst,... |
OMIM:617056 |
Rutherfurd Syndrome |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:180900 |
X-Linked Hypophosphatemia |
|
Shortening of the talar neck, Bowing of the long bones, Bowing of the legs, Sacroiliac joint syno... |
ORPHA:89936 |
Optic Atrophy 9 |
|
Optic disc pallor, Optic atrophy |
OMIM:616289 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Patent ductus arteriosus, Hand polydactyly, Abnormal 3rd finger morphology |
OMIM:249670 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Death in infancy, Congestive heart failure, Reduced left ventricular ejection fraction, Pulmonary... |
OMIM:614096 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... |
ORPHA:567544 |
Optic Atrophy--Spastic Paraplegia Syndrome |
|
Optic atrophy |
OMIM:311100 |
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Postaxial polydactyly |
OMIM:213010 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Increased urine deoxypyridinoline level, Short humerus, Bowing of the long bones, Short stature, ... |
OMIM:239000 |
Aniridia 2 |
|
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma |
OMIM:617141 |
Intermediate Uveitis |
|
Anterior uveitis, Cataract, Vitreous haze, Band keratopathy, Epiretinal membrane, Vitreous floate... |
ORPHA:279914 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Short stature, Bowing of the legs, Abnormal circulating calcium con... |
OMIM:307800 |
Fish-Eye Disease |
|
Opacification of the corneal stroma |
OMIM:136120 |
Preeclampsia |
|
Proteinuria, Abnormality of the kidney, Chronic kidney disease, Elevated circulating creatinine c... |
ORPHA:275555 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff |
|
Patent ductus arteriosus, Weak grip, Distal upper limb muscle weakness, Distal upper limb amyotro... |
OMIM:619519 |
Familial Isolated Hypoparathyroidism |
|
Hypoparathyroidism, Short stature, Abnormal circulating calcium-phosphate regulating hormone conc... |
ORPHA:2238 |
Sandhoff Disease, Adult Form |
|
Elevated circulating creatine kinase concentration, Tremor, Focal dystonia, Gait ataxia, Fascicul... |
ORPHA:309169 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Hyperparathyroidism, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Renal tubular acidosis |
OMIM:239199 |
Dent Disease |
|
Enlarged epiphyses, Elevated circulating creatine kinase concentration, Bowing of the legs, Delay... |
ORPHA:1652 |
Synpolydactyly 2 |
|
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... |
OMIM:608180 |
Cardiomyopathy, Dilated, 1I |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Red... |
OMIM:604765 |
Cardiomyopathy, Dilated, 1Z |
|
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death |
OMIM:611879 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... |
OMIM:310468 |
Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Neonatal death, Congestive heart failure |
OMIM:301021 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Diabetes mellitus, Proteinuria, Polyuria, Renal salt wasting, Chronic kidney diseas... |
OMIM:613845 |
Cardiomyopathy, Dilated, 1U |
|
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... |
OMIM:613694 |
Hypomagnesemia 3, Renal |
|
Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki... |
OMIM:248250 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Polyuria, Nephrocalcinosis, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
Orofaciodigital Syndrome Xviii |
|
Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Preaxial polydactyly, Genu va... |
OMIM:617927 |
Cardiomyopathy, Dilated, 2A |
|
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy |
OMIM:611880 |
Saccharopinuria |
|
Citrullinuria, Short stature, Tremor, Hypercystinemia, Hyperammonemia, Cystinuria, Spastic dipleg... |
ORPHA:3124 |
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness |
|
Optic atrophy |
OMIM:136600 |
Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:1490 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... |
OMIM:613251 |
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome |
|
Aplasia/Hypoplasia of the phalanges of the 3rd toe, Mesoaxial foot polydactyly, 1-2 toe syndactyl... |
ORPHA:488232 |
Dahlberg-Borer-Newcomer Syndrome |
|
Hypoparathyroidism, Renal insufficiency, Short stature, Hypocalcemia, Nephropathy, Hypothyroidism... |
ORPHA:1563 |
Aphalangy-Syndactyly-Microcephaly Syndrome |
|
Toe syndactyly, Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, ... |
ORPHA:1113 |
Grange Syndrome |
|
Syndactyly, Patent ductus arteriosus, Arterial stenosis, Short palm |
ORPHA:79094 |
Sensorineural Deafness With Dilated Cardiomyopathy |
|
Congestive heart failure, Abnormal cardiac ventricular function, Dilated cardiomyopathy |
ORPHA:217622 |
Optic Atrophy 13 With Retinal And Foveal Abnormalities |
|
Optic atrophy, Attenuation of retinal blood vessels |
OMIM:165510 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Hyperphosphaturia, Hypercalciuria, Nephrolithiasis, Renal phosphate wasting, Hypophosphatemia |
OMIM:612286 |
Cataract 50 With Or Without Glaucoma |
|
Retinal detachment, Cataract, Persistent pupillary membrane |
OMIM:620253 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Nephropathy, Severe short stature, Elevated circulating creatinine concentration, Decreased glome... |
OMIM:242530 |
Adams-Oliver Syndrome 4 |
|
Short toe, Patent ductus arteriosus, Absent middle phalanx of the 3rd toe, Aplasia of the middle ... |
OMIM:615297 |
Hypotonia-Cystinuria Syndrome |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Postnatal ... |
OMIM:606407 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Hypertonia, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypoparathyroidism, Hip contracture, Hyperphosphaturia, Bowing of the long bones, Severe short st... |
OMIM:156400 |
Fanconi Renotubular Syndrome 3 |
|
Hyperphosphaturia, Short stature, Bowing of the legs, Elevated circulating creatinine concentrati... |
OMIM:615605 |
Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... |
OMIM:615373 |
Cardiomyopathy, Dilated, 1Bb |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:612877 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... |
OMIM:612925 |
Retinitis Pigmentosa 30 |
|
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy... |
OMIM:607921 |
Sanjad-Sakati Syndrome |
|
Hypoparathyroidism, Hypoplasia of penis, Short stature, Postnatal growth retardation, Small hand,... |
ORPHA:2323 |
Optic Atrophy 2 |
|
Optic atrophy |
OMIM:311050 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Anterior Segment Dysgenesis 1 |
|
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... |
OMIM:107250 |
Cardiomyopathy, Dilated, 1K |
|
Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm |
OMIM:605582 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Death in infancy, Unilateral renal agenesis, Anomalous origin of left coronary artery from the pu... |
OMIM:618845 |
Bietti Crystalline Dystrophy |
|
Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment... |
ORPHA:41751 |
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant |
|
Optic atrophy |
OMIM:165199 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Bulging epiphyses, Bowing of the legs, Subperiosteal bone resorption, Delayed epiphyseal ossifica... |
OMIM:264700 |
Carvajal Syndrome |
|
Congestive heart failure, Dilated cardiomyopathy, Patchy palmoplantar hyperkeratosis |
ORPHA:65282 |
Bardet-Biedl Syndrome 11 |
|
Polydactyly |
OMIM:615988 |
Left Ventricular Noncompaction 10 |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:615396 |
Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
Mucolipidosis Iv |
|
Optic atrophy, Retinal degeneration, Corneal opacity, Opacification of the corneal stroma |
OMIM:252650 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Hyperphosphaturia, Bowing of the legs, Growth delay, Hypocalcemia, Hypophosphatemia |
ORPHA:89937 |
Uremic Pruritus |
|
Renal hypophosphatemia, Hypercalcemia, Chronic kidney disease, Hypermagnesemia, Stage 5 chronic k... |
ORPHA:94059 |
Split-Foot Malformation With Mesoaxial Polydactyly |
|
1-2 toe syndactyly, Mesoaxial hand polydactyly, 4-5 toe syndactyly, Split hand, Split foot |
OMIM:616890 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Hypercalciuria, Nephrocalcinosis, Growth delay, Hypokalemia, Distal renal tubular acidosis |
OMIM:602722 |
X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Abnormal renal tubular resorption, Hypercalciuria, Hyperprostaglandinuria, Nephrocalcinosis, Hype... |
ORPHA:73224 |
Adenine Phosphoribosyltransferase Deficiency |
|
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... |
OMIM:614723 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Short stature, Increased bl... |
ORPHA:251004 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Atrial fibrillation, Left ventricular noncompaction cardiomyopathy,... |
OMIM:604169 |
Posterior Polymorphous Corneal Dystrophy |
|
Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm... |
ORPHA:98973 |
Cornea Plana 2, Autosomal Recessive |
|
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness |
OMIM:217300 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612926 |
Nephronophthisis-Like Nephropathy 2 |
|
Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibr... |
OMIM:619468 |
C3 Glomerulopathy |
|
Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext... |
ORPHA:329918 |
Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Optic atrophy, Corneal dystrophy, Developmental cataract |
ORPHA:2572 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Renal insufficiency, Dystonia, Dysuria, Elevated circulating creatinine concentration, Hyperurico... |
ORPHA:79233 |
Cystathioninuria |
|
Tremor, Cystathioninuria, Nephrolithiasis, Cystathioninemia, Talipes equinovarus |
ORPHA:212 |
Lethal Faciocardiomelic Dysplasia |
|
Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia of the radius, Pate... |
ORPHA:1972 |
Nephronophthisis 9 |
|
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613824 |
Cardiomyopathy, Familial Hypertrophic, 15 |
|
Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Left ventricular outfl... |
OMIM:613255 |
Fanconi Renotubular Syndrome 1 |
|
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Short s... |
OMIM:134600 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612924 |
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor, Mildly elevated creatine kinase |
OMIM:614369 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Syndactyly, Postaxial hand polydactyly |
OMIM:615938 |
Bardet-Biedl Syndrome 14 |
|
Polydactyly |
OMIM:615991 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microcoria, Optic pit, Iris coloboma, Chorioretinal coloboma |
OMIM:616428 |
Carpenter Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, Postaxial hand polydactyly, Patent ductus arterios... |
ORPHA:65759 |
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development |
|
Opacification of the corneal stroma |
OMIM:204850 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Proteinuria, Glomerulonephritis, Rhizomelia, Short iliac bones, Short stature, Metaphyseal wideni... |
OMIM:614376 |
Cardiomyopathy, Dilated, 1Gg |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Car... |
OMIM:613642 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Coarse metaphyseal trabecularization, Hyperparathyroidism, Short stature, Nephrolithiasis, Genu v... |
ORPHA:93160 |
Zimmermann-Laband Syndrome 3 |
|
Aplasia of the distal phalanx of the 5th toe, Patent ductus arteriosus, Absent distal phalanx of ... |
OMIM:618658 |
Bardet-Biedl Syndrome 19 |
|
Mesoaxial hand polydactyly, Postaxial polydactyly, Patent ductus arteriosus, Postaxial foot polyd... |
OMIM:615996 |
Hypophosphatasia, Infantile |
|
Elevated urine pyrophosphate, Elevated plasma pyrophosphate, Hypercalcemia, Micromelia, Bowing of... |
OMIM:241500 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Extrapyramidal muscular rigidity, Proteinuria, Urinary incontinence, Elevated circu... |
ORPHA:94093 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Leukocoria, Uveitis, Microcor... |
OMIM:221900 |
Mpdu1-Cdg |
|
Decreased serum insulin-like growth factor 1, Decreased response to growth hormone stimulation te... |
ORPHA:79323 |
Bardet-Biedl Syndrome 13 |
|
Polydactyly |
OMIM:615990 |
X-Linked Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy |
ORPHA:293621 |
Birdshot Chorioretinopathy |
|
Retinal detachment, Optic disc pallor, Cataract, Abnormal chorioretinal morphology, Choroidal neo... |
ORPHA:179 |
Oculoskeletodental Syndrome |
|
Metaphyseal dysplasia, Short stature, Hypercalcemia, Nephrocalcinosis, Short 5th finger, Hypocalc... |
ORPHA:557003 |
Enamel-Renal Syndrome |
|
Increased circulating osteocalcin level, Renal insufficiency, Hypophosphaturia, Impaired renal co... |
ORPHA:1031 |
Glaucoma 1, Open Angle, P |
|
Increased cup-to-disc ratio |
OMIM:177700 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Short stature, Irregular, rachitic-like metaphyses, Subperiosteal bone resorption, Postnatal grow... |
ORPHA:289157 |
Retinitis Pigmentosa 71 |
|
Optic disc pallor, Optic disc drusen, Perifoveal ring of hyperautofluorescence, Rod-cone dystroph... |
OMIM:616394 |
Blue Diaper Syndrome |
|
Nephrocalcinosis, Abnormal circulating tryptophan concentration, Hypercalcemia |
OMIM:211000 |
Polycystic Liver Disease 4 With Or Without Kidney Cysts |
|
Hepatic cysts, Renal cyst |
OMIM:617875 |
Polycystic Liver Disease 3 With Or Without Kidney Cysts |
|
Hepatic cysts, Renal cyst |
OMIM:617874 |
Krt1-Related Diffuse Nonepidermolytic Keratoderma |
|
Diffuse palmoplantar hyperkeratosis, Erythema, Nonepidermolytic palmoplantar hyperkeratosis, Palm... |
ORPHA:530838 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate exc... |
OMIM:211900 |
Fanconi Renotubular Syndrome 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Genu valgum, Aminoaciduria, Glycos... |
OMIM:618913 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Neonatal death, Renal cyst |
OMIM:614870 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hyperphosphaturia, Polyuria, Hypercalcemia, Primary hyperparathyroidism, Hypercalciur... |
OMIM:239200 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Decreased se... |
OMIM:612736 |
Galactosialidosis |
|
Cherry red spot of the macula, Corneal opacity |
ORPHA:351 |
Ring Chromosome 10 Syndrome |
|
Sandal gap, Tapered finger, Renal hypoplasia/aplasia, Hypocalcemia, Intrauterine growth retardation |
ORPHA:1438 |
Incessant Infant Ventricular Tachycardia |
|
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... |
ORPHA:45453 |
Cystinosis |
|
Renal insufficiency, Proteinuria, Short stature, Nephrogenic diabetes insipidus, Abnormal pyramid... |
ORPHA:213 |
Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Hypertriglyceridemia, Bowing of the long bones, Diabetes mellitus, Hypercalciu... |
ORPHA:2088 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Abnormal circulating aldosterone, Reduced blood urea nitrogen, Hypernatriuria, Hypo... |
OMIM:300539 |
Cardiomyopathy, Dilated, 1V |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... |
OMIM:613697 |
Bardet-Biedl Syndrome 5 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615983 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Urinary incontinence, Parkinsonism, Abnormal circulating calcium concentration, Tremor, Chorea, R... |
OMIM:213600 |
Hypouricemia, Renal, 1 |
|
Proteinuria, Hypouricemia, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricos... |
OMIM:220150 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Proteinuria, Hemolytic-uremic syndrome, Tremor, Elevated circulating creatinine concentration, In... |
OMIM:274150 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hyperphosphaturia, Diabetes mellitus, Proteinuria, Hypouricemia, Short stature, Hypophosphatemia,... |
OMIM:616026 |
Stickler Syndrome Type 2 |
|
Retinal detachment, Cataract, Corneal opacity, Abnormal vitreous humor morphology, Retinopathy |
ORPHA:90654 |
Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wa... |
ORPHA:3337 |
Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Ketonuria, Proteinuria, Hypouricemia, Postnatal growth retardation, Hypercalci... |
OMIM:227810 |
Cardiomyopathy, Dilated, 2B |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Atrial fibrillation, Dilate... |
OMIM:614672 |
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Recurrent urinary tract infections, Renal magnesium wasting, Chronic kidney disease, Stage 5 chro... |
OMIM:248190 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hypergonadotropic hypogonadism, Elevated circulating thyroid-stimulating hormone concentration, P... |
OMIM:617872 |
Sandhoff Disease |
|
Recurrent respiratory infections, Cherry red spot of the macula, Congestive heart failure |
ORPHA:796 |
Cone-Rod Dystrophy 16 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Ma... |
OMIM:614500 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hypercalcemia, Elevated circulating parathyroid hormone level, Hyperphosphatemia, Parathyroid hyp... |
OMIM:617994 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Corneal arcus |
OMIM:620058 |
Oculoskeletodental Syndrome |
|
Renal agenesis, Hypercalcemia, Short stature, Elbow flexion contracture, Hypercalciuria, Mucopoly... |
OMIM:618440 |
Familial Progressive Cardiac Conduction Defect |
|
Bundle branch block, Heart block, Congestive heart failure, Syncope, Arrhythmia |
ORPHA:871 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia |
DECIPHER:16 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... |
OMIM:601493 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Glomerulopathy, Renal insufficiency, Hyperparathyroidism, Proteinuria, Hypercalcemia |
ORPHA:2668 |
Non-Functioning Paraganglioma |
|
Paraganglioma of head and neck, Hypercalcemia, Elevated urinary norepinephrine level, Tremor, Ele... |
ORPHA:94080 |
Distal 7Q11.23 Microdeletion Syndrome |
|
Patent ductus arteriosus |
ORPHA:254351 |
Oncogenic Osteomalacia |
|
Hyperphosphaturia, Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Abnormal fem... |
ORPHA:352540 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Renal phosphate wasting, Hypophosphatemic rickets, Short stature, Hypophosphatemia |
OMIM:193100 |
Limbal Stem Cell Deficiency |
|
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... |
ORPHA:171673 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l... |
OMIM:300971 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:265430 |
Autosomal Recessive Spastic Paraplegia Type 48 |
|
Lower limb spasticity, Ataxia, Urinary incontinence, Elevated circulating creatine kinase concent... |
ORPHA:306511 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... |
OMIM:604400 |
Atrial Septal Defect, Sinus Venosus Type |
|
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... |
ORPHA:99105 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
Myopathy, Tubular Aggregate, 2 |
|
Hypocalcemia, Elevated circulating creatine kinase concentration |
OMIM:615883 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Hyperkalemia, Stage 5 chronic kidney disease, ... |
OMIM:602088 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Death in infancy, Tricuspid regurgitation, Proximal placement of thumb, Abnormal thumb morphology... |
ORPHA:1120 |
Ventricular Septal Defect 3 |
|
Pulmonary artery stenosis, Patent ductus arteriosus |
OMIM:614432 |
Polydactyly, Postaxial, Type A6 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Broad phalanges of the 5th finger |
OMIM:615226 |
Phacoanaphylactic Uveitis |
|
Abnormal pupil morphology, Vitritis, Pseudophakia, Posterior uveitis, Corneal keratic precipitate... |
ORPHA:209959 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Postnatal growth retardation, Elevated circulating creatinine concentration, Abnormal renal corti... |
OMIM:616733 |
Familial Reactive Perforating Collagenosis |
|
Abnormal epidermal morphology, Diabetes mellitus, Chronic kidney disease |
ORPHA:79147 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Hyperparathyroidism, Hypercalcemia, Hurthle cell thyroid adenoma, Nephrolithiasis, Papillary rena... |
OMIM:145001 |
Simpson-Golabi-Behmel Syndrome, Type 2 |
|
Recurrent respiratory infections, Postaxial hand polydactyly, Recurrent upper respiratory tract i... |
OMIM:300209 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Optic disc pallor, Band keratopathy, Hypoplasia of the iris, Anterior synechiae of the anterior c... |
OMIM:614195 |
Bardet-Biedl Syndrome 4 |
|
Syndactyly, Abnormality of the kidney, Renal cyst, Polydactyly, Hypogonadism, Brachydactyly |
OMIM:615982 |
Corneal Dystrophy, Fuchs Endothelial, 1 |
|
Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran... |
OMIM:136800 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hyperparathyroidism, Short stature, Hypercalcemia, Parathyroid hyperplasia, Renal phosphate wasti... |
OMIM:612089 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Renal phosphate wasting, Hyperphosphaturia, Nephrolithiasis, Hypophosphatemia |
OMIM:612287 |
Alport Syndrome 3A, Autosomal Dominant |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... |
OMIM:104200 |
Combined Oxidative Phosphorylation Deficiency 17 |
|
Death in infancy, Hypertrophic cardiomyopathy, Congestive heart failure, Death in childhood |
OMIM:615440 |
Olivopontocerebellar Atrophy-Deafness Syndrome |
|
Optic atrophy, Chorioretinal coloboma |
ORPHA:2732 |
Indomethacin Embryofetopathy |
|
Nephropathy, Renal insufficiency, Multicystic kidney dysplasia, Abnormal renal tubule morphology |
ORPHA:1909 |
Paroxysmal Non-Kinesigenic Dyskinesia |
|
Torticollis, Involuntary movements, Rigidity, Chorea, Choreoathetosis, Hyperkinetic movements, Dy... |
ORPHA:98810 |
Cardiomyopathy, Dilated, 1G |
|
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... |
OMIM:604145 |
Weill-Marchesani Syndrome 4 |
|
Iridodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the anterior chamb... |
OMIM:613195 |
East Syndrome |
|
Ataxia, Renal salt wasting, Renal magnesium wasting, Enuresis, Hypokalemia, Hyperaldosteronism, I... |
ORPHA:199343 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Short stature, Postnatal growth retardation, ... |
ORPHA:93325 |
Orofaciodigital Syndrome Xi |
|
Postaxial polydactyly |
OMIM:612913 |
Anterior Segment Dysgenesis 3 |
|
Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post... |
OMIM:601631 |
Weyers Acrofacial Dysostosis |
|
Postaxial hand polydactyly, Postaxial foot polydactyly, Short palm, Clinodactyly of the 5th finge... |
OMIM:193530 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Chorioretinal coloboma, Posterior e... |
ORPHA:1473 |
Holt-Oram Syndrome |
|
Finger syndactyly, Paroxysmal atrial fibrillation, Down-sloping shoulders, First degree atriovent... |
ORPHA:392 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait |
OMIM:613227 |
Aniridia 1 |
|
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... |
OMIM:106210 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Diabetes mellitus, Hypertriglyceridemia, Short stature, Hypocalcemia, Hypercholesterolemia |
OMIM:612526 |
Ocular Pigment Dispersion With Or Without Glaucoma |
|
Optic atrophy |
OMIM:600510 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen |
OMIM:620085 |
Cardiomyopathy, Dilated, 1R |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:613424 |
Medullary cystic kidney disease 2 |
|
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia... |
OMIM:603860 |
Cardiomyopathy, Dilated, 1O |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... |
OMIM:608569 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... |
ORPHA:364055 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic... |
ORPHA:730 |
Aorto-Ventricular Tunnel |
|
Abnormal coronary artery morphology, Aorto-ventricular tunnel, Congestive heart failure, Heart mu... |
ORPHA:3400 |
Hyperparathyroidism 4 |
|
Hypercalcemia, Primary hyperparathyroidism, Parathyroid carcinoma, Nephrolithiasis |
OMIM:617343 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Elevated circulating creatinine concentration,... |
OMIM:235400 |
Pentasomy X |
|
Camptodactyly of finger, Patent ductus arteriosus, Small hand, Short foot, Radioulnar synostosis,... |
ORPHA:11 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Renal insufficiency, Supraventricular arrhythmia, Raynaud phenomenon, Retinal arteriolar tortuosi... |
OMIM:611773 |
Progressive Familial Intrahepatic Cholestasis |
|
Short stature, Hypocalcemia |
ORPHA:172 |
Nephronophthisis 14 |
|
Polycystic kidney dysplasia, Nephronophthisis |
OMIM:614844 |
Oculoauricular Syndrome |
|
Cone/cone-rod dystrophy, Retinal detachment, Cataract, Sclerocornea, Morning glory anomaly, Rod-c... |
OMIM:612109 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Short stature, Tremor, Growth delay, Decreased serum creatinine, Intrauterine growth retardation,... |
OMIM:617744 |
Leber Congenital Amaurosis 4 |
|
Keratoconus, Optic disc pallor, Cone/cone-rod dystrophy, Macular atrophy, Attenuation of retinal ... |
OMIM:604393 |
Cardiomyopathy, Familial Hypertrophic, 1 |
|
Congestive heart failure, Arrhythmia, Asymmetric septal hypertrophy |
OMIM:192600 |
Kenny-Caffey Syndrome, Type 1 |
|
Proportionate short stature, Hypomagnesemia, Small hand, Short foot, Slender long bone, Birth len... |
OMIM:244460 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Corneal arcus |
OMIM:144300 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Bulging epiphyses, Bowing of the legs, Delayed epiphyseal ossification, Enlargement of the wrists... |
OMIM:600081 |
Renal Tubular Dysgenesis |
|
Nephropathy, Proximal tubulopathy, Renotubular dysgenesis, Multiple renal cysts |
ORPHA:3033 |
Intracranial Hypertension, Idiopathic |
|
Papilledema |
OMIM:243200 |
Bardet-Biedl Syndrome 9 |
|
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Polyda... |
OMIM:615986 |
Neovascular Glaucoma |
|
Retinal detachment, Abnormal posterior eye segment morphology, Iris neovascularization, Retinal v... |
ORPHA:94058 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Epiphyseal dysplasia, Congenital hip dislocation, Renal hypoplasia, Nep... |
OMIM:617913 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Iris coloboma, Inferior chorioretinal coloboma |
OMIM:614497 |
Fanconi Anemia, Complementation Group O |
|
Death in infancy, Miscarriage, Stage 5 chronic kidney disease, Renal cyst, Neonatal death, Hydron... |
OMIM:613390 |
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Epidermal acanthosis, Tetraplegia/tetraparesis, Rigidity, Paraplegia, Cutis laxa, Hypogonadism, S... |
ORPHA:2269 |
Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Corneal stromal edema, Corneal opacity, Corneal guttata |
OMIM:613267 |
Leber Congenital Amaurosis 19 |
|
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels |
OMIM:618513 |
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:3177 |
Ichthyosis, X-Linked |
|
Opacification of the corneal stroma |
OMIM:308100 |
Osteopetrosis, Autosomal Recessive 9 |
|
Hyperparathyroidism, Stage 3 chronic kidney disease, Postnatal growth retardation, Elevated circu... |
OMIM:620366 |
Idiopathic Panuveitis |
|
Cataract, Choroidal neovascularization, Vitreous haze, Vitreous floaters, Epiretinal membrane, Vi... |
ORPHA:280921 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... |
OMIM:613135 |
Microphthalmia, Isolated 5 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Retinal pigment epithelial ... |
OMIM:611040 |
Peripheral Cone Dystrophy |
|
Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration |
OMIM:609021 |
Retinitis Pigmentosa 57 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro... |
OMIM:613582 |
Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Patent ductus arter... |
ORPHA:60041 |
Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Short stature, Hypocitraturia, Paralysis, Nephrolithiasis, Renal cyst, Hyperca... |
ORPHA:18 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Elevated circulating alpha-fetoprotein c... |
OMIM:613095 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Increased circulating corticosterone level, Renal salt wasting, Decreased circulati... |
OMIM:610600 |
Cardiomyopathy, Dilated, 1Kk |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D... |
OMIM:615248 |
Recessive X-Linked Ichthyosis |
|
Opacification of the corneal stroma |
ORPHA:461 |
Dystonia, Dopa-Responsive |
|
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Park... |
OMIM:128230 |
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 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypoparathyroidism, Renal insufficiency, Diabetes mellitus, Unilateral renal agenesis, Parathyroi... |
ORPHA:2237 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia, Coxa valga |
OMIM:191420 |
Alpha-Heavy Chain Disease |
|
Growth delay, Hypocalcemia |
ORPHA:100025 |
Ectopia Lentis Et Pupillae |
|
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... |
OMIM:225200 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Proximal muscle weakness in upper limbs, Elevated circulating creatine kinase concentration, Trem... |
ORPHA:276435 |
Medullary Sponge Kidney |
|
Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria |
ORPHA:1309 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome... |
OMIM:618061 |
Drug-Induced Lupus Erythematosus |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:231111 |
Char Syndrome |
|
Clinodactyly of the 5th finger, Patent ductus arteriosus, Distal/middle symphalangism of 5th finger |
OMIM:169100 |
Retinal Dystrophy And Obesity |
|
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Astigmatism, Retinal d... |
OMIM:616188 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia |
OMIM:618425 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Frequent falls |
OMIM:616921 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Hyperparathyroidism, Increased serum prostaglandin E2, Polyuria, Hypercalcemia,... |
OMIM:601678 |
Small Cell Carcinoma Of The Bladder |
|
Hematuria, Hypercalcemia, Recurrent urinary tract infections, Dysuria |
ORPHA:284400 |
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome |
|
Patent ductus arteriosus, 2-3 finger syndactyly |
ORPHA:1338 |
Retinitis Pigmentosa 33 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:610359 |
Congenital Heart Defects, Multiple Types, 2 |
|
Aortic regurgitation, Atrial fibrillation, Congestive heart failure, Left ventricular outflow tra... |
OMIM:614980 |
Cryoglobulinemia, Familial Mixed |
|
Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Ab... |
OMIM:123550 |
Orthostatic Hypotension 1 |
|
Reduced circulating prolactin concentration, Increased blood urea nitrogen, Hypomagnesemia, Noctu... |
OMIM:223360 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short metatarsal, Cone-shaped... |
OMIM:617102 |
Morquio Syndrome C |
|
Corneal opacity |
OMIM:252300 |
Periventricular Nodular Heterotopia 1 |
|
Syndactyly, Cerebral hemorrhage, Patent ductus arteriosus, Stroke, Short finger, Clinodactyly |
OMIM:300049 |
Thrombotic Thrombocytopenic Purpura |
|
Renal insufficiency, Proteinuria, Hematuria, Decreased serum creatinine, Acute kidney injury |
ORPHA:54057 |
Hyperaldosteronism, Familial, Type Iii |
|
Adrenal hyperplasia, Polyuria, Hypercalciuria, Hypokalemia, Hyperaldosteronism, Decreased circula... |
OMIM:613677 |
Pelvis-Shoulder Dysplasia |
|
Optic disc coloboma, Iris coloboma, Opacification of the corneal stroma |
OMIM:169550 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hypertriglyceridemia, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Tetraparesis, Dystonia,... |
OMIM:615924 |
Bartter Syndrome Type 4 |
|
Hyponatremia, Renal salt wasting, Increased urinary potassium, Impaired renal concentrating abili... |
ORPHA:89938 |
Hemorrhagic Fever-Renal Syndrome |
|
Anuria, Proteinuria, Glomerulonephritis, Petechiae, Chronic kidney disease, Elevated circulating ... |
ORPHA:340 |
Porphyria Cutanea Tarda |
|
Decreased circulating hepcidin concentration, Diabetes mellitus, Abnormal circulating porphyrin c... |
ORPHA:101330 |
Spastic Paraparesis And Deafness |
|
Hypogonadism, Short stature, Tremor, Spastic paraparesis |
OMIM:312910 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Cystic medial necrosis, Aortic regurgitation, Anterior cerebral artery stenosis, Posterior cerebr... |
OMIM:132900 |
Endocardial Fibroelastosis |
|
Congestive heart failure, Sandal gap, Restrictive cardiomyopathy |
ORPHA:2022 |
Acromesomelic Dysplasia 2A |
|
Death in infancy, Hypoplasia of the ulna, Short femur, Short humerus, Aplasia/Hypoplasia of the p... |
OMIM:200700 |
Cardiomyopathy, Dilated, 1Nn |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... |
OMIM:615916 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Dystonia, ... |
OMIM:614561 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Recurrent respiratory infections, Short long bone, Postaxial polydactyly, Brachydactyly |
OMIM:615633 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Hypermanganesemia, Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bradykinesia,... |
ORPHA:521406 |
Butyrylcholinesterase Deficiency |
|
Congestive heart failure, Myocardial infarction |
ORPHA:132 |
Polydactyly-Myopia Syndrome |
|
Postaxial hand polydactyly |
ORPHA:2917 |
Thomas Syndrome |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia |
ORPHA:3316 |
Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... |
ORPHA:2098 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc... |
OMIM:607317 |
Albers-Schönberg Osteopetrosis |
|
Short stature, Genu valgum, Hypocalcemia, Abnormal epiphysis morphology, Abnormal metacarpal morp... |
ORPHA:53 |
Genitopalatocardiac Syndrome |
|
Hypospadias, Renal cyst, Right aortic arch, Transposition of the great arteries, Double outlet ri... |
OMIM:231060 |
Xp22.3 Microdeletion Syndrome |
|
Opacification of the corneal stroma |
ORPHA:1643 |
Holt-Oram Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi... |
OMIM:142900 |
Cardiomyopathy, Dilated, 2F |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:619747 |
Leukoencephalopathy With Vanishing White Matter 2 |
|
Cataract, Optic atrophy |
OMIM:620312 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Postaxial hand polydactyly, Postaxial foot polydactyly, Trident acetabulum, Acetabular spurs, Bra... |
OMIM:617405 |
Joubert Syndrome 20 |
|
4-5 toe syndactyly, Postaxial polydactyly |
OMIM:614970 |
Spastic Paraplegia 74, Autosomal Recessive |
|
Peripheral axonal neuropathy, Optic atrophy |
OMIM:616451 |
Kenny-Caffey Syndrome, Type 2 |
|
Hypoparathyroidism, Transient hypophosphatemia, Severe short stature, Short stature, Hyperphospha... |
OMIM:127000 |
Joubert Syndrome 17 |
|
Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly |
OMIM:614615 |
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Episodic hypokalemia, Renal magnesium wasting, Nephrocalcinosis, Hypomagnesemia, Renal potassium ... |
ORPHA:564178 |
Leber Congenital Amaurosis 2 |
|
Keratoconus, Optic disc pallor, Cataract, Fundus atrophy, Absent foveal reflex, Pigmentary retino... |
OMIM:204100 |
Long Qt Syndrome 16 |
|
Patent ductus arteriosus after birth at term, T-wave alternans, Second degree atrioventricular bl... |
OMIM:618782 |
Rhabdoid Tumor |
|
Renal neoplasm, Cerebral palsy, Hypercalcemia, Hematuria, Hemiplegia |
ORPHA:69077 |
Joubert Syndrome 40 |
|
Postaxial polydactyly |
OMIM:619582 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Elevated urinary 4-hydroxybutyric acid, Ataxia, Increased level of gamma-aminobutyric acid in uri... |
OMIM:271980 |
Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
Atrial Standstill |
|
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... |
ORPHA:1344 |
Hypouricemia, Hypercalcinuria, And Decreased Bone Density |
|
Hypouricemia, Hypercalciuria |
OMIM:242050 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration |
OMIM:619658 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Proteinuria, Hypercalcemia, Elevat... |
ORPHA:276621 |
Cystic Hamartoma Of Lung And Kidney |
|
Multicystic kidney dysplasia |
ORPHA:2111 |
Malignant Hyperthermia Of Anesthesia |
|
Myoglobinuria, Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise, Acute ki... |
ORPHA:423 |
Brachyolmia Type 1, Toledo Type |
|
Opacification of the corneal stroma |
OMIM:271630 |
Dystonia 6, Torsion |
|
Torticollis, Writer's cramp, Torsion dystonia, Myoclonus, Limb dystonia, Oromandibular dystonia, ... |
OMIM:602629 |
Hsd10 Disease |
|
Elevated urinary 3-hydroxybutyric acid, Ataxia, Postnatal growth retardation, Tremor, Rigidity, C... |
ORPHA:391417 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave inversion, Reduced left ve... |
OMIM:608751 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Overlapping toe, Postaxial polydactyly, Patent ductus arteriosus, Preaxial polydactyly, Bilateral... |
OMIM:618142 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2 |
|
Medullary nephrocalcinosis, Hypercalciuria, Radial bowing |
OMIM:617993 |
Trisomy X |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Tremor, Hip dysplasia, Clinodactyly of th... |
ORPHA:3375 |
Familial Aortic Dissection |
|
Aortic regurgitation, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Mucoid extrac... |
ORPHA:229 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Neonatal death, Death in infancy, Cystic renal dysplasia, Ectopic kidney |
OMIM:613730 |
Greig Cephalopolysyndactyly Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Postaxial han... |
ORPHA:380 |
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Methylmalonic acidemia, Hypomethioninemia, Methylmalonic aciduria, Hyperhomocystinemia, Hypertoni... |
OMIM:236270 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Lower limb spasticity, Urinary incontinence, Clonus, Tremor, Spastic paraplegia, Babinski sign, U... |
OMIM:600363 |
Gelatinous Drop-Like Corneal Dystrophy |
|
Subepithelial corneal opacities, Conjunctival amyloidosis, Corneal neovascularization, Central op... |
ORPHA:98957 |
Gracile Bone Dysplasia |
|
Short stature, Flared metaphysis, Slender long bone, Hypocalcemia, Micropenis, Brachydactyly |
OMIM:602361 |
Urocanic Aciduria |
|
Ataxia, Urocanic aciduria, Abnormal circulating histidine concentration, Gait ataxia, Truncal ata... |
ORPHA:210128 |
Congenital Disorder Of Glycosylation, Type If |
|
Ataxia, Renal cortical cysts, Hypertonia, Scaling skin, Dry skin |
OMIM:609180 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Recurrent respiratory infections, Left-to-right shunt, Congestive heart failure, Patent ductus ar... |
ORPHA:99050 |
Myoclonus, Familial, 1 |
|
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor |
OMIM:614937 |
Bardet-Biedl Syndrome 17 |
|
Mesoaxial polydactyly, Short fourth metatarsal, Polyuria, Mesoaxial hand polydactyly, Postaxial h... |
OMIM:615994 |
Morbid Obesity And Spermatogenic Failure |
|
Congestive heart failure, Hypertension, Myocardial infarction, Premature coronary artery atherosc... |
OMIM:615703 |
Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... |
OMIM:605407 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Tachycardia, Abnormal coronary artery morphology, Cardia... |
ORPHA:860 |
Aicardi-Goutieres Syndrome 5 |
|
Spasticity, Dry skin, Scaling skin |
OMIM:612952 |
Cholera |
|
Hyponatremia, Abnormality of renal excretion, Abnormal blood ion concentration, Hypokalemia, Hypo... |
ORPHA:173 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
Myoclonus-Dystonia Syndrome |
|
Torticollis, Writer's cramp, Myoclonus, Dystonia, Spinal myoclonus, Limb myoclonus |
ORPHA:36899 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Renal cyst, Increased total bilirubin |
OMIM:174050 |
Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Torticollis, Kinetic tremor, Postural tremor, Involuntary movements, Myoclonus |
OMIM:611092 |
Hypomagnesemia 1, Intestinal |
|
Hypocalcemia, Hypomagnesemia |
OMIM:602014 |
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Broad hallux, Postaxial hand polydactyly, 2-3 finger syndactyly, 2-3 toe syndactyly, Coarctation ... |
OMIM:217085 |
Wilson Disease |
|
Decreased circulating ceruloplasmin concentration, Tremor, Hand tremor, Aminoaciduria, Hypoalbumi... |
OMIM:277900 |
Hypercalciuria, Absorptive, 2 |
|
Hypercalciuria, Calcium oxalate nephrolithiasis |
OMIM:143870 |
Distal Deletion 17Q |
|
Aplasia/Hypoplasia of the thumb, Micromelia, Abnormal thumb morphology, Patent ductus arteriosus,... |
ORPHA:1597 |
Autosomal Dominant Coarctation Of Aorta |
|
Aortic arch aneurysm, Patent ductus arteriosus, Abnormal aortic arch morphology |
ORPHA:1455 |
Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc drusen, Perifoveal ring o... |
OMIM:600059 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:85450 |
Meckel Syndrome, Type 11 |
|
Polycystic kidney dysplasia |
OMIM:615397 |
Retinitis Pigmentosa 86 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:618613 |
Spinocerebellar Ataxia 20 |
|
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor |
OMIM:608687 |
Non-Involuting Congenital Hemangioma |
|
Congestive heart failure, Prominent superficial veins, Peripheral arteriovenous fistula, Telangie... |
ORPHA:141179 |
Retinitis Pigmentosa 81 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... |
OMIM:617871 |
Ichthyosis Hystrix, Curth-Macklin Type |
|
Palmoplantar keratoderma, Scaling skin |
OMIM:146590 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Dystonia, Tremor, Choreoathetosis, Hypertonia, Myoclonus, Hyperphenylalaninemia |
OMIM:261630 |
Apparent Mineralocorticoid Excess |
|
Renal insufficiency, Short stature, Abnormal urine sodium concentration, Nephrocalcinosis, Hypoka... |
ORPHA:320 |
Renal Hypoplasia, Bilateral |
|
Hyponatremia, Proteinuria, Short stature, Chronic kidney disease, Hyperkalemia, Oliguria, Renal h... |
ORPHA:97362 |
Meckel Syndrome, Type 9 |
|
Multicystic kidney dysplasia |
OMIM:614209 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Stage 3 chronic kidney disease, Short stature, Elevated circulating creatine kinase concentration... |
OMIM:619743 |
Central Retinal Vein Occlusion |
|
Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha... |
ORPHA:411527 |
Hepatorenocardiac Degenerative Fibrosis |
|
Portal hypertension, Renal cyst, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced... |
OMIM:619902 |
Retinitis Pigmentosa 62 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst... |
OMIM:614181 |
Glycine Encephalopathy 1 |
|
Hyperglycinemia, Hyperglycinuria, Myoclonus |
OMIM:605899 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Renal salt wasting, Precocious puberty, Hyper... |
OMIM:614736 |
Infantile Nephropathic Cystinosis |
|
Pigmentary retinopathy, Abnormal cornea morphology, Corneal crystals |
ORPHA:411629 |
Joubert Syndrome 16 |
|
Oculomotor apraxia, Polydactyly, Renal cyst, Nephronophthisis |
OMIM:614465 |
Urocanase Deficiency |
|
Short stature, Ataxia, Urocanic aciduria, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:276880 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
Bardet-Biedl Syndrome 8 |
|
Postaxial polydactyly |
OMIM:615985 |
Spastic Paraplegia 70, Autosomal Recessive |
|
Growth delay, Spasticity, Ankle clonus, Fasciculations |
OMIM:620323 |
Retinitis Pigmentosa 95 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce... |
OMIM:620102 |
Optic Atrophy 12 |
|
Optic disc pallor, Optic atrophy |
OMIM:618977 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... |
ORPHA:3329 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Clinodactyly of the 5th finger, Patent ductus arteriosus, Single transverse palmar crease |
OMIM:619717 |
Keratosis Palmoplantaris Striata Ii |
|
Palmoplantar keratoderma, Epidermal acanthosis |
OMIM:612908 |
Colchicine Poisoning |
|
Hyponatremia, Renal insufficiency, Oliguria, Abnormal blood ion concentration, Hypophosphatemia, ... |
ORPHA:31824 |
Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis |
ORPHA:1068 |
Diffuse Neonatal Hemangiomatosis |
|
Renal insufficiency, Hypercalcemia, Renal hypoplasia/aplasia |
ORPHA:2123 |
Retinitis Pigmentosa 63 |
|
Optic disc pallor, Rod-cone dystrophy |
OMIM:614494 |
Bardet-Biedl Syndrome 3 |
|
Postaxial polydactyly, Brachydactyly |
OMIM:600151 |
Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Postaxial polydactyly, Hand polydactyly, Foot polydactyly, Short finger, Short ti... |
OMIM:258860 |
Mucous Membrane Pemphigoid |
|
Corneal opacity |
ORPHA:46486 |
Ivic Syndrome |
|
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab... |
OMIM:147750 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Proteinuria, Hypercalcemia, Elevat... |
ORPHA:29072 |
Progressive Myoclonic Epilepsy Type 1 |
|
Ataxia, Limb ataxia, Myoclonus, Morning myoclonic jerks, Intention tremor |
ORPHA:308 |
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development |
|
Erythema, Spastic tetraplegia, Growth delay, Scaling skin, Dry skin, Limb hypertonia |
OMIM:614457 |
Cardiomyopathy, Dilated, 1Oo |
|
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... |
OMIM:620247 |
Coach Syndrome 2 |
|
Oculomotor apraxia, Hyperechogenic kidneys, Elevated circulating creatinine concentration |
OMIM:619111 |
Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Mild postnatal growth retardation, Short stature, Bicarbonaturia, Bicarbonate-... |
ORPHA:47159 |
Joubert Syndrome 7 |
|
Ataxia, Postaxial polydactyly, Postaxial hand polydactyly, Stage 5 chronic kidney disease, Renal ... |
OMIM:611560 |
Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Increased serum pyruvate, Spasticity, Ataxia, Myoclonus |
OMIM:545000 |
Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Renal salt wasting, Hyperkalemia, Growth delay, Increased circulating renin level, ... |
OMIM:203400 |
Scimitar Syndrome |
|
Heart block, Abnormal lung morphology, Pulmonary artery hypoplasia, Patent ductus arteriosus, Par... |
ORPHA:185 |
Peeling Skin Syndrome 5 |
|
Epidermal acanthosis, Scaling skin |
OMIM:617115 |
Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Postnatal growth retardation, Hyperkalemia, Abnormal circulating corticosterone lev... |
ORPHA:556037 |
14Q11.2 Microdeletion Syndrome |
|
Patent ductus arteriosus, Toe syndactyly, Toe clinodactyly |
ORPHA:261120 |
Papillorenal Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Short stature, Absence of renal cor... |
OMIM:120330 |
Liberfarb Syndrome |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment... |
OMIM:618889 |
Combined Saposin Deficiency |
|
Babinski sign, Myoclonus, Fasciculations, Hyperkinetic movements |
OMIM:611721 |
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus, Fasc... |
ORPHA:95434 |
Familial Hyperaldosteronism Type Iii |
|
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:251274 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction |
ORPHA:401901 |
Bacterial Toxic-Shock Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Glomerulonephritis, Elevated circulating... |
ORPHA:36234 |
Ceroid Lipofuscinosis, Neuronal, 11 |
|
Optic atrophy, Retinal dystrophy |
OMIM:614706 |
Ataxia With Fasciculations |
|
Ataxia, Fasciculations |
OMIM:108700 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane |
ORPHA:1067 |
Coronary Arterial Fistula |
|
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... |
ORPHA:2041 |
Joubert Syndrome 10 |
|
Postaxial polydactyly |
OMIM:300804 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Redundant neck skin, Single transverse palmar crease, Renal hypoplasia, Renal cyst, 2-3 toe synda... |
OMIM:236500 |
Igg4-Related Retroperitoneal Fibrosis |
|
Renal insufficiency, Dysuria, Elevated circulating C-reactive protein concentration, Hashimoto th... |
ORPHA:49041 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Incoordination, Elevated circulating creatinine concentration, Growth delay, Increased blood urea... |
OMIM:223900 |
Linear Verrucous Nevus Syndrome |
|
Short metacarpal, Toe syndactyly, Abnormality of the kidney, Hypophosphatemia |
ORPHA:2611 |
Acral Peeling Skin Syndrome |
|
Erythema, Scaling skin, Excessive wrinkling of palmar skin |
ORPHA:263534 |
Cone-Rod Dystrophy, X-Linked, 3 |
|
Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Absent foveal reflex, Astigmatism... |
OMIM:300476 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Increased level of hippuric acid in urine, Glutaric aciduria, Hyperammonemia, 3-Methylglutaric ac... |
OMIM:246450 |
Senior-Loken Syndrome 1 |
|
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... |
OMIM:266900 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Postaxial hand polydactyly |
OMIM:615937 |
Cardiomyopathy, Familial Hypertrophic, 26 |
|
Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Permanent atrial fibrillatio... |
OMIM:617047 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Redundant neck skin, Postnatal growth retardation, Postaxial hand polydactyly, Abnormal renal mor... |
ORPHA:1655 |
Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Hyperphosphaturia, Short stature, Coxa valga, Genu valgum, Hypophosphatemic rickets, Medullary ne... |
OMIM:613312 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Renal insufficiency, Renal hamartoma, Hypercalcemia, Primary hyperparathyroidism, Nephrolithiasis... |
ORPHA:99880 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Polyuria, Renal magnesium wasting, Nephrocalcinosis, Hypokalemia, Hypomagnesemia, Renal potassium... |
OMIM:618314 |
Combined Oxidative Phosphorylation Deficiency 23 |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia |
OMIM:616198 |
Corneal Dystrophy, Fuchs Endothelial, 6 |
|
Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne... |
OMIM:613270 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Hypoplasia of penis, Hydroureter, Abnormality of the upper urinary tract, Patent ductus arteriosu... |
ORPHA:2547 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microcornea, Corneal opacity |
ORPHA:2432 |
Night Blindness, Congenital Stationary, Type 1G |
|
Congenital stationary night blindness, Optic disc pallor, Rod-cone dystrophy |
OMIM:616389 |
Retinitis Pigmentosa 11 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... |
OMIM:600138 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Pulmonary embolism, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy, Arrhythmia |
ORPHA:1345 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Tremor, Fasciculations |
OMIM:182980 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
Patent ductus arteriosus, Chronic kidney disease, Renal hypoplasia, Unilateral renal agenesis |
OMIM:617661 |
Retinitis Pigmentosa 46 |
|
Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Rod-cone dystrophy, At... |
OMIM:612572 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Postural hypotension with compensatory tachycardia, Keratitis, Corneal scarring, Abnormal autonom... |
OMIM:256800 |
Isolated Polycystic Liver Disease |
|
Gastrointestinal hemorrhage, Multiple renal cysts, Vascular dilatation |
ORPHA:2924 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Peripheral arteriovenous fistula, Pulmonary embolism, Venous insuffi... |
ORPHA:90308 |
Odontochondrodysplasia |
|
Death in infancy, Bowing of the long bones, Micromelia, Coxa valga, Patent ductus arteriosus, Con... |
ORPHA:166272 |
Palmoplantar Keratoderma, Nagashima Type |
|
Epidermal acanthosis, Palmoplantar hyperhidrosis, Palmoplantar hyperkeratosis |
OMIM:615598 |
Developmental And Epileptic Encephalopathy 37 |
|
Rigidity, Chorea, Cogwheel rigidity, Choreoathetosis, Hyperkinetic movements, Myoclonus, Spasticity |
OMIM:616981 |
Spastic Paraplegia, Optic Atrophy, And Dementia |
|
Optic disc pallor, Optic atrophy |
OMIM:182830 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... |
OMIM:607450 |
Hirschsprung Disease-Deafness-Polydactyly Syndrome |
|
Postaxial hand polydactyly, Foot polydactyly |
ORPHA:2155 |
Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Postnatal growth retardation, Hyperkalemia, Abnormal circulating corticosterone lev... |
ORPHA:556030 |
Ethylene Glycol Poisoning |
|
Renal insufficiency, Ataxia, Hyperkalemia, Slurred speech, Renal tubular epithelial necrosis, Ren... |
ORPHA:31826 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Coarse metaphyseal trabecularization, Patent ductus arteriosus, Squared iliac bones, Metaphyseal ... |
OMIM:618961 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Tremor, Myoclonus, Dystonia, Frequent falls, Hypothyroidism |
OMIM:619647 |
Nphp3-Related Meckel-Like Syndrome |
|
Multicystic kidney dysplasia, Renal dysplasia |
ORPHA:3032 |
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Hypertension, Dilatation of the cerebral artery, Hepatic cysts, Polycystic kidney dysplasia |
OMIM:600666 |
Juvenile Glaucoma |
|
Optic neuropathy, Abnormality iris morphology, Retinal arterial occlusion, Retinal vein occlusion... |
ORPHA:98977 |
Parathyroid Carcinoma |
|
Renal insufficiency, Renal hamartoma, Hypercalcemia, Primary hyperparathyroidism, Nephrolithiasis... |
ORPHA:143 |
Peeling Skin Syndrome 3 |
|
Erythema, White scaling skin |
OMIM:616265 |
Dystonia 23 |
|
Axial dystonia, Torticollis, Writer's cramp, Myoclonus, Head tremor, Limb dystonia |
OMIM:614860 |
Oligomeganephronia |
|
Renal insufficiency, Proteinuria, Unilateral renal agenesis, Abnormal renal cortex morphology, Gl... |
ORPHA:2260 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Polyuria, Elevated circulating thyroid-stimulating hormone co... |
OMIM:618183 |
Combined Oxidative Phosphorylation Deficiency 2 |
|
Neonatal death, Patent ductus arteriosus, Brachydactyly |
OMIM:610498 |
Retinitis Pigmentosa 32 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... |
OMIM:609913 |
Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis... |
OMIM:610205 |
Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C... |
OMIM:115200 |
Bone Dysplasia, Lethal Holmgren Type |
|
Recurrent respiratory infections, Metaphyseal dysplasia, Rhizomelia, Micromelia, Abnormality of t... |
ORPHA:1842 |
Rapidly Involuting Congenital Hemangioma |
|
Congestive heart failure, Prominent superficial veins, Peripheral arteriovenous fistula, Telangie... |
ORPHA:141184 |
Say Syndrome |
|
Ulnar deviation of the 3rd finger, Short stature, Tapered finger, Proximal renal tubular acidosis... |
OMIM:181180 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... |
OMIM:612098 |
Sympathetic Ophthalmia |
|
Papilledema, Retinal detachment, Cataract, Vitreous floaters, Vitritis, Retinal hemorrhage, Macul... |
ORPHA:79098 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Hepatic cysts, Absence of renal corticomedullary differentiation, Pancreatic... |
OMIM:263200 |
Thymic Neuroendocrine Tumor |
|
Calcium nephrolithiasis, Hypercalcemia, Pituitary null cell adenoma, Pancreatic islet cell adenom... |
ORPHA:97289 |
Cone-Rod Dystrophy 17 |
|
Cone/cone-rod dystrophy, Optic disc pallor |
OMIM:615163 |
Thyrocerebrorenal Syndrome |
|
Renal insufficiency, Slurred speech, Euthyroid goiter, Myoclonus, Nonprogressive cerebellar ataxi... |
ORPHA:3327 |
Timothy Syndrome |
|
Prolonged QT interval, Pneumonia, Bronchitis, Patent ductus arteriosus, Ventricular tachycardia, ... |
OMIM:601005 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Decreased number of large peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axona... |
OMIM:617087 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... |
OMIM:260300 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Short humerus, Short femur, Rhizomelia, Hypospadias, Sandal gap, Hypoplasia of the radius, Hypoca... |
OMIM:607143 |
Exercise-Induced Malignant Hyperthermia |
|
Ataxia, Elevated circulating creatine kinase concentration, Hyperkalemia, Oliguria, Dry skin, Hyp... |
ORPHA:466650 |
Developmental And Epileptic Encephalopathy 11 |
|
Hyperkinetic movements, Spastic tetraplegia |
OMIM:613721 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Redundant neck skin, Thyroid lymphangiectasia, Postaxial hand polydactyly, Hypocalcemia, Micropen... |
OMIM:235255 |
Developmental And Epileptic Encephalopathy 69 |
|
Spastic tetraplegia, Hyperkinetic movements, Myoclonus, Dystonia |
OMIM:618285 |
3-Methylglutaconic Aciduria Type 7 |
|
Renal insufficiency, Abnormal pyramidal sign, Renal cyst, Opisthotonus, Nephrocalcinosis, Growth ... |
ORPHA:445038 |
Neutral Lipid Storage Disease With Myopathy |
|
Diabetes mellitus, Hypertriglyceridemia, Short stature, Elevated circulating creatine kinase conc... |
OMIM:610717 |
Peeling Skin Syndrome 2 |
|
Erythema, Scaling skin |
OMIM:609796 |
Short Stature, Dauber-Argente Type |
|
Long toe, Arachnodactyly, Short stature, Decreased fibular diameter, Postnatal growth retardation... |
OMIM:619489 |
Hydrops Fetalis, Nonimmune |
|
Congestive heart failure |
OMIM:236750 |
Cystinosis, Nephropathic |
|
Metaphyseal widening, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hy... |
OMIM:219800 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Tricuspid regurgitation, Myocardial infarction, Coronary artery calcification, Congestive heart f... |
OMIM:614473 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Increased urinary potassium, Renal... |
OMIM:613090 |
Gm1-Gangliosidosis, Type Iii |
|
Opacification of the corneal stroma |
OMIM:230650 |
Rhyns Syndrome |
|
Multicystic kidney dysplasia, Abnormal acetabulum morphology, Hypoplastic ilia, Abnormal long bon... |
ORPHA:140976 |
Fixed Subaortic Stenosis |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Angina pectoris, Congestive heart failure, ... |
ORPHA:3092 |
Bilateral Acute Depigmentation Of The Iris |
|
Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig... |
ORPHA:69736 |
Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Short stature, Renal salt wasting, ... |
OMIM:241200 |
6P22 Microdeletion Syndrome |
|
Patent ductus arteriosus, Finger syndactyly, Clinodactyly |
ORPHA:251046 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Retinal dystrophy, Chorioretin... |
OMIM:251270 |
Retinitis Pigmentosa 70 |
|
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... |
OMIM:615922 |
Chronic Intestinal Pseudoobstruction |
|
Patent ductus arteriosus |
ORPHA:2978 |
Dystonia 11, Myoclonic |
|
Tremor, Torticollis, Writer's cramp, Myoclonus |
OMIM:159900 |
Corneal Dystrophy, Posterior Amorphous |
|
Ectopia pupillae, Iris coloboma, Corneal dystrophy |
OMIM:612868 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Stroke-like episode, Abnormal left vent... |
OMIM:540000 |
Jeune Syndrome |
|
Toe syndactyly, Micromelia, Postaxial hand polydactyly, Aplasia/Hypoplasia of the lungs, Postaxia... |
ORPHA:474 |
Paget Disease Of Bone 2, Early-Onset |
|
Bowing of the long bones, Short femur, Hypercalcemia, Fractures of the long bones, Paraparesis, F... |
OMIM:602080 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Cardiomyopathy, Scapular winging, Dilated cardiomyopathy, Congestive heart failure |
OMIM:608099 |
Woodhouse-Sakati Syndrome |
|
Decreased serum testosterone concentration, Streak ovary, Dystonia, Decreased response to growth ... |
ORPHA:3464 |
Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... |
OMIM:314250 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Short stature, Neonatal epiphyseal stippling, Hip dislocation, Upper limb asymmetry, Epiphyseal s... |
ORPHA:35173 |
Joubert Syndrome 18 |
|
Bowing of the long bones, Trident pelvis, Postaxial polydactyly, Talipes equinovarus, Camptodactyly |
OMIM:614815 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Renal salt wasting, Hyperkalemia, Hyperactive renin-angiotensin system, Hyperaldost... |
OMIM:264350 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Hyperphenylalaninemia, Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Dystonia, Limb ... |
OMIM:233910 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Hepatic cysts, Hypertension, Mitral regurgitation, Polycystic kidney dysplas... |
OMIM:173900 |
Retinitis Pigmentosa 50 |
|
Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal... |
OMIM:613194 |
46,Xy Sex Reversal 4 |
|
Hypergonadotropic hypogonadism, Elevated circulating creatinine concentration, Hydronephrosis, In... |
OMIM:154230 |
Gitelman Syndrome |
|
Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Tubulointerstitial nephriti... |
ORPHA:358 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Cataract, Peripheral retinal avascularization, Rhegmatog... |
ORPHA:891 |
Cranioectodermal Dysplasia 1 |
|
Broad toe, Brachydactyly, Short humerus, Rhizomelia, Single transverse palmar crease, Broad dista... |
OMIM:218330 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Renal insufficiency, Proteinuria, Short stature, Conjugated hyperbilirubi... |
OMIM:208500 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Retinal dystrophy, Remnants of the hyaloid vascular system, Microcornea, Posterior lenticonus, Ch... |
ORPHA:231736 |
Atrial Septal Defect, Ostium Primum Type |
|
First degree atrioventricular block, Atrioventricular block, Fixed splitting of the second heart ... |
ORPHA:99106 |
Partial Atrioventricular Septal Defect |
|
Recurrent respiratory infections, Atrial flutter, Transient ischemic attack, Angina pectoris, Pat... |
ORPHA:1330 |
Mody |
|
Abnormality of the kidney, Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin... |
ORPHA:552 |
Ichthyosis, Congenital, Autosomal Recessive 14 |
|
Erythema, Scaling skin |
OMIM:617571 |
Congenital Primary Aphakia |
|
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Retinal dysplas... |
ORPHA:83461 |
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures |
|
Optic disc pallor, Cerulean cataract |
OMIM:616732 |
Emphysema, Hereditary Pulmonary |
|
Emphysema, Chronic bronchitis |
OMIM:130700 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Macul... |
OMIM:618195 |
Microtriplication 11Q24.1 |
|
Speech apraxia, Short stature, Metatarsus adductus, Hyperlipidemia, Small hand, Genu valgum, Shor... |
ORPHA:289522 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... |
ORPHA:79262 |
Cockayne Syndrome Type 1 |
|
Lower limb spasticity, Renal insufficiency, Proteinuria, Ataxia, Postnatal growth retardation, Tr... |
ORPHA:90321 |
Myoclonus-Cerebellar Ataxia-Deafness Syndrome |
|
Progressive cerebellar ataxia, Progressive gait ataxia, Myoclonus, Intention tremor |
ORPHA:2589 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Long toe, Ureteral duplication, Renal insufficiency, Tapered toe, Elevated circulating creatine k... |
OMIM:608836 |
Infantile Myofibromatosis |
|
Hypercalcemia, Abnormality of the kidney, Hemiplegia/hemiparesis, Skin ulcer, Abnormal metaphysis... |
ORPHA:2591 |
Lesch-Nyhan Syndrome |
|
Renal insufficiency, Hemiplegia/hemiparesis, Hematuria, Hyperuricemia, Spasticity |
ORPHA:510 |
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis |
|
Renal angiomyolipoma, Polycystic kidney dysplasia |
OMIM:600273 |
Retinitis Pigmentosa 28 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:606068 |
Retinitis Pigmentosa 38 |
|
Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy |
OMIM:613862 |
Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... |
OMIM:601494 |
Axenfeld-Rieger Syndrome, Type 3 |
|
Hypoplasia of the iris, Posterior embryotoxon, Ectopia pupillae, Posterior synechiae of the anter... |
OMIM:602482 |
Ophthalmomandibulomelic Dysplasia |
|
Megalocornea, Opacification of the corneal stroma |
OMIM:164900 |
Vitamin D-Dependent Rickets, Type 2A |
|
Bulging epiphyses, Bowing of the legs, Subperiosteal bone resorption, Delayed epiphyseal ossifica... |
OMIM:277440 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Dysmetria, Gait ataxia, Hamme... |
OMIM:618387 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Corneal arcus |
OMIM:245900 |
Scalp Defects-Postaxial Polydactyly Syndrome |
|
Postaxial polydactyly type A |
ORPHA:1003 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Congestive heart failure, Dilated cardiomyopathy, Elbow flexion contracture, Abnormality of the s... |
ORPHA:206546 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Ataxia, Rigidity, Metaphyseal widening, Diaphyseal sclerosis, Spastic tetraplegia, Hypocalcemia, ... |
OMIM:618476 |
Aapoaiv Amyloidosis |
|
Diabetes mellitus, Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid dep... |
ORPHA:439232 |
Retinitis Pigmentosa 26 |
|
Optic disc pallor, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:608380 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Death in infancy, Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Stil... |
OMIM:614922 |
Usher Syndrome, Type Iiib |
|
Optic disc pallor, Bull's eye maculopathy, Attenuation of retinal blood vessels |
OMIM:614504 |
Renal Cysts And Diabetes Syndrome |
|
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... |
OMIM:137920 |
3P25.3 Microdeletion Syndrome |
|
Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered finger, Postaxial polydactyly... |
ORPHA:435638 |
Leber Congenital Amaurosis 16 |
|
Optic disc pallor, Cataract |
OMIM:614186 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Optic disc pallor, Cataract, Macular atrophy, Optic atrophy, Microcornea, Retinopathy |
OMIM:616171 |
Craniofacioskeletal Syndrome |
|
Hypospadias, Short stature, Small hand, Short foot, Hypocalcemia, Short palm, Clinodactyly of the... |
OMIM:300712 |
Leber Congenital Amaurosis 9 |
|
Keratoconus, Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macula... |
OMIM:608553 |
Macrophthalmia, Colobomatous, With Microcornea |
|
Flat cornea, Macular atrophy, Optic disc coloboma, Microcornea, Shallow anterior chamber, Chorior... |
OMIM:602499 |
Char Syndrome |
|
Toe syndactyly, Mesoaxial foot polydactyly, Mesoaxial hand polydactyly, Patent ductus arteriosus,... |
ORPHA:46627 |
Retinitis Pigmentosa 25 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Chori... |
OMIM:602772 |
Immunoneurologic Disorder, X-Linked |
|
Neonatal death, Functional abnormality of the bladder |
OMIM:300076 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Z |
|
Incoordination, Ataxia, Urinary incontinence, Split hand, Abnormal pyramidal sign, Babinski sign,... |
OMIM:616688 |
Pearson Syndrome |
|
Hypoparathyroidism, Renal insufficiency, Diabetes mellitus, Proteinuria, Decreased response to gr... |
ORPHA:699 |
Laurence-Moon Syndrome |
|
Short stature, Ataxia, Abnormality of the hand, Spastic paraplegia, Polydactyly, Micropenis |
OMIM:245800 |
Xanthinuria, Type Ii |
|
Renal insufficiency, Hypouricemia, Xanthinuria, Nephrolithiasis, Hyperxanthinemia, Increased urin... |
OMIM:603592 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Renal insufficiency, Decreased circulating cortisol level, Hypercalcemia, Adrenal h... |
ORPHA:95409 |
Late-Onset Retinal Degeneration |
|
Iris atrophy, Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drus... |
ORPHA:67042 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Myoglobinuria, Distal upper limb muscle weakness, Elevated circulating creatinine concentration, ... |
OMIM:620138 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Hypoplasia of the ulna, Ureteral stenosis, Hydroureter, Ataxia, Babinski sign, Hypercalciuria, Re... |
OMIM:615398 |
Retinitis Pigmentosa 10 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... |
OMIM:180105 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Clubbing, Clubbing of fingers, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:175500 |
Cednik Syndrome |
|
Congestive heart failure, Diffuse palmoplantar hyperkeratosis, Stroke |
ORPHA:66631 |
Renal Coloboma Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal... |
ORPHA:1475 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Dystonia, Ataxia, Clonus, Oculogyric crisis, Rigidity, Chorea, Opisthotonus, Choreoathetosis, Bra... |
ORPHA:13 |
Dopamine Beta-Hydroxylase Deficiency |
|
Elevated urinary dopamine level, Hyperinsulinemia, Elevated circulating creatinine concentration,... |
ORPHA:230 |
Dystonia 28, Childhood-Onset |
|
Torticollis, Short stature, Tremor, Myoclonus, Retrocollis, Dystonia, Oromandibular dystonia, Spa... |
OMIM:617284 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Ataxia, Tremor, Growth delay, Choreoathetosis, Transient hyperphenylalaninemia, Dystonia, Oculomo... |
OMIM:612716 |
Naxos Disease |
|
Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Palmoplantar keratoderma, Paroxys... |
ORPHA:34217 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Tremor, Limb fasciculations, Abnormality of the urinary system, Elevated circulating creatine kin... |
ORPHA:90117 |
Glucose-Galactose Malabsorption |
|
Renal insufficiency, Hypercalcemia, Nephrolithiasis, Hematuria, Hypernatremia |
ORPHA:35710 |
Odontochondrodysplasia 1 |
|
Short metacarpal, Brachydactyly, Short stature, Micromelia, Metaphyseal widening, Flat acetabular... |
OMIM:184260 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Renal insufficiency, Elevated circulating C-reactive protein concentration, Hypoalb... |
ORPHA:247353 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Death in infancy, Arrhythmia, Congestive heart failure |
ORPHA:157973 |
Fanconi Anemia, Complementation Group U |
|
Absent thumb, Absent radius, Patent ductus arteriosus, Hypoplasia of the radius, Aplasia of the 1... |
OMIM:617247 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Resting tremor, Parkinsonism, Rigidity, Urinary urgency, Bradykinesia, Dystonia |
OMIM:605909 |
Wild Type Attr Amyloidosis |
|
Abnormal EKG, Myocardial infarction, Congestive heart failure, Abnormal pulmonary interstitial mo... |
ORPHA:330001 |
Adrenal Hypoplasia, Congenital |
|
Hyponatremia, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypopl... |
OMIM:300200 |
Epidermolytic Hyperkeratosis 1 |
|
Epidermal acanthosis, Scaling skin, Palmoplantar hyperkeratosis |
OMIM:113800 |
Analbuminemia |
|
Patent ductus arteriosus, Recurrent lower respiratory tract infections, Hypotension |
OMIM:616000 |
Intermediate Osteopetrosis |
|
Hypocalcemia, Erlenmeyer flask deformity of the femurs |
ORPHA:210110 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Short stature, Renal hypoplasia/aplasia, Hypertonia, Multiple renal cysts, Abnormal hip bone morp... |
ORPHA:1166 |
Spinocerebellar Ataxia 38 |
|
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus |
OMIM:615957 |
Prune Belly Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Hydroureter, Recurrent urinary tract infection... |
ORPHA:2970 |
Idiopathic Localized Lipodystrophy |
|
Erythema, Scaling skin |
ORPHA:90158 |
Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop... |
OMIM:617222 |
Cartilage-Hair Hypoplasia |
|
Metaphyseal dysplasia, Bowing of the long bones, Rhizomelia, Abnormal distal phalanx morphology o... |
ORPHA:175 |
Atrial Septal Defect 2 |
|
Aortic regurgitation, Patent ductus arteriosus, Mitral regurgitation, Pulmonic stenosis |
OMIM:607941 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Syndactyly, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplasia of the radius, Pulmon... |
OMIM:617895 |
Epilepsy, Progressive Myoclonic, 6 |
|
Tremor, Ataxia, Elevated circulating creatine kinase concentration, Myoclonus |
OMIM:614018 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... |
OMIM:619897 |
Ichthyosis, Congenital, Autosomal Recessive 12 |
|
White scaling skin |
OMIM:617320 |
Maternally-Inherited Diabetes And Deafness |
|
Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure, Arrhythmia |
ORPHA:225 |
Distal 7Q11.23 Microduplication Syndrome |
|
Patent ductus arteriosus, Aortic aneurysm |
ORPHA:261102 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Hip contracture, Scapular winging, Lower limb spasticity, Elevated circulating creatine kinase co... |
OMIM:615290 |
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Death in early adulthood, Right axis deviation, Elevated jugular venous pressure, Congestive hear... |
OMIM:255160 |
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome |
|
Optic atrophy |
ORPHA:2773 |
Dentatorubral-Pallidoluysian Atrophy |
|
Ataxia, Parkinsonism, Chorea, Choreoathetosis, Myoclonus, Dystonia |
OMIM:125370 |
Polysyndactyly With Cardiac Malformation |
|
Stillbirth, Hepatic cysts, Renal cyst |
OMIM:263630 |
Dowling-Degos Disease 4 |
|
Epidermal acanthosis |
OMIM:615696 |
Parkes Weber Syndrome |
|
Abnormal femoral metaphysis morphology, Skin ulcer, Paraplegia, Nephrotic syndrome, Hypertrophy o... |
ORPHA:90307 |
Optic Atrophy 6 |
|
Optic atrophy |
OMIM:258500 |
Galactosialidosis |
|
Conjunctival telangiectasia, Cherry red spot of the macula, Opacification of the corneal stroma |
OMIM:256540 |
Keratoconus Posticus Circumscriptus |
|
Keratoconus, Central posterior corneal opacity |
OMIM:244600 |
Irvan Syndrome |
|
Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ... |
ORPHA:209943 |
Corneal Hypesthesia With Retinal Abnormalities, Sensorineural Deafness, Unusual Facies, Persistent Ductus Arteriosus, And Mental Retardation |
|
Patent ductus arteriosus |
OMIM:122430 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Proteinuria, Short stature, Tremor, Nephrotic syndrome, Hypertonia, Type I diabetes mellitus, Nep... |
ORPHA:1192 |
Congenital Myopathy 5 With Cardiomyopathy |
|
Sudden cardiac death, Congestive heart failure, Atrioventricular reentrant tachycardia, Dilated c... |
OMIM:611705 |
Spinocerebellar Ataxia 17 |
|
Dystonia, Ataxia, Urinary incontinence, Parkinsonism, Rigidity, Chorea, Dysmetria, Gait ataxia, L... |
OMIM:607136 |
Striatonigral Degeneration, Infantile, Mitochondrial |
|
Incoordination, Poor motor coordination, Clonus, Chorea, Babinski sign, Paroxysmal choreoathetosi... |
OMIM:500003 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Long toe, Hyperextensibility of the finger joints, Hypospadias, Rocker bottom foot, Short stature... |
ORPHA:163979 |
Leber Congenital Amaurosis |
|
Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology, Cataract |
ORPHA:65 |
Multiple Endocrine Neoplasia Type 2 |
|
Paraganglioma of head and neck, Elevated urinary catecholamine level, Hypercalcemia, Thyroid C ce... |
ORPHA:653 |
Morning Glory Disc Anomaly |
|
Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma |
ORPHA:35737 |
Hsd10 Disease, Infantile Type |
|
Spastic tetraparesis, Poor coordination, Spastic diplegia, Hyperammonemia, Choreoathetosis, Hyper... |
ORPHA:391428 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Left ventricular diastolic dysfun... |
OMIM:618052 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Hypergonadotropic hypogonadism, Ataxia, Tremor, Elevated circulating phytanic acid concentration,... |
OMIM:614307 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Micromelia, Postaxial ... |
OMIM:614091 |
Osteopetrosis, Autosomal Recessive 5 |
|
Short stature, Clonus, Flared metaphysis, Spastic tetraplegia, Growth delay, Hypertonia, Stillbir... |
OMIM:259720 |
Orofaciodigital Syndrome Xvii |
|
Short stature, Short middle phalanx of the 2nd finger, Partial duplication of thumb phalanx, Cent... |
OMIM:617926 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Patent ductus arteriosus, Hypertrophic cardiomyopathy, Bradycardia |
OMIM:616276 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short long bone, Pulmona... |
OMIM:615503 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Elevated circulating creatinine concentration, Hypoalbuminemia, Talipes equinovarus, Neonatal dea... |
OMIM:608104 |
Tangier Disease |
|
Facial diplegia, Peripheral axonal neuropathy, Peripheral demyelination, Opacification of the cor... |
OMIM:205400 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Increased urine alpha-ketoglutarate concentration, Spastic tetraparesis, Lacticaciduria, Hypergly... |
OMIM:605711 |
Meckel Syndrome, Type 10 |
|
Ulnar deviation of the hand, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot po... |
OMIM:614175 |
Charcot-Marie-Tooth Disease, Axonal, Type 2F |
|
Claw hand deformity, Upper limb amyotrophy, Fasciculations, Hyporeflexia of upper limbs, Ulnar claw |
OMIM:606595 |
Nephronophthisis 3 |
|
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... |
OMIM:604387 |
Facial Onset Sensory And Motor Neuronopathy |
|
Fasciculations |
ORPHA:85162 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Short stature, Single transverse palmar crease, Unilateral renal agenesis, Bifid distal phalanx o... |
OMIM:618419 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu... |
OMIM:613092 |
Hypophosphatemic Bone Disease |
|
Bowing of the legs, Short stature, Hypophosphatemia |
OMIM:146350 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1574 |
X-Linked Agammaglobulinemia |
|
Short stature, Hypocalcemia, Skin ulcer |
ORPHA:47 |
Femoral-Facial Syndrome |
|
Short femur, Short stature, Maternal diabetes, Renal hypoplasia/aplasia, Long penis, Coxa vara, A... |
ORPHA:1988 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... |
ORPHA:300751 |
Spastic Ataxia 2, Autosomal Recessive |
|
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... |
OMIM:611302 |
Verrucous Hemangioma |
|
Epidermal acanthosis |
ORPHA:464318 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Transient ischemic attack, Cardiac arrest, First degree atrioventricular block, Sudden cardiac de... |
OMIM:115197 |
Retinitis Pigmentosa 56 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... |
OMIM:613581 |
Opsismodysplasia |
|
Short metacarpal, Rhizomelia, Squared iliac bones, Hypoplastic pubic bone, Flat acetabular roof, ... |
OMIM:258480 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Broad distal phalanx of finger, Sandal gap, Postaxial polydactyly |
OMIM:615761 |
Bathing Suit Ichthyosis |
|
Autoamputation of digits, Epidermal acanthosis, Palmoplantar hyperkeratosis, Palmoplantar scaling... |
ORPHA:100976 |
Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... |
ORPHA:293603 |
Atransferrinemia |
|
Congestive heart failure |
OMIM:209300 |
Attrv122I Amyloidosis |
|
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Congestive heart failure, Hy... |
ORPHA:85451 |
Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Short humerus, Micromelia, Postaxial hand polydactyly, Split hand, Abnormality of the elbow, Apla... |
ORPHA:2491 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Opacification of the corneal stroma |
OMIM:601356 |
Hypokalemic Tubulopathy And Deafness |
|
Hyperaldosteronism, Increased circulating renin level, Renal salt wasting |
OMIM:619406 |
Osteopetrosis, Autosomal Recessive 1 |
|
Femur fracture, Flared metaphysis, Coxa vara, Hypocalcemia, Facial paralysis |
OMIM:259700 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Postural tremor, Action tremor, Gait ataxia, Ne... |
OMIM:254900 |
Neuromyotonia And Axonal Neuropathy, Autosomal Recessive |
|
Elevated circulating creatine kinase concentration, Fasciculations |
OMIM:137200 |
Phosphoserine Aminotransferase Deficiency |
|
Hypertonia, Hypoglycinemia, Myoclonus, Hyposerinemia |
OMIM:610992 |
Retinitis Pigmentosa 88 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... |
OMIM:618826 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Congestive heart failure |
OMIM:616794 |
Aorta Coarctation |
|
Pseudocoarctation of the aorta, Congestive heart failure, Patent ductus arteriosus, Hypoplastic a... |
ORPHA:1457 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Arachnodactyly, Postaxial polydactyly, Tapered finger, Genu valgum, Clinodactyly of the 5th finge... |
OMIM:619721 |
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Short stature, Stage 5 chronic kidney disease, Short long bone, Polydactyly, Hepatic cysts, Brach... |
OMIM:613819 |
Ichthyosis With Confetti |
|
Short stature, Clubbing, Scaling skin, Palmoplantar hyperkeratosis |
OMIM:609165 |
Baker-Gordon Syndrome |
|
Ataxia, Involuntary movements, Choreoathetosis, Hyperkinetic movements, Dystonia, Athetoid cerebr... |
OMIM:618218 |
Acrokeratosis Verruciformis |
|
Punctate palmoplantar hyperkeratosis, Epidermal acanthosis |
OMIM:101900 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s... |
OMIM:602522 |
Hypomelia With Mullerian Duct Anomalies |
|
Postaxial hand polydactyly, Split hand |
OMIM:146160 |
Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory anom... |
OMIM:120200 |
Epilepsy, Progressive Myoclonic, 9 |
|
Short thumb, Gait ataxia, Myoclonus, Action myoclonus, Frequent falls |
OMIM:616540 |
Retinitis Pigmentosa 73 |
|
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... |
OMIM:616544 |
Pauci-Immune Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... |
ORPHA:93126 |
Epilepsy, Progressive Myoclonic, 11 |
|
Rigidity, Ataxia, Myoclonus, Intention tremor |
OMIM:618876 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Progressive extrapyramidal muscular rigidity, Limb apraxia, Involuntary movements, Tremor, Rigidi... |
ORPHA:240103 |
Nephronophthisis 4 |
|
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... |
OMIM:606966 |
Bardet-Biedl Syndrome 6 |
|
Syndactyly, Postaxial polydactyly |
OMIM:605231 |
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Methylmalonic acidemia, Short stature, Elevated circulating creatine kinase concentration, Methyl... |
OMIM:612073 |
Refractory Celiac Disease |
|
Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia |
ORPHA:398063 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Hyperphosphaturia, Abnormality of renal excretion, Renal hypophosphatemia, Hypocalcemic tetany, S... |
ORPHA:289176 |
Retinitis Pigmentosa 89 |
|
Postaxial polydactyly |
OMIM:618955 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Cataract, Optic atrophy, Macular degeneration, Rod-cone dystrophy, Retinal degeneration |
OMIM:204200 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Hypoammonemia, Clonus, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, ... |
ORPHA:534 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Premature pubarche, Short stature, Premature thelarche, Ren... |
ORPHA:90795 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Optic atrophy, Developmental cataract, Pigmentary retinopathy, Posterior synechiae of the anterio... |
OMIM:613154 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Focal dystonia, Clumsiness, Limb... |
ORPHA:216873 |
Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Increased circulating very long-chain fatty acid concentration, Polycystic kidney dysplasia, Epip... |
OMIM:614859 |
Lupus Erythematosus Tumidus |
|
Scaling skin |
ORPHA:90283 |
Autosomal Recessive Dopa-Responsive Dystonia |
|
Generalized dystonia, Ataxia, Parkinsonism, Postural tremor, Oculogyric crisis, Rigidity, Babinsk... |
ORPHA:101150 |
Spinocerebellar Ataxia 48 |
|
Ataxia, Urinary incontinence, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia... |
OMIM:618093 |
Biemond Syndrome Type 2 |
|
Hypogonadotropic hypogonadism, Hypospadias, Short stature, Preaxial polydactyly, Hypogonadism, De... |
ORPHA:141333 |
Nephronophthisis 1 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:256100 |
Laurin-Sandrow Syndrome |
|
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, A... |
OMIM:135750 |
Infantile-Onset Spinocerebellar Ataxia |
|
Abnormality of the autonomic nervous system, Optic atrophy |
ORPHA:1186 |
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Paroxysmal dystonia, Writer's cramp, Hand tremor, Myoclonus |
OMIM:608105 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Varicose veins, Patent ductus arteriosus, Peripheral arterial stenosis |
OMIM:126320 |
Congenital Pulmonary Lymphangiectasia |
|
Tricuspid regurgitation, Congestive heart failure, Pulmonic stenosis, Pulmonary arterial hyperten... |
ORPHA:2414 |
Glut1 Deficiency Syndrome 1 |
|
Paroxysmal dystonia, Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Myoclonus, S... |
OMIM:606777 |
Relapsing Fever |
|
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... |
ORPHA:91547 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Hyperthyroidism, Abnormality of the endocrine system, Abnormal blood ion concentration, Thyroidit... |
ORPHA:37042 |
Riddle Syndrome |
|
Short stature, Ataxia, Elevated circulating alpha-fetoprotein concentration, Erythema, Enuresis n... |
ORPHA:420741 |
Combined Oxidative Phosphorylation Deficiency 22 |
|
Congestive heart failure, Pulmonary arterial hypertension |
OMIM:616045 |
Mccune-Albright Syndrome |
|
Abnormal endocrine physiology, Hyperphosphaturia, Hyperthyroidism, Elevated circulating growth ho... |
ORPHA:562 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Elevated circulating creatine kinase concentration, Tremor, Tongue fasciculations, Myoclonus, Fre... |
OMIM:159950 |
Galloway-Mowat Syndrome 10 |
|
Diffuse mesangial sclerosis, Arachnodactyly, Proteinuria, Stage 5 chronic kidney disease, Congeni... |
OMIM:619609 |
Lipoid Congenital Adrenal Hyperplasia |
|
Congenital adrenal hyperplasia, Hypospadias, Adrenogenital syndrome, Renal salt wasting |
OMIM:201710 |
Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy, ... |
OMIM:613426 |
Celiac Disease, Susceptibility To, 1 |
|
Short stature, Ataxia, Postnatal growth retardation, Thyroiditis, Hypocalcemia, Delayed puberty, ... |
OMIM:212750 |
Corneal Dystrophy, Posterior Polymorphous, 3 |
|
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata |
OMIM:609141 |
Adamantinoma |
|
Hypercalcemia |
ORPHA:55881 |
Prune Belly Syndrome |
|
Patent ductus arteriosus, Hydroureter, Congenital posterior urethral valve, Hydronephrosis |
OMIM:100100 |
Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616187 |
Absence Of The Pulmonary Artery |
|
Recurrent respiratory infections, Abnormal EKG, Atrial flutter, Abnormal coronary artery morpholo... |
ORPHA:980 |
Retinitis Pigmentosa 72 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Perip... |
OMIM:616469 |
Congenital Disorder Of Glycosylation, Type In |
|
Short stature, Ataxia, Myoclonus, Spasticity, Adducted thumb |
OMIM:612015 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Dystonia, Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrapy... |
ORPHA:71277 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Hypercalcemia, Urinary incontinence, Tapered finger, Unilateral radial aplasia, Abnormality of th... |
ORPHA:476126 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Radial bowing, Single transverse palmar crease, Micromelia, Postaxial polydactyly, Ulnar bowing, ... |
OMIM:617866 |
Familial Hypoaldosteronism |
|
Hyponatremia, Decreased urinary potassium, Renal salt wasting, Hyperkalemia, Proximal renal tubul... |
ORPHA:427 |
Nephronophthisis 15 |
|
Polydactyly, Nephronophthisis |
OMIM:614845 |
Tarp Syndrome |
|
Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Hypoplasia of the rad... |
OMIM:311900 |
Charcot-Marie-Tooth Disease Type 1B |
|
Decreased nerve conduction velocity, Peripheral axonal neuropathy, Abnormal pupil morphology, Per... |
ORPHA:101082 |
Parkinson Disease 14, Autosomal Recessive |
|
Eyelid apraxia, Axial dystonia, Resting tremor, Elevated circulating creatine kinase concentratio... |
OMIM:612953 |
Idiopathic Bronchiectasis |
|
Myocardial infarction, Respiratory tract infection, Emphysema, Clubbing, Bronchiectasis, Acute in... |
ORPHA:60033 |
Joubert Syndrome 24 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Talipes equinovarus |
OMIM:616654 |
Retinitis Pigmentosa 19 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:601718 |
Coats Disease |
|
Exudative retinal detachment, Leukocoria, Retinal telangiectasia |
OMIM:300216 |
Lesch-Nyhan Syndrome |
|
Short stature, Hip dislocation, Nephrolithiasis, Hyperuricosuria, Nephrocalcinosis, Opisthotonus,... |
OMIM:300322 |
Babesiosis |
|
Recurrent pharyngitis, Myocardial infarction, Congestive heart failure, Clinodactyly of the 5th toe |
ORPHA:108 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Hypergonadotropic hypogonadism, Urinary incontinence, Ataxia, Tremor, Abnormal pyramidal sign, Dy... |
OMIM:617145 |
Epilepsy, Progressive Myoclonic, 1B |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus |
OMIM:612437 |
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:2246 |
Congenital Left Ventricular Aneurysm |
|
Congestive heart failure, Arrhythmia, Abnormal ST segment, Abnormal T-wave |
ORPHA:1055 |
Tako-Tsubo Cardiomyopathy |
|
Abnormal coronary artery morphology, Prolonged QTc interval, Mildly reduced left ventricular ejec... |
ORPHA:66529 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyrotoxicosis with toxic sing... |
ORPHA:79102 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Patent ductus arteriosus, Hypospadias |
OMIM:618330 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Patent ductus arteriosus, Midshaft hypospadias, Renal hypoplasia/aplasia |
ORPHA:2863 |
Peripartum Cardiomyopathy |
|
Tachycardia, Right ventricular failure, Cardiogenic shock, Congestive heart failure, Dilated card... |
ORPHA:563 |
Spinocerebellar Ataxia, Autosomal Recessive 10 |
|
Babinski sign, Dysmetria, Gait ataxia, Limb ataxia, Fasciculations, Truncal ataxia, Intention tremor |
OMIM:613728 |
Carpenter Syndrome 1 |
|
Duplication of the proximal phalanx of the hallux, Clinodactyly of the 5th finger, Genu varum, Ap... |
OMIM:201000 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Anuria, Diabetes mellitus, Hyperkalemia, Oliguria, Hemiparesis, Hypocalcemia, Pallo... |
ORPHA:544482 |
Immune-Mediated Necrotizing Myopathy |
|
Scapular winging, Raynaud phenomenon, Congestive heart failure, Myocarditis, Abnormal pulmonary i... |
ORPHA:206569 |
D-Glyceric Aciduria |
|
Increased circulating free fatty acid level, Chorea, Nonketotic hyperglycinemia, Hyperglycinuria,... |
ORPHA:941 |
Wild Type Abeta2M Amyloidosis |
|
Gastrointestinal hemorrhage, Congestive heart failure, Abnormal shoulder morphology, Arrhythmia, ... |
ORPHA:85446 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Short stature, Ataxia, Tremor, Small hand, Truncal ataxia, Dysmetria, Gait ataxia, Short foot, Dy... |
OMIM:610185 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Elevated uri... |
OMIM:618049 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Increased circulating very long-chain fatty aci... |
OMIM:617916 |
Amyloidosis, Primary Localized Cutaneous, 1 |
|
Dry skin, Scaling skin |
OMIM:105250 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Aortic regurgitation, Tricuspid regurgitation, Patent ductus arteriosus, Reduced left ventricular... |
OMIM:616501 |
Hereditary Fructose Intolerance |
|
Renal insufficiency, Chronic kidney disease, Hypermagnesemia, Growth delay, Hyperuricemia, Hypoph... |
ORPHA:469 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ... |
OMIM:613091 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Truncus arteriosus, Hepatic cysts, Stillbirth, Aortic valve stenosis, Pulmonic stenosis, Hypertro... |
OMIM:615415 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Lower limb spasticity, Short stature, Absent pubertal growth spurt, Urinary incontinence, Ataxia,... |
ORPHA:464282 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Descending thoracic aorta aneurysm, Abnormal left ventricular function, Abdominal aortic aneurysm... |
ORPHA:91387 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Ataxia, Parkinsonism, Tremor, Chorea, Growth delay, Hypertonia, Hyperkinetic movements, Dystonia,... |
OMIM:619738 |
Joubert Syndrome 27 |
|
Ataxia, Dilatation of the renal pelvis, Gait ataxia, Polydactyly, Oculomotor apraxia |
OMIM:617120 |
Hypophosphatasia |
|
Bowing of the long bones, Abnormal metaphysis morphology, Hypercalcemia, Short stature |
ORPHA:436 |
Dystonia 15, Myoclonic |
|
Dystonia, Writer's cramp, Myoclonus |
OMIM:607488 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Decreased HDL cholesterol concentration, Sandal gap, Urinary incontinence, Short stature, Small h... |
OMIM:618885 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Equinus calcaneus, Babinski sign, Hypocalcemia, Frequent falls |
ORPHA:746 |
Primary Hyperoxaluria |
|
Hyperoxaluria, Aciduria, Calcium oxalate nephrolithiasis, Chronic kidney disease, Stage 5 chronic... |
ORPHA:416 |
Hemochromatosis, Type 2A |
|
Congestive heart failure, Arrhythmia, Dilated cardiomyopathy, Cardiomyopathy |
OMIM:602390 |
Coach Syndrome 1 |
|
Ataxia, Unilateral renal agenesis, Multiple small medullary renal cysts, Postaxial hand polydacty... |
OMIM:216360 |
Spinocerebellar Ataxia 40 |
|
Ataxia, Tremor, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadochokinesis, Spastic paraparesis, In... |
OMIM:616053 |
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:3270 |
Foxg1 Syndrome |
|
Short stature, Choreoathetosis, Severe postnatal growth retardation, Hyperkinetic movements, Myoc... |
ORPHA:561854 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
|
Oculogyric crisis, Chorea, Hyperkinetic movements, Myoclonus, Dystonia, Spasticity |
OMIM:614254 |
Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Sup... |
ORPHA:99103 |
Neuronal Intestinal Pseudoobstruction |
|
Patent ductus arteriosus |
ORPHA:99811 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
2-5 finger syndactyly, Congenital hip dislocation, Single transverse palmar crease, Adrenal hypop... |
OMIM:308050 |
Dandy-Walker Malformation With Postaxial Polydactyly |
|
Patent ductus arteriosus, Aortic valve stenosis, Postaxial hand polydactyly, Vascular dilatation |
OMIM:220220 |
Bardet-Biedl Syndrome 22 |
|
Postaxial foot polydactyly, Polydactyly |
OMIM:617119 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Pheochromocytoma, Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level |
OMIM:171420 |
Glutathionuria |
|
Urinary incontinence, Tremor, Dysdiadochokinesis, Glutathionuria, Action tremor |
OMIM:231950 |
Crigler-Najjar Syndrome Type 1 |
|
Tremor, Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia |
ORPHA:79234 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Myoclonus, Dystonia, Parkinsonism... |
ORPHA:314632 |
Eales Disease |
|
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... |
ORPHA:40923 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Tremor, Myoclonus, Dystonia |
OMIM:619651 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Clinodactyly of the 5th finger, Patent ductus arteriosus, Overlapping toe |
OMIM:618974 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:241520 |
Isolated Right Ventricular Hypoplasia |
|
Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Congest... |
ORPHA:439 |
Spinocerebellar Ataxia 2 |
|
Ataxia, Parkinsonism, Urinary incontinence, Postural tremor, Rigidity, Babinski sign, Dysmetria, ... |
OMIM:183090 |
Recon Progeroid Syndrome |
|
Arachnodactyly, Short stature, Proximal placement of thumb, Growth delay, Scaling skin, Long thum... |
OMIM:620370 |
Meckel Syndrome 13 |
|
Polycystic kidney dysplasia |
OMIM:617562 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6 |
|
Weakness of the intrinsic hand muscles, Triceps weakness, Fasciculations |
OMIM:615575 |
Spinocerebellar Ataxia Type 2 |
|
Postural tremor, Parkinsonism, Kinetic tremor, Chorea, Gait ataxia, Progressive cerebellar ataxia... |
ORPHA:98756 |
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency |
|
Optic atrophy, Cataract, Sensory axonal neuropathy |
ORPHA:329314 |
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Clinodactyly of the 5th finger, Patent ductus arteriosus, Abnormal aortic morphology, Broad thumb |
ORPHA:2001 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Hypertrophic cardiomyopathy |
OMIM:618234 |
Retinitis Pigmentosa 43 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Pigme... |
OMIM:613810 |
Familial Glucocorticoid Deficiency |
|
Hyponatremia, Decreased circulating dehydroepiandrosterone concentration, Recurrent urinary tract... |
ORPHA:361 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Short stature, Decreased response to growth hormone stimulation test, Single transverse palmar cr... |
ORPHA:457240 |
Polymyositis |
|
Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar... |
ORPHA:732 |
Orofaciodigital Syndrome Vi |
|
Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxial polydactyly, Pr... |
OMIM:277170 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Patent ductus arteriosus, Hydronephrosis |
OMIM:619797 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Xanthine nephrolithiasis, Hypouricemia, Spastic tetraparesis, Increased urinary sulfite level, Ab... |
OMIM:252150 |
Monomelic Amyotrophy |
|
Tremor, Distal upper limb amyotrophy, Abnormality of the upper limb, Fasciculations |
ORPHA:65684 |
Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Emphysema, Arachnodactyly, Hip dislocation |
OMIM:614100 |
Retinitis Pigmentosa 79 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin... |
OMIM:617460 |
Peeling Skin Syndrome 1 |
|
Palmoplantar hyperhidrosis, Scaling skin, Short stature |
OMIM:270300 |
Mucolipidosis Iii Gamma |
|
Opacification of the corneal stroma |
OMIM:252605 |
Greig Cephalopolysyndactyly Syndrome |
|
Broad hallux phalanx, Broad hallux, 1-3 toe syndactyly, Preaxial hand polydactyly, Postaxial hand... |
OMIM:175700 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Decreased thyroid-stimulating hormone level, Hyperthyroidism, Increased circulating free T4 conce... |
OMIM:613239 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypoparathyroidism, Hypertriglyceridemia, Hypercalcemia, Precocious puberty, Hypercalciuria, Rena... |
ORPHA:369837 |
Retinitis Pigmentosa 78 |
|
Optic disc pallor, Cystoid macular edema |
OMIM:617433 |
Camptobrachydactyly |
|
Syndactyly, Short toe, Hand polydactyly, Congenital finger flexion contractures, Brachydactyly |
OMIM:114150 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Ataxia, Tremor, Babinski sign, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclonus |
OMIM:615362 |
Addison Disease |
|
Hyponatremia, Hypoparathyroidism, Decreased circulating cortisol level, Hypercalcemia, Adrenal ca... |
ORPHA:85138 |
Ssr4-Cdg |
|
Patent ductus arteriosus, Horseshoe kidney |
ORPHA:370927 |
Retinitis Pigmentosa 14 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Retin... |
OMIM:600132 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Patent ductus arteriosus, Anomalous origin of right pulmonary artery from ascending aorta, Coarct... |
OMIM:610338 |
Coloboma, Ocular, Autosomal Recessive |
|
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma |
OMIM:216820 |
Maternal Uniparental Disomy Of Chromosome X |
|
Cubitus valgus, Camptodactyly of finger, Rocker bottom foot, Congestive heart failure |
ORPHA:261519 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
Tremor, Myoclonus |
OMIM:615127 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Proximal muscle weakness in upper limbs, Lower limb spasticity, Elevated circulating creatine kin... |
OMIM:613954 |
Infantile Sialic Acid Storage Disease |
|
Congestive heart failure, Metaphyseal irregularity, Death in childhood |
OMIM:269920 |
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive |
|
Epidermal acanthosis |
OMIM:615028 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Tremor, Babinski sign, Limb ataxia, Ankle clonus, Hypogonadism, Truncal ataxia, Spasticity |
OMIM:615768 |
Epidermolytic Palmoplantar Keratoderma |
|
Epidermal acanthosis, Interphalangeal joint contracture of finger, Diffuse palmoplantar hyperkera... |
ORPHA:2199 |
Cutaneous Mastocytoma |
|
Erythema, Scaling skin |
ORPHA:79455 |
Joubert Syndrome 15 |
|
Ataxia, Preaxial polydactyly, Nephronophthisis, Oculomotor apraxia, Micropenis |
OMIM:614464 |
Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... |
OMIM:146510 |
Mucolipidosis Iii Alpha/Beta |
|
Opacification of the corneal stroma, Retinal degeneration, Retinopathy, Hyperopic astigmatism |
OMIM:252600 |
Desminopathy |
|
Supraventricular arrhythmia, Sudden cardiac death, Congestive heart failure, Atrioventricular blo... |
ORPHA:98909 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Cataract, Brushfield spots, Optic nerve dysplasia, Pigmentary retinopathy, Opacification of the c... |
OMIM:214110 |
Aortic Arch Interruption |
|
Aortic regurgitation, Shock, Tricuspid regurgitation, Blood pressure substantially higher in arms... |
ORPHA:2299 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Scapular winging, Urinary incontinence, Parkinsonism, Tremor, Intrinsic hand muscle atrophy, Fasc... |
ORPHA:329478 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Death in infancy, Desquamative interstitial pneumonitis, Clubbing, Intraalveolar phospholipid acc... |
OMIM:265120 |
Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad... |
ORPHA:2378 |
Acute Generalized Exanthematous Pustulosis |
|
Renal insufficiency, Acantholysis, Scaling skin, Skin vesicle, Purpura |
ORPHA:293173 |
Spinocerebellar Ataxia Type 37 |
|
Tremor, Cogwheel rigidity, Dysdiadochokinesis, Myoclonus, Truncal ataxia, Limb dysmetria |
ORPHA:363710 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Spasticity, Choreo... |
OMIM:606159 |
Herpes Simplex Virus Stromal Keratitis |
|
Keratitis, Deep anterior chamber, Herpetiform corneal ulceration, Corneal stromal edema, Corneal ... |
ORPHA:137599 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Paroxysmal atrial tachycardia, Congestive heart failure, Stroke, Cardiac arrest |
ORPHA:49827 |
Thanatophoric Dysplasia |
|
Micromelia, Abnormal sacroiliac joint morphology, Patent ductus arteriosus, Hip dysplasia, Pulmon... |
ORPHA:2655 |
Igg4-Related Thyroid Disease |
|
Nodular goiter, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland morphology, Vocal co... |
ORPHA:64744 |
Acral Self-Healing Collodion Baby |
|
Palmoplantar scaling skin, Erythema, Lack of skin elasticity |
ORPHA:281127 |
Familial Atrial Myxoma |
|
Tricuspid regurgitation, Congestive heart failure, Heart murmur, Dilatation of the cerebral arter... |
ORPHA:615 |
Spinocerebellar Ataxia With Epilepsy |
|
Tremor, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis, Myoclonus, Dys... |
ORPHA:254881 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Rhizomelia, Postaxial polydactyly, Patent ductus arteriosus, Squared iliac bones, Preaxial polyda... |
OMIM:616300 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Long toe, Recurrent respiratory infections, Overlapping toe, Long fingers, Patent ductus arterios... |
OMIM:618316 |
Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... |
ORPHA:97292 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type |
|
Hypertonia, Short stature, Limb tremor, Myoclonus |
OMIM:300699 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Tremor, Testicular atrophy, Elevated circulating creatine kinase concentration, Fasciculations |
OMIM:313200 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Microcornea, Anterior synechiae of the anterior chamber, Iris coloboma, Iris hypopigmentation |
ORPHA:3214 |
Recombinant Chromosome 8 Syndrome |
|
Patent ductus arteriosus, Pulmonic stenosis, Double outlet right ventricle, Tetralogy of Fallot, ... |
OMIM:179613 |
Ebstein Malformation Of The Tricuspid Valve |
|
Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Patent ductus arteriosus, Ri... |
ORPHA:1880 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Patent ductus arteriosus, Hypertension, Micropenis, Tachycardia |
OMIM:613870 |
Cardiomyopathy, Dilated, 1Y |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... |
OMIM:611878 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Renal agenesis, Hypospadias, Patent ductus arteriosus, Renal hypoplasia, Micropenis |
ORPHA:171839 |
Usher Syndrome, Type 1M |
|
Drusen, Optic disc pallor |
OMIM:618632 |
Developmental And Epileptic Encephalopathy 40 |
|
Spastic tetraparesis, Choreoathetosis, Myoclonus, Intrauterine growth retardation, Spasticity |
OMIM:617065 |
Meckel Syndrome 14 |
|
Syndactyly, Bowing of the long bones, Tricuspid regurgitation, Postaxial polydactyly, Postaxial h... |
OMIM:619879 |
Orofaciodigital Syndrome Viii |
|
Syndactyly, Short tibia, Recurrent aspiration pneumonia, Polydactyly |
OMIM:300484 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Proteinuria, Avascular necrosis of the capital femoral epiphysis, Elevated circulating creatinine... |
ORPHA:247691 |
Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Urinary incontinence, Babinski sign, Abnormal pyramidal sign, Fasciculations, Spasticity |
OMIM:602099 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Proteinuria, Abnormal circulating fatty-acid concentration, Tremor, Hyperinsulinemia, Renal Fanco... |
ORPHA:263455 |
Hyperparathyroidism 1 |
|
Primary hyperparathyroidism, Hypercalcemia |
OMIM:145000 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Overriding aorta, Single transverse palmar crease, Patent ductus arteriosus, 2-3 toe syndactyly, ... |
ORPHA:3304 |
Loeffler Endocarditis |
|
Aortic regurgitation, Pericarditis, Left ventricular diastolic dysfunction, Congestive heart fail... |
ORPHA:75566 |
Aarskog-Scott Syndrome |
|
Finger syndactyly, Single transverse palmar crease, Camptodactyly of finger, Congestive heart fai... |
ORPHA:915 |
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Clinodactyly of the 5th finger, Patent ductus arteriosus |
ORPHA:1516 |
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
Hallux valgus, Broad hallux, Tapered finger, Long fingers, Short toe, Patent ductus arteriosus, 2... |
OMIM:618659 |
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Choreoathetosis, Hyperkinetic movements, Myoclonus, Dystonia |
OMIM:618497 |
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities |
|
Optic disc pallor, Retinal dystrophy |
OMIM:616079 |
Cardioacrofacial Dysplasia 1 |
|
Limb undergrowth, Postaxial polydactyly, Genu valgum |
OMIM:619142 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
Autosomal Spastic Paraplegia Type 58 |
|
Spastic ataxia, Torticollis, Short stature, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyram... |
ORPHA:397946 |
Thanatophoric Dysplasia Type 1 |
|
Bowing of the long bones, Short femur, Micromelia, Hypoplastic ilia, Abnormal sacroiliac joint mo... |
ORPHA:1860 |
Neurodevelopmental Disorder With Involuntary Movements |
|
Involuntary movements, Chorea, Athetosis, Hyperkinetic movements, Dystonia, Spasticity |
OMIM:617493 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Intention tremor, Myoclonus, Erlenmeyer flask deformity of the femurs, Hypocholesterolemia |
OMIM:610539 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Short stature, Tremor, Hyperkinetic movements, Microphallus, Spasticity, Hip subluxation |
OMIM:300957 |
Li-Campeau Syndrome |
|
Patent ductus arteriosus, Micropenis |
OMIM:619189 |
Hepatic Lipase Deficiency |
|
Corneal arcus |
OMIM:614025 |
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Dystonia, Ataxia, Head titubation, Dysmetria, Aminoaciduria, Myoclonus, Truncal ataxia |
OMIM:250620 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Short fourth metatarsal, Tibial metaphyseal irregularity, Coxa vara, Flattened femoral head, Shor... |
ORPHA:457395 |
Periventricular Nodular Heterotopia |
|
Aortic regurgitation, Shoulder dislocation, Patent ductus arteriosus, Aortic aneurysm |
ORPHA:98892 |
Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Multiple renal cysts, Renal cyst |
OMIM:614883 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Pigmentary retinopathy, Axenfeld anomaly, Opacification of the corneal stroma, Peters anomaly, Oc... |
OMIM:612582 |
Ichthyosis, Annular Epidermolytic, 2 |
|
Erythema, Scaling skin, Palmoplantar hyperkeratosis, Palmoplantar keratoderma |
OMIM:620148 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Postaxial polydactyly |
ORPHA:544254 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Scapular winging, Hypophosphaturia, Clinodactyly of the 2nd finger, Hypocalciuria, Clinodactyly o... |
ORPHA:73223 |
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type) |
|
Ataxia, Parkinsonism, Abnormality of extrapyramidal motor function, Myoclonus |
OMIM:162350 |
Progressive Myoclonic Epilepsy With Dystonia |
|
Abnormal pyramidal sign, Hemiparesis, Abnormality of extrapyramidal motor function, Myoclonus, Dy... |
ORPHA:352596 |
Meacham Syndrome |
|
Death in infancy, Patent ductus arteriosus, Partial anomalous pulmonary venous return, Horseshoe ... |
OMIM:608978 |
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease |
|
Papilledema, Retinal arteriolar constriction |
OMIM:124950 |
Beaulieu-Boycott-Innes Syndrome |
|
Patent ductus arteriosus, Recurrent urinary tract infections, Unilateral renal agenesis, Horsesho... |
OMIM:613680 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Proteinuria, Recurrent myoglobinuria, Elevated circulating creatine kinase concentration, Hypergo... |
OMIM:607426 |
Neurogenic Arthrogryposis Multiplex Congenita |
|
Hip contracture, Rocker bottom foot, Hip dislocation, Elbow flexion contracture, Fasciculations, ... |
ORPHA:1143 |
Truncus Arteriosus |
|
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperlipidemia, Tetraplegia, Hand tremor, Fasciculations, Mildly elevated creatine kinase |
OMIM:604484 |
Hogue-Janssen Syndrome 2 |
|
Deviation of the 5th finger, Hip dysplasia, Broad hallux, Postaxial polydactyly |
OMIM:616362 |
Birt-Hogg-Dube Syndrome 1 |
|
Renal neoplasm, Renal cell carcinoma, Renal cyst |
OMIM:135150 |
Hutchinson-Gilford Progeria Syndrome |
|
Angina pectoris, Myocardial infarction, Precocious atherosclerosis, Congestive heart failure, Pre... |
OMIM:176670 |
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Finger syndactyly, Toe syndactyly, Elbow dislocation, Patent ductus arteriosus, Aplasia/Hypoplasi... |
ORPHA:1112 |
Hypermanganesemia With Dystonia 2 |
|
Hypermanganesemia, Generalized dystonia, Elevated circulating creatine kinase concentration, Park... |
OMIM:617013 |
Myoclonus, Cerebellar Ataxia, And Deafness |
|
Ataxia, Myoclonus |
OMIM:159800 |
Fibrous Dysplasia Of Bone |
|
Abnormal morphology of the radius, Bowing of the long bones, Abnormal pelvis bone morphology, Sho... |
ORPHA:249 |
Macular Dystrophy With Central Cone Involvement |
|
Macular dystrophy, Optic disc pallor, Perifoveal ring of hyperautofluorescence, Bull's eye maculo... |
OMIM:616170 |
Optic Atrophy 5 |
|
Optic disc pallor, Optic atrophy |
OMIM:610708 |
Glaucoma 1, Open Angle, F |
|
Increased cup-to-disc ratio |
OMIM:603383 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Ataxia, Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotei... |
ORPHA:64753 |
Familial Dyskinesia And Facial Myokymia |
|
Congestive heart failure, Dilated cardiomyopathy |
ORPHA:324588 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hypertriglyceridemia, Ataxia, Poor motor coordination, Tremor, Hyperinsulinemia, Abnormal pyramid... |
ORPHA:363400 |
Hydrolethalus Syndrome 2 |
|
Postaxial foot polydactyly, Preaxial foot polydactyly, Postaxial hand polydactyly |
OMIM:614120 |
Epilepsy, Familial Adult Myoclonic, 5 |
|
Tremor, Myoclonus |
OMIM:615400 |
Axial Osteomalacia |
|
Renal cyst |
OMIM:109130 |
Arterial Tortuosity Syndrome |
|
Myocardial infarction, Coxa vara, Clinodactyly of the 5th finger, Arachnodactyly, Pulmonary arter... |
ORPHA:3342 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Opacification of the corneal stroma |
OMIM:215250 |
Chromosome 19Q13.11 Deletion Syndrome, Proximal |
|
Hydroureter, Tapered finger, Postnatal growth retardation, Nephrolithiasis, Hip dysplasia, Talipe... |
OMIM:617219 |
Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Short toe, Preaxia... |
ORPHA:2756 |
Joubert Syndrome 35 |
|
Multicystic kidney dysplasia, Recurrent urinary tract infections, Ataxia, Single transverse palma... |
OMIM:618161 |
Autosomal Recessive Malignant Osteopetrosis |
|
Bowing of the long bones, Tremor, Growth delay, Pallor, Hypocalcemia, Hypophosphatemia, Abnormal ... |
ORPHA:667 |
Congenital Myopathy 8 |
|
Congestive heart failure |
OMIM:618654 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Death in infancy, Renal insufficiency, Partial anomalous pulmonary venous return, Renal cyst, Rig... |
OMIM:617478 |
Benign Adult Familial Myoclonic Epilepsy |
|
Myoclonus, Hand tremor |
ORPHA:86814 |
Ritscher-Schinzel Syndrome 2 |
|
Syndactyly, Broad hallux, Overlapping toe, Camptodactyly of finger, Patent ductus arteriosus, Pul... |
OMIM:300963 |
Osteogenesis Imperfecta, Type Xxii |
|
Bowing of the long bones, Short stature, Abnormal circulating calcium concentration, Slender long... |
OMIM:619795 |
Polymyoclonus, Infantile |
|
Ataxia, Myoclonus |
OMIM:263550 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Short stature, Ataxia, Babinski sign, Spastic diplegia, Myoclonus, Dystonia |
OMIM:619065 |
Martsolf Syndrome 1 |
|
Recurrent respiratory infections, Short metacarpal, Cardiac arrest, Metatarsus adductus, Slender ... |
OMIM:212720 |
Ataxia With Myoclonic Epilepsy And Presenile Dementia |
|
Ataxia, Myoclonus |
OMIM:208700 |
Diffuse Alveolar Hemorrhage |
|
Hematuria, Elevated circulating creatinine concentration, Proteinuria |
ORPHA:90060 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Patent ductus ar... |
OMIM:613834 |
Senior-Loken Syndrome 8 |
|
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Pancreatic cysts, St... |
OMIM:616307 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hypospadias, Renal salt wasting, Increased ci... |
ORPHA:90791 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Scapular winging, Tricuspid regurgitation, Single transverse palmar crease, Micromelia, Monkey wr... |
OMIM:618870 |
Primary Intestinal Lymphangiectasia |
|
Growth delay, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Hypoproteinemia |
ORPHA:90362 |
Thyrocerebroretinal Syndrome |
|
Ataxia, Slurred speech, Myoclonus, Nephritis, Goiter |
OMIM:274240 |
Tetrasomy 15Q26 |
|
Patent ductus arteriosus, Hypoplastic aortic arch, Hydronephrosis, Horseshoe kidney |
OMIM:614846 |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development |
|
Cataract, Band keratopathy |
OMIM:604278 |
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Ataxia, Babinski sign, Gait ataxia, Elevated urine acetoacetic acid level, 3-Methylglutaconic aci... |
OMIM:620089 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Proximal tubulopathy, Hypoalbuminemia, Renal cyst, Hyperinsulinemic hypoglycemia |
OMIM:602579 |
Creutzfeldt-Jakob Disease |
|
Hemiparesis, Extrapyramidal muscular rigidity, Myoclonus, Gait ataxia |
OMIM:123400 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Renal insufficiency, Hyperuricemia, Renal tubular atrophy, Nephropathy, Nephritis, Decreased glom... |
OMIM:162000 |
Cirrhotic Cardiomyopathy |
|
Prolonged QT interval, Elevated jugular venous pressure, Left ventricular diastolic dysfunction, ... |
ORPHA:57777 |
Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Proximal muscle weakness in upper limbs, Scapular winging, Elevated circulating creatine kinase c... |
OMIM:619733 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Xanthine nephrolithiasis, Hypouricemia, Increased urinary sulfite level, Xanthinuria, Spastic tet... |
OMIM:252160 |
Microphthalmia With Limb Anomalies |
|
Toe syndactyly, Sandal gap, Single transverse palmar crease, Capitate-hamate fusion, 2-3 toe cuta... |
OMIM:206920 |
Peeling Skin Syndrome 4 |
|
Palmoplantar keratoderma, Epidermal acanthosis, Scaling skin |
OMIM:607936 |
Congenital Gerbode Defect |
|
Elevated right atrial pressure, Tricuspid regurgitation, Left-to-right shunt, Right ventricular f... |
ORPHA:99095 |
Infantile Spasms Syndrome |
|
Myoclonus |
ORPHA:3451 |
Corticobasal Syndrome |
|
Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Oromotor apr... |
ORPHA:454887 |
Retinitis Pigmentosa 66 |
|
Optic disc pallor, Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Rod-c... |
OMIM:615233 |
Spinocerebellar Ataxia Type 14 |
|
Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus |
ORPHA:98763 |
Verheij Syndrome |
|
Renal agenesis, Short stature, Hip dislocation, Renal hypoplasia, Renal cyst, Growth delay, Short... |
OMIM:615583 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Renal insufficiency, Ataxia, Tremor, Hyperbilirubinemia, Myoglobinuria |
ORPHA:713 |
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Patent ductus arteriosus |
OMIM:615147 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Hemosiderinuria, Renal insufficiency, Proteinuria, Decreased serum iron, Chronic kidney disease, ... |
ORPHA:447 |
Epilepsy, Progressive Myoclonic, 8 |
|
Limb ataxia, Choreoathetosis, Myoclonus, Truncal ataxia, Action myoclonus |
OMIM:616230 |
Osteopetrosis With Renal Tubular Acidosis |
|
Short stature, Elevated circulating creatine kinase concentration, Nephrolithiasis, Proximal rena... |
ORPHA:2785 |
Familial Cutaneous Collagenoma |
|
Congestive heart failure, Angina pectoris, Cardiomyopathy |
ORPHA:53296 |
X-Linked Recessive Ocular Albinism |
|
Hypoplasia of the fovea, Abnormal pupil morphology, Ocular albinism, Astigmatism, Abnormal macula... |
ORPHA:54 |
Feingold Syndrome |
|
Hallux valgus, Toe syndactyly, Patent ductus arteriosus, Deviation of the 2nd finger, Clinodactyl... |
ORPHA:1305 |
Glut1 Deficiency Syndrome 2 |
|
Ataxia, Tremor, Choreoathetosis, Dystonia, Reduced haptoglobin level |
OMIM:612126 |
Senior-Loken Syndrome 9 |
|
Hypoplasia of the femoral head, Stage 5 chronic kidney disease, Tubulointerstitial nephritis, Pol... |
OMIM:616629 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Tremor, Talipes cavus equinovarus, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclo... |
ORPHA:139485 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary venous return |
ORPHA:2184 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Conjugated hyperbilirubinemia, Postnatal growth retardation, Renal cyst, Hyperbilirub... |
ORPHA:79303 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulopathy, Ethylma... |
OMIM:231680 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Aortic regurgitation, Anomalous origin of left coronary artery from the pulmonary artery, Congest... |
ORPHA:2326 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
Overlapping toe, Postaxial polydactyly, Tapered finger |
OMIM:613792 |
Hypermanganesemia With Dystonia 1 |
|
Hypermanganesemia, Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordi... |
OMIM:613280 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |
|
Rod-cone dystrophy, Optic atrophy, Onion bulb formation, Segmental peripheral demyelination/remye... |
OMIM:311070 |
Convulsive Disorder, Familial, With Prenatal Or Early Onset |
|
Myoclonus |
OMIM:217200 |
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome |
|
Babinski sign, Progressive cerebellar ataxia, Lower limb hypertonia, Progressive gait ataxia, Upp... |
ORPHA:254343 |
Psoriasis 2 |
|
Epidermal acanthosis, Scaling skin |
OMIM:602723 |
Craniofacial Dyssynostosis With Short Stature |
|
Patent ductus arteriosus, Hypospadias, Horseshoe kidney |
OMIM:218350 |
Retinitis Pigmentosa 60 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... |
OMIM:613983 |
Restless Legs Syndrome, Susceptibility To, 1 |
|
Myoclonus |
OMIM:102300 |
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia |
|
Ataxia, Urinary incontinence, Myoclonus, Dystonia, Spasticity |
OMIM:620094 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Death in infancy, Congestive heart failure, Dilated cardiomyopathy, Stroke, Death in childhood, H... |
OMIM:611126 |
Multiple Myeloma |
|
Hypercalcemia, Elevated circulating creatinine concentration, Abnormality of the bladder, Nephrot... |
ORPHA:29073 |
Parathyroid Carcinoma |
|
Hyperparathyroidism, Parathyroid carcinoma, Hypercalcemia |
OMIM:608266 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Coronary artery calcification, Myocardial infarction, Carotid artery calcification, Congestive he... |
OMIM:208000 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Cerebral palsy, Short stature, Clonus, Babinski sign, Spastic tetraplegia, Spasticity, Opisthoton... |
OMIM:619847 |
Olmsted Syndrome 1 |
|
Corneal opacity, Opacification of the corneal stroma |
OMIM:614594 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Dystonia, Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bradykinesia, Hypertonia, Hype... |
OMIM:261640 |
C Syndrome |
|
Short metacarpal, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Patent ductus arteriosu... |
OMIM:211750 |
Cutis Laxa-Marfanoid Syndrome |
|
Emphysema, Arachnodactyly, Hip dislocation |
ORPHA:171719 |
Leprechaunism |
|
Postnatal growth retardation, Long penis, Hyperinsulinemia, Hypercalciuria, Central hypothyroidis... |
ORPHA:508 |
Oculofaciocardiodental Syndrome |
|
Short thumb, Patent ductus arteriosus, 2-3 toe syndactyly, Broad palm, Genu valgum, Hammertoe, Fl... |
ORPHA:2712 |
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
|
Hyperkinetic movements |
ORPHA:397933 |
Neurotrophic Keratopathy |
|
Anterior uveitis, Abnormal fifth cranial nerve morphology, Corneal scarring, Corneal stromal edem... |
ORPHA:137596 |
Hypercholesterolemia, Familial, 3 |
|
Corneal arcus |
OMIM:603776 |
Ciliary Dyskinesia, Primary, 40 |
|
Right aortic arch, Patent ductus arteriosus, Interrupted inferior vena cava with azygous continua... |
OMIM:618300 |
Collagenoma, Familial Cutaneous |
|
Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Congestive heart ... |
OMIM:115250 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Death in early adulthood, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycard... |
OMIM:605676 |
Wildervanck Syndrome |
|
Facial palsy, Lens subluxation, Pseudopapilledema |
ORPHA:3456 |
Double Outlet Right Ventricle |
|
Hypoparathyroidism, Aplasia/Hypoplasia of the thymus, Short stature, Hypocalcemia |
ORPHA:3426 |
Retinitis Pigmentosa 1 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:180100 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ... |
ORPHA:26793 |
3-Methylglutaconic Aciduria, Type Viib |
|
Rhizomelia, Ataxia, Tremor, Brachioradialis areflexia, Opisthotonus, Growth delay, Choreoathetosi... |
OMIM:616271 |
Spinocerebellar Ataxia 42 |
|
Spastic ataxia, Ataxia, Urinary incontinence, Tremor, Babinski sign, Abnormal pyramidal sign, Uri... |
OMIM:616795 |
Pseudoxanthoma Elasticum |
|
Accelerated atherosclerosis, Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failu... |
OMIM:264800 |
Ddost-Cdg |
|
Short stature, Tremor, Oromotor apraxia, Primary hypothyroidism, Dry skin, Nephrotic range protei... |
ORPHA:300536 |
Ataxia-Telangiectasia-Like Disorder |
|
Hypergonadotropic hypogonadism, Short stature, Ataxia, Chorea, Dysmetria, Gait ataxia, Dysdiadoch... |
ORPHA:251347 |
Corticosteroid-Binding Globulin Deficiency |
|
Hypokalemia, Decreased circulating cortisol level, Decreased urinary potassium |
OMIM:611489 |
Diaphanospondylodysostosis |
|
Multiple renal cysts |
ORPHA:66637 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Dystonia, Urinary incontinence, Parkinsonism, Tremor, Rigidity, Head titubation, Gait ataxia, Cho... |
OMIM:618877 |
Hemochromatosis, Type 2B |
|
Congestive heart failure, Cardiomyopathy |
OMIM:613313 |
Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Dry skin, Epidermal acanthosis, Scaling skin, Palmoplantar keratoderma |
OMIM:612281 |
Hypercholesterolemia, Familial, 1 |
|
Corneal arcus |
OMIM:143890 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Polydactyly, Hypospadias, Hypoplastic ischia, Intrauterine growth retardation |
OMIM:616910 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Tremor, Myoclonus |
OMIM:613608 |
Developmental And Epileptic Encephalopathy 6B |
|
Ataxia, Chorea, Choreoathetosis, Hyperkinetic movements, Myoclonus, Dystonia |
OMIM:619317 |
Cantu Syndrome |
|
Broad hallux, Short hallux, Coxa valga, Metaphyseal widening, Patent ductus arteriosus, Broad fir... |
OMIM:239850 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Congestive heart failure, Bradycardia |
OMIM:619048 |
Tetanus |
|
Elevated circulating creatine kinase concentration, Elevated urinary norepinephrine level, Tremor... |
ORPHA:3299 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Resting tremor, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, Myoclonus,... |
OMIM:606703 |
Fructose Intolerance, Hereditary |
|
Transient aminoaciduria, Hyperphosphaturia, Bicarbonaturia, Proximal renal tubular acidosis, Hype... |
OMIM:229600 |
Larsen-Like Syndrome, Lethal Type |
|
Neonatal death, Pulmonary insufficiency, Pulmonary hypoplasia |
OMIM:245650 |
Tetrasomy 5P |
|
Recurrent respiratory infections, Overlapping toe, Short hallux, Long fingers, Congestive heart f... |
ORPHA:3309 |
Developmental And Epileptic Encephalopathy 16 |
|
Hemiparesis, Abnormality of extrapyramidal motor function, Myoclonus, Dystonia |
OMIM:615338 |
Sneddon Syndrome |
|
Tremor, Nephropathy, Chorea, Hemiparesis |
ORPHA:820 |
Sandhoff Disease, Juvenile Form |
|
Incoordination, Ataxia, Urinary incontinence, Abnormal pyramidal sign, Abnormality of extrapyrami... |
ORPHA:309162 |
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Iridodonesis, Ectopia lentis, Microspherophakia, Deep anterior chamber, Buphthalmos, Megalocornea |
OMIM:251750 |
Thanatophoric Dysplasia Type 2 |
|
Micromelia, Patent ductus arteriosus, Aplasia/Hypoplasia of the lungs, Abnormal metaphysis morpho... |
ORPHA:93274 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Acute kidney injury, Elevated circulating creatinine concentration, Decreased urine output, Hyper... |
ORPHA:542323 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Death in infancy, Patent ductus arteriosus, Hip dysplasia, Postaxial polydactyly |
OMIM:614576 |
Cardiac Diverticulum |
|
Ventricular tachycardia, Pulmonary artery hypoplasia, Abnormal EKG, Pulmonary artery stenosis, Pa... |
ORPHA:1686 |
Leigh Syndrome |
|
Chorea, Choreoathetosis, Complex organic aciduria, Ataxia, Renal tubular dysfunction, Nephrotic s... |
ORPHA:506 |
Autoimmune Polyendocrinopathy Type 1 |
|
Cataract, Opacification of the corneal stroma |
ORPHA:3453 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Renal insufficiency, Hepatic cysts, Portal hypertension, Pancreatic cysts, Patent ductus arterios... |
OMIM:208540 |
Spinocerebellar Ataxia 19 |
|
Postural tremor, Limb ataxia, Cogwheel rigidity, Gait ataxia, Progressive cerebellar ataxia, Myoc... |
OMIM:607346 |
Craniofaciofrontodigital Syndrome |
|
Gastrointestinal hemorrhage, Persistent fetal circulation, Prominent superficial veins, Anomalous... |
ORPHA:363705 |
Mucopolysaccharidosis-Plus Syndrome |
|
Recurrent respiratory infections, Recurrent bronchopulmonary infections, Patent ductus arteriosus... |
OMIM:617303 |
Hypotrichosis Simplex Of The Scalp |
|
Epidermal acanthosis, Scaling skin |
ORPHA:90368 |
Continuous Spikes And Waves During Sleep |
|
Speech apraxia, Dystonia, Hyperkinetic movements, Clumsiness |
ORPHA:725 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Death in infancy, Camptodactyly of finger, Congestive heart failure, Arrhythmia, Hypertrophic car... |
ORPHA:1194 |
Microphthalmia, Syndromic 9 |
|
Renal malrotation, Patent ductus arteriosus, Renal hypoplasia, Horseshoe kidney, Tetralogy of Fal... |
OMIM:601186 |
Nystagmus, Myoclonic |
|
Myoclonus |
OMIM:310800 |
Meckel Syndrome, Type 7 |
|
Multicystic kidney dysplasia, Multiple glomerular cysts, Portal hypertension, Pancreatic cysts, P... |
OMIM:267010 |
Mulibrey Nanism |
|
Thickened cortex of long bones, Congestive heart failure, Recurrent lower respiratory tract infec... |
OMIM:253250 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Optic disc pallor, Retinal thinning |
OMIM:618970 |
Familial Renal Glucosuria |
|
Recurrent urinary tract infections, Elevated hemoglobin A1c, Moderate postnatal growth retardatio... |
ORPHA:69076 |
Meckel Syndrome, Type 8 |
|
Polydactyly, Talipes equinovarus, Polycystic kidney dysplasia, Hyperechogenic kidneys, Enlarged k... |
OMIM:613885 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Hypospadias, Sandal gap, Short stature, Tremor, Small hand, Gait ataxia, Short foot, Hypogonadism... |
OMIM:300354 |
Hennekam Syndrome |
|
Finger syndactyly, Mild postnatal growth retardation, Camptodactyly of finger, Ectopic kidney, Ho... |
ORPHA:2136 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Microcornea, Opacification of the corneal stroma, Anterior chamber synechiae |
OMIM:601499 |
Multiple Endocrine Neoplasia Type 1 |
|
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... |
ORPHA:652 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Patent ductus arteriosus, Pulmonary hypoplasia |
OMIM:616867 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Retinal detachment, Cataract, Corneal opacity, Chorioretinal dysplasia, Chorioretinal lacunae, My... |
OMIM:152950 |
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Ataxia, Rigidity, Bradykinesia, Fasciculations, Spasticity |
OMIM:183050 |
Naxos Disease |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... |
OMIM:601214 |
Distal Deletion 6P |
|
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio... |
ORPHA:96125 |
Contractural Arachnodactyly, Congenital |
|
Hip contracture, Bowing of the long bones, Arachnodactyly, Metatarsus adductus, Patent ductus art... |
OMIM:121050 |
Fuchs Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De... |
ORPHA:98974 |
Idiopathic Pulmonary Arterial Hypertension |
|
Tricuspid regurgitation, Increased pulmonary vascular resistance, Congestive heart failure, Heart... |
ORPHA:275766 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia |
OMIM:618587 |
Congenital Hydrocephalus |
|
Optic atrophy, Macular hypoplasia, Iris coloboma |
ORPHA:2185 |
Cardiac Valvular Dysplasia, X-Linked |
|
Aortic regurgitation, Congestive heart failure, Mitral regurgitation, Tricuspid regurgitation |
OMIM:314400 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Low-output congestive heart failure, Hypertrophic cardiomyopathy |
ORPHA:91130 |
Bardet-Biedl Syndrome |
|
Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplasia, Short stature, Postaxial ha... |
ORPHA:110 |
Hypercholesterolemia, Familial, 2 |
|
Corneal arcus |
OMIM:144010 |
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Venous insufficiency, Congestive heart failure, Arteriovenous malformation, Upper limb asymmetry |
ORPHA:137608 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Patent ductus arteriosus, Death in infancy, Hypoplasia of penis |
ORPHA:452 |
Pearson Marrow-Pancreas Syndrome |
|
Erythema, Hypercalciuria, 3-Methylglutaric aciduria, Renal Fanconi syndrome, Complex organic acid... |
OMIM:557000 |
Hyperekplexia 4 |
|
Hypertonia, Myoclonus, Talipes equinovarus, Camptodactyly, Adducted thumb |
OMIM:618011 |
Graft Versus Host Disease |
|
Dupuytren contracture, Scaling skin, Hyperbilirubinemia, Limited elbow movement |
ORPHA:39812 |
Senior-Boichis Syndrome |
|
Thickening of the tubular basement membrane, Chronic kidney disease, Renal atrophy, Renal hypopla... |
ORPHA:84081 |
Rabson-Mendenhall Syndrome |
|
Increased pineal volume, Short stature, Precocious puberty, Insulin-resistant diabetes mellitus, ... |
ORPHA:769 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, E... |
ORPHA:228308 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
ORPHA:157 |
Sarcoidosis, Susceptibility To, 2 |
|
Pneumothorax, Clubbing, Bronchiectasis, Abnormal pulmonary interstitial morphology, Pleural effus... |
OMIM:612387 |
Braddock-Carey Syndrome 1 |
|
Multicystic kidney dysplasia, Small hand, Spastic diplegia, Growth delay, Talipes equinovarus, Ca... |
OMIM:619980 |
Ceroid Lipofuscinosis, Neuronal, 8 |
|
Ataxia, Myoclonus |
OMIM:600143 |
Pallister-Hall-Like Syndrome |
|
Death in infancy, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Hip dislocation, Postax... |
OMIM:241800 |
Ichthyosis, Annular Epidermolytic, 1 |
|
Erythema, Scaling skin, Palmoplantar hyperkeratosis |
OMIM:607602 |
Danon Disease |
|
Myocardial necrosis, Wolff-Parkinson-White syndrome, Congestive heart failure, Dilated cardiomyop... |
OMIM:300257 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Stroke-like episode |
ORPHA:70472 |
Apolipoprotein A-I Deficiency |
|
Opacification of the corneal stroma |
ORPHA:425 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Chorea, Dysmetria, Clumsiness, Poor fine motor coordination, Myoclonus, Myoclonic... |
ORPHA:79263 |
Dislocation Of The Hip-Dysmorphism Syndrome |
|
Deviation of finger, Patent ductus arteriosus, Congenital hip dislocation |
ORPHA:2412 |
Childhood-Onset Spasticity With Hyperglycinemia |
|
Ataxia, Babinski sign, Nonketotic hyperglycinemia, Spastic diplegia, Spastic dysarthria, Hyperton... |
ORPHA:401866 |
Williams-Beuren Region Duplication Syndrome |
|
Patent ductus arteriosus, Hydronephrosis, Unilateral renal agenesis |
OMIM:609757 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Hyperphosphaturia, Short stature, Abnormal toe morphology, Precocious puberty, Abnormal finger mo... |
OMIM:163200 |
X-Linked Spinocerebellar Ataxia Type 3 |
|
Optic atrophy |
ORPHA:85297 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Patent ductus arteriosus, Hydronephrosis |
OMIM:300048 |
Epithelial Recurrent Erosion Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... |
ORPHA:293381 |
Pericardial And Diaphragmatic Defect |
|
Patent ductus arteriosus, Palpitations, Pulmonary hypoplasia, Pulmonary sequestration, Mitral ste... |
ORPHA:2847 |
Complete Atrioventricular Septal Defect |
|
Abnormal EKG, Tachycardia, Left-to-right shunt, Right ventricular failure, Third heart sound, Con... |
ORPHA:1329 |
Meckel Syndrome, Type 2 |
|
Bowing of the long bones, Postaxial hand polydactyly, Renal cyst, Polydactyly, Intrauterine growt... |
OMIM:603194 |
Nabais Sa-De Vries Syndrome, Type 2 |
|
Multicystic kidney dysplasia, Tapered finger, Chorea, Hemiparesis, Dystonia, Clinodactyly of the ... |
OMIM:618829 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Congestive heart failure |
OMIM:300886 |
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
|
Epidermal acanthosis, Acantholysis, Punctate palmoplantar hyperkeratosis, Scaling skin, Dry skin |
OMIM:616295 |
Ectodermal Dysplasia/Skin Fragility Syndrome |
|
Palmoplantar blistering, Scaling skin, Palmoplantar hyperkeratosis |
OMIM:604536 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Syndactyly, Arachnodactyly, Ataxia, Tremor, Gait ataxia, Hypertonia, Myoclonus, Clinodactyly |
OMIM:619092 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Death in infancy, Nonspecific interstitial pneumonia, Crazy paving pattern, Nodular pattern on pu... |
OMIM:610921 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Increased serum pyruvate, Tremor, Choreoathetosis, Myoclonus, Dystonia, Episodic ataxia, Hyperala... |
OMIM:312170 |
Silver-Russell Syndrome 3 |
|
Clinodactyly of the 5th finger, Syndactyly, Patent ductus arteriosus, Small hand |
OMIM:616489 |
Chromosome 16Q12 Duplication Syndrome |
|
Anisocoria, Retinal pigment epithelial mottling, Cataract, Temporal optic disc pallor |
OMIM:619649 |
Bardet-Biedl Syndrome 2 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly |
OMIM:615981 |
Gomez-Lopez-Hernandez Syndrome |
|
Opacification of the corneal stroma |
OMIM:601853 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Hypertension, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure |
ORPHA:1349 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch... |
ORPHA:90065 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Cardiomyopathy, Patent ductus arteriosus, Pulmonary hypoplasia, Congestive heart failure |
OMIM:616866 |
Schindler Disease, Type I |
|
Increased urinary O-linked sialopeptides, Spasticity, Myoclonus |
OMIM:609241 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Short stature, Postnatal growth retardation, Upper limb asymmetry, Polydactyly, Clinodactyly of t... |
ORPHA:231140 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Increased circulating very long-chain fatty acid concentration, Renal cyst, Epiphyseal stippling |
OMIM:614862 |
Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o... |
ORPHA:93322 |
Diamond-Blackfan Anemia 6 |
|
Short thumb, Patent ductus arteriosus, Mitral regurgitation, Triphalangeal thumb, Tetralogy of Fa... |
OMIM:612561 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Congenital hip dislocation, Rocker bottom foot, Calcaneovalgus deformity, Severe postnatal growth... |
ORPHA:3078 |
Developmental And Epileptic Encephalopathy 27 |
|
Chorea, Myoclonus, Spasticity, Dystonia |
OMIM:616139 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Syndactyly, Hypospadias, Postnatal growth retardation, Short 5th finger, Microphallus, Polydactyl... |
ORPHA:397590 |
Developmental And Epileptic Encephalopathy 92 |
|
Spasticity, Ataxia, Myoclonus, Dystonia |
OMIM:617829 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Neurogenic bladder, Epidermal acanthosis, Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysm... |
OMIM:618527 |
Spinocerebellar Ataxia 50 |
|
Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Action tremor |
OMIM:620158 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Short palm, Patent ductus arteriosus, Small hand, Upper limb undergrowth, Telangiectasia, Camptod... |
OMIM:608799 |
Orofaciodigital Syndrome V |
|
Recurrent respiratory infections, Sandal gap, Postaxial polydactyly, Postaxial hand polydactyly, ... |
OMIM:174300 |
Transketolase Deficiency |
|
Increased level of ribose in urine, Proportionate short stature, Renal cyst, Type I diabetes mell... |
ORPHA:488618 |
Optic Atrophy 11 |
|
Ataxia, Short stature, Gait apraxia, Dysmetria, Athetosis, Hyperkinetic movements, Bilateral tali... |
OMIM:617302 |
Ceroid Lipofuscinosis, Neuronal, 5 |
|
Ataxia, Limb tremor, Dysmetria, Clumsiness, Dysdiadochokinesis, Myoclonus |
OMIM:256731 |
Loeys-Dietz Syndrome 2 |
|
Descending thoracic aorta aneurysm, Abdominal aortic aneurysm, Syndactyly, Arachnodactyly, Arteri... |
OMIM:610168 |
Basan Syndrome |
|
Epidermal acanthosis, Single transverse palmar crease, Tapered finger, Cutaneous syndactyly of to... |
OMIM:129200 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Mitral regurgitation, Postaxial polydactyly, Vascular ring |
OMIM:603387 |
Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Congestive heart failure, Tibial bowing, Abnormal pelvic g... |
OMIM:166210 |
Spastic Paraplegia 9B, Autosomal Recessive |
|
Short stature, Urinary incontinence, Tremor, Babinski sign, Spastic paraplegia, Tetraplegia, Grow... |
OMIM:616586 |
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Cerebral palsy, Abnormal circulating biopterin concentration, Parkinsonism, Maturity-onset diabet... |
ORPHA:1578 |
Pheochromocytoma |
|
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Pheochromocytoma, Renal artery... |
OMIM:171300 |
Retinitis Pigmentosa 51 |
|
Pallor, Polydactyly, Abnormality of the kidney |
OMIM:613464 |
Mosaic Trisomy 1 |
|
Long toe, Broad toe, Toe syndactyly, Arachnodactyly, Single transverse palmar crease, Rocker bott... |
ORPHA:1692 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Paroxysmal dystonia, Neurogenic bladder, Lower limb spasticity, Detrusor sphincter dyssynergia, U... |
ORPHA:466722 |
Encephalopathy Due To Prosaposin Deficiency |
|
Myoclonus, Dystonia |
ORPHA:139406 |
Capillary Malformation-Arteriovenous Malformation |
|
Peripheral arteriovenous fistula, Epistaxis, Cerebral arteriovenous malformation, High-output con... |
ORPHA:137667 |
D-Glyceric Aciduria |
|
Single transverse palmar crease, Nonketotic hyperglycinemia, Spastic tetraplegia, Opisthotonus, G... |
OMIM:220120 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Multicystic kidney dysplasia, Short stature, Renal cyst, Hypertonia, Clinodactyly of the 5th finger |
ORPHA:2031 |
Machado-Joseph Disease |
|
Dystonia, Ataxia, Parkinsonism, Facial-lingual fasciculations, Rigidity, Babinski sign, Limb atax... |
OMIM:109150 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Short stature, Elevated circulating creatine kinase concentration, Abnormal long bone morphology,... |
ORPHA:52430 |
Acalvaria |
|
Postaxial hand polydactyly, Abnormal lung lobation |
ORPHA:945 |
Endocrine-Cerebroosteodysplasia |
|
Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Single transverse palma... |
OMIM:612651 |
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type) |
|
Ataxia, Myoclonus, Abnormality of extrapyramidal motor function |
OMIM:204300 |
Parasomnia, Sleep Bruxism Type |
|
Myoclonus |
OMIM:606840 |
Immunodeficiency 58 |
|
Scaling skin, Psoriasiform lesion, Dysuria, Short stature |
OMIM:618131 |
Congenital Rubella Syndrome |
|
Patent ductus arteriosus, Abnormality of the pulmonary artery, Abnormal metaphysis morphology |
ORPHA:290 |
Aceruloplasminemia |
|
Torticollis, Decreased circulating ceruloplasmin concentration, Decreased circulating copper conc... |
ORPHA:48818 |
Hereditary Orotic Aciduria |
|
Orotic acid crystalluria, Patent ductus arteriosus, Abnormality of the ureter, Aminoaciduria, Oro... |
ORPHA:30 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Hypoparathyroidism, Decreased circulating cortisol level, Hypercalcemia, Pituitary ... |
ORPHA:199299 |
Noonan Syndrome 8 |
|
Patent ductus arteriosus, Hypertrophic cardiomyopathy, Mitral regurgitation, Pulmonic stenosis, P... |
OMIM:615355 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Patent ductus arteriosus, Single transverse palmar crease, Coarctation of aorta |
OMIM:615502 |
Bazex Syndrome |
|
Palmoplantar keratoderma, Scaling skin |
ORPHA:166113 |
Zollinger-Ellison Syndrome |
|
Increased urinary cortisol level, Hyperparathyroidism, Hypercalcemia, Pituitary null cell adenoma... |
ORPHA:913 |
Senior-Loken Syndrome 3 |
|
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis |
OMIM:606995 |
Familial Infantile Bilateral Striatal Necrosis |
|
Ataxia, Spastic tetraparesis, Rigidity, Babinski sign, Gait ataxia, Choreoathetosis, Cogwheel rig... |
ORPHA:225154 |
Atypical Rett Syndrome |
|
Dystonia, Involuntary movements, Tremor, Small hand, Limb myoclonus, Gait ataxia, Short foot, Gro... |
ORPHA:3095 |
Orofaciodigital Syndrome Xv |
|
Postaxial hand polydactyly, Broad hallux, Duplication of phalanx of hallux |
OMIM:617127 |
2Q24 Microdeletion Syndrome |
|
Cataract, Abnormality iris morphology |
ORPHA:1617 |
Oligoarticular Juvenile Idiopathic Arthritis |
|
Uveitis, Cataract, Anterior chamber synechiae, Band keratopathy |
ORPHA:85410 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Proteinuria, Hypergonadotropic hypogonadism, Ataxia, Tremor, Renal cyst, Dysmetria, Nephrotic syn... |
OMIM:212065 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Tremor, Eyelid myoclonus, Clumsiness, Myoclonus, Limb myoclonus, Frequent falls |
ORPHA:2590 |
Monosomy 13Q34 |
|
Hypercalcemia, Fetal pyelectasis, Postaxial hand polydactyly, Postaxial foot polydactyly, Growth ... |
ORPHA:96168 |
Stankiewicz-Isidor Syndrome |
|
Ureteral duplication, Hypospadias, Truncus arteriosus, Patent ductus arteriosus, Micropenis |
OMIM:617516 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Dystonia, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Chorea, Limb ataxia... |
OMIM:208920 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Recurrent respiratory infections, Postaxial polydactyly, Tapered finger, Patent ductus arteriosus... |
OMIM:300968 |
Spinocerebellar Ataxia 13 |
|
Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus, Spas... |
OMIM:605259 |
Werner Syndrome |
|
Miscarriage, Rocker bottom foot, Abnormal cerebral vascular morphology, Myocardial infarction, Te... |
ORPHA:902 |
22Q11.2 Deletion Syndrome |
|
Hypoparathyroidism, Hyperthyroidism, Hypospadias, Arachnodactyly, Short stature, Renal hypoplasia... |
ORPHA:567 |
Cranioectodermal Dysplasia 3 |
|
Rhizomelia, Sandal gap, Postaxial polydactyly, 2-4 toe syndactyly, 2-3 toe syndactyly, Peripheral... |
OMIM:614099 |
Neuraminidase Deficiency |
|
Urinary excretion of sialylated oligosaccharides, Proteinuria, Short stature, Increased urinary O... |
OMIM:256550 |
Ceroid Lipofuscinosis, Neuronal, 2 |
|
Ataxia, Myoclonus |
OMIM:204500 |
Liver Disease, Severe Congenital |
|
Hyponatremia, Recurrent urinary tract infections, Hypospadias, Elevated circulating alpha-fetopro... |
OMIM:619991 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Renal insufficiency, Hypospadias, Decreased response to growth hormone stimulation test, Postnata... |
ORPHA:96179 |
Peeling Skin Syndrome 6 |
|
Dry skin, Scaling skin |
OMIM:618084 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Patent ductus arteriosus, Absent pulmonary artery, Split hand, Clubbing, Coarctation of aorta, De... |
OMIM:600460 |
Argininemia |
|
Postnatal growth retardation, Hyperammonemia, Progressive spastic quadriplegia, Diaminoaciduria, ... |
OMIM:207800 |
3-Methylglutaconic Aciduria, Type V |
|
Prolonged QT interval, Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failu... |
OMIM:610198 |
Congenital Myopathy 11 |
|
Patent ductus arteriosus |
OMIM:619967 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, D... |
ORPHA:93111 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 7 |
|
Myoclonus |
OMIM:604827 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Incoordination, Ataxia, Short stature, Tremor, Dysmetria, Gait ataxia, Limb ataxia, Spasticity |
OMIM:213200 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Recurrent urinary tract infections, Left-to-right shunt, Hypospadias, Abnormality of the kidney, ... |
ORPHA:363444 |
Campomelia, Cumming Type |
|
Pancreatic cysts, Polycystic kidney dysplasia |
OMIM:211890 |
Pontocerebellar Hypoplasia, Type 1E |
|
Elbow flexion contracture, Myoclonus |
OMIM:619303 |
Erythrokeratodermia Variabilis Et Progressiva 4 |
|
Erythema, Epidermal acanthosis, Palmoplantar hyperkeratosis |
OMIM:617526 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Postaxial foot polydactyly, Broad distal phalanx of finger, 2-3 toe syndactyly, Postaxial polydac... |
ORPHA:404440 |
Retinitis Pigmentosa 12 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:600105 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Short stature, Ataxia, Tremor, Rigidity, Bradykinesia, Dystonia |
OMIM:617836 |
Cole Disease |
|
Punctate palmoplantar hyperkeratosis, Palmoplantar keratoderma, Epidermal acanthosis, Abnormal bl... |
OMIM:615522 |
Hemochromatosis, Type 1 |
|
Congestive heart failure, Telangiectasia, Cardiomyopathy, Arrhythmia, Pleural effusion |
OMIM:235200 |
Frontonasal Dysplasia 1 |
|
Postaxial hand polydactyly, Tetralogy of Fallot, Pectoral muscle hypoplasia/aplasia, Radial devia... |
OMIM:136760 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia |
OMIM:600116 |
Weaver Syndrome |
|
Short fourth metatarsal, Single transverse palmar crease, Calcaneovalgus deformity, Hypoplastic i... |
OMIM:277590 |
Mal De Meleda |
|
Epidermal acanthosis, Abnormality of the hand, Nonepidermolytic palmoplantar hyperkeratosis, Eryt... |
ORPHA:87503 |
Goodpasture Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Increased blood urea nitrogen,... |
OMIM:233450 |
Barth Syndrome |
|
Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur... |
OMIM:302060 |
Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Increased serum pyruvate, Spasticity, Ataxia, Myoclonus |
OMIM:618225 |
4H Leukodystrophy |
|
Dystonia, Short stature, Abnormality of thyroid physiology, Decreased response to growth hormone ... |
ORPHA:289494 |
Raine Syndrome |
|
Bowing of the long bones, Hydroureter, Short stature, Micromelia, Hydronephrosis, Hypophosphatemi... |
OMIM:259775 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Myoclonus |
OMIM:619028 |
Williams-Beuren Syndrome |
|
Vocal cord paralysis, Nephrocalcinosis, Early onset of sexual maturation, Clinodactyly of the 5th... |
OMIM:194050 |
Lopes-Maciel-Rodan Syndrome |
|
Tremor, Abnormal pyramidal sign, Small hand, Short foot, Ankle clonus, Bradykinesia, Hypertonia, ... |
OMIM:617435 |
Pyridoxal Phosphate-Responsive Seizures |
|
Abnormal circulating glycine concentration, Abnormal circulating tyrosine concentration, Abnormal... |
ORPHA:79096 |
Bor Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu... |
ORPHA:107 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Overriding aorta, Patent ductus arteriosus, Hematuria, Hypertension, Second degree atrioventricul... |
OMIM:617021 |
Spinocerebellar Ataxia Type 36 |
|
Ataxia, Babinski sign, Truncal ataxia, Dysmetria, Hand tremor, Limb ataxia, Tongue fasciculations... |
ORPHA:276198 |
Wolfram Syndrome 1 |
|
Neurogenic bladder, Hydroureter, Diabetes mellitus, Diabetes insipidus, Ataxia, Tremor, Limited m... |
OMIM:222300 |
Gm1 Gangliosidosis |
|
Recurrent respiratory infections, Camptodactyly of finger, Congestive heart failure, Patent ductu... |
ORPHA:354 |
Congenital Tricuspid Stenosis |
|
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Hypotension,... |
ORPHA:95459 |
Trisomy 17P |
|
Hypoplasia of penis, Urethral valve, Patent ductus arteriosus, Urethral stenosis, Polycystic kidn... |
ORPHA:261290 |
Huntington Disease |
|
Clonus, Involuntary movements, Rigidity, Chorea, Babinski sign, Clumsiness, Bradykinesia, Poor fi... |
ORPHA:399 |
Zika Virus Disease |
|
Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph... |
ORPHA:448237 |
Sialidosis Type 1 |
|
Urinary excretion of sialylated oligosaccharides, Short stature, Ataxia, Tremor, Increased urinar... |
ORPHA:812 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Lower limb spasticity, Exaggerated startle response, Overlapping toe, Ataxia, Spastic tetraparesi... |
OMIM:618598 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Severe short stature, Rigidity, Growth delay, Myoclonus, Intrauterine growth retardation |
OMIM:619057 |
Classic Phenylketonuria |
|
Tremor, Lack of skin elasticity, Paraplegia, Growth delay, Hypertonia, Hyperphenylalaninemia, Hem... |
ORPHA:79254 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Spastic tetraparesis, Hyposerinemia, Hypertonia, Bilateral talipes equinovarus, Hyperglycinemia, ... |
ORPHA:284417 |
Lymphedema-Distichiasis Syndrome |
|
Glomerulopathy, Recurrent urinary tract infections, Proteinuria, Patent ductus arteriosus, Tubulo... |
ORPHA:33001 |
Ichthyosis Vulgaris |
|
Absent keratohyalin granules, Dry skin, Palmar hyperlinearity |
OMIM:146700 |
Meckel Syndrome, Type 5 |
|
Postaxial foot polydactyly, Bowing of the long bones, Postaxial hand polydactyly, Renal cyst |
OMIM:611561 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Short stature, Perianal erythema, Ataxia, Tremor, Decreased serum zinc, Hypogonadism, Perioral er... |
OMIM:201100 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Hallux valgus, Short metacarpal, Short stature, Abnormality of the endocrine system, Metaphyseal ... |
ORPHA:166035 |
Pseudo-Torch Syndrome 2 |
|
Patent ductus arteriosus, Bradycardia, Abnormal renal corticomedullary differentiation, Cerebral ... |
OMIM:617397 |
Ventriculomegaly With Cystic Kidney Disease |
|
Vascular dilatation, Postaxial polydactyly |
OMIM:219730 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Urinary incontinence, Rigidity, Babinski sign, Myoclonus, Dystonia |
OMIM:600795 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Hypertonia, Hydroureter, Hydronephrosis, Myoclonus |
OMIM:618240 |
17Q23.1Q23.2 Microdeletion Syndrome |
|
Long toe, Sandal gap, Long fingers, Patent ductus arteriosus, Patellar hypoplasia, Pulmonary arte... |
ORPHA:261279 |
Retinitis Pigmentosa |
|
Keratoconus, Abnormality of retinal pigmentation, Cataract, Abnormal retinal vascular morphology,... |
ORPHA:791 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti... |
ORPHA:289548 |
Diffuse Cutaneous Systemic Sclerosis |
|
Telangiectasia of the skin, Congestive heart failure, Narrow foramen obturatorium, Pulmonary fibr... |
ORPHA:220393 |
Ectopia Pupillae |
|
Ectopia pupillae |
OMIM:129750 |
Hyperlysinemia |
|
Neck hypertonia, Short stature, Poor motor coordination, Spastic tetraparesis, Tremor, Argininuri... |
ORPHA:2203 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia |
OMIM:610297 |
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or... |
ORPHA:420485 |
8P23.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Proximal placement of thumb, Tapered finger, Patent ductus arteriosus, Pulm... |
ORPHA:251071 |
Spinal Arteriovenous Metameric Syndrome |
|
Congestive heart failure, Spinal arteriovenous malformation, Arteriovenous malformation |
ORPHA:53721 |
Tarp Syndrome |
|
Finger syndactyly, Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Hy... |
ORPHA:2886 |
Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits... |
ORPHA:449395 |
Myopathy With Extrapyramidal Signs |
|
Extremely elevated creatine kinase, Ataxia, Elevated circulating creatine kinase concentration, C... |
OMIM:615673 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Renal salt wasting, Eleva... |
ORPHA:168558 |
Primary Hyperoxaluria Type 3 |
|
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... |
ORPHA:93600 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Renal salt wasting, Premature adrenarche, Hyponatremia, Sho... |
ORPHA:90794 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Scapular winging, Elevated circulating creatine kinase concentration, Elevated circulating acylca... |
ORPHA:26791 |
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Arachnodactyly, Fetal megacystis... |
ORPHA:73246 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Optic disc pallor, Posterior subcapsular cataract, Rod-cone dystrophy, Macular atrophy |
OMIM:615434 |
Distal Triplication 15Q |
|
Abnormality of the kidney, Patent ductus arteriosus, Hypoplastic aortic arch, Dilatation of the r... |
ORPHA:314588 |
Cardioacrofacial Dysplasia 2 |
|
Postaxial hand polydactyly, Clubbing, Genu valgum, Postaxial foot polydactyly, Limb undergrowth, ... |
OMIM:619143 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Oculomotor apraxia, Hy... |
OMIM:618060 |
Meckel Syndrome, Type 3 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly |
OMIM:607361 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 16 |
|
Short stature, Short 3rd toe, Short 2nd toe, Short 5th finger, Myoclonus, Short 4th toe, Short 5t... |
OMIM:619060 |
Woolly Hair |
|
Abnormal pupil morphology, Cataract, Abnormal retinal morphology |
ORPHA:170 |
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification |
|
Portal hypertension, Emphysema, Cerebral berry aneurysm |
OMIM:210050 |
Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an... |
ORPHA:91495 |
Hypoplastic Left Heart Syndrome |
|
Patent ductus arteriosus, Hypoplastic aortic arch |
ORPHA:2248 |
Juvenile Huntington Disease |
|
Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Progressive cerebellar ataxia, Myoclonus, Dy... |
ORPHA:248111 |
Neuroferritinopathy |
|
Resting tremor, Parkinsonism, Writer's cramp, Involuntary movements, Palatal tremor, Chorea, Babi... |
ORPHA:157846 |
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia |
|
Peripheral axonal neuropathy, Optic atrophy |
OMIM:620221 |
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Spastic tetraplegia, Ataxia, Myoclonus, Erratic myoclonus |
OMIM:619971 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Postaxial polydactyly, Preaxial polydactyly, Hypoplastic pubic bone, Fibular hypoplasia, Short lo... |
OMIM:617925 |
Corneal Dystrophy, Posterior Polymorphous, 4 |
|
Ectopia pupillae |
OMIM:618031 |
Centrifugal Lipodystrophy |
|
Erythema, Scaling skin |
ORPHA:90156 |
Nephronophthisis-Like Nephropathy 1 |
|
Tubular basement membrane disintegration, Pancreatic cysts, Stage 5 chronic kidney disease, Renal... |
OMIM:613159 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Papilledema, Abnormality of retinal pigmentation, Cataract, Choroidal neovascularization, Nongran... |
ORPHA:91500 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,... |
OMIM:601552 |
Spinocerebellar Ataxia Type 13 |
|
Torticollis, Short stature, Urinary incontinence, Limb ataxia, Titubation, Urinary urgency, Gait ... |
ORPHA:98768 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Atrial flutter, Tricuspid regurgitation, Abnormal thumb morphology, Congestive heart failure, Mit... |
ORPHA:324410 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Recurrent respiratory infections, Abnormal cerebral vascular morphology, Micromelia, Patent ductu... |
ORPHA:2637 |
Posttransplant Acute Limbic Encephalitis |
|
Hyponatremia, Ataxia, Myoclonus, Dystonia |
ORPHA:163921 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hyperammonemia, Ketonuria, Opisthotonus, Elevated urinary 3-methylcrotonylglycine level, 3-... |
OMIM:210200 |
Atrophoderma Vermiculata |
|
Abnormal epidermal morphology, Erythema |
ORPHA:79100 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Increased serum pyruvate, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Dys... |
OMIM:619405 |
Mckusick-Kaufman Syndrome |
|
Finger syndactyly, Tarsal synostosis, Postaxial hand polydactyly, Patent ductus arteriosus, Posta... |
ORPHA:2473 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Hypospadias, Adrenogenital syndrome, Renal salt wasting |
OMIM:201910 |
X-Linked Dystonia-Parkinsonism |
|
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi... |
ORPHA:53351 |
Trisomy 13 |
|
Patent ductus arteriosus, Abnormality of the ureter, Multiple renal cysts, Displacement of the ur... |
ORPHA:3378 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Tapered finger, Patent ductus arteriosus, Recurrent pneumonia, Hip dysplasia, Talipes equinovarus... |
OMIM:619293 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Patent ductus arteriosus, Methylmalonic aciduria, Coarctation of aorta, Pulmonary arterial hypert... |
OMIM:614857 |
Williams Syndrome |
|
Hypoplasia of penis, Elevated circulating creatine kinase concentration, Redundant skin, Tremor, ... |
ORPHA:904 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Dry skin, Multinodular goiter, Scaling skin, Palmoplantar keratoderma |
OMIM:618373 |
Orofaciodigital Syndrome Type 1 |
|
Finger syndactyly, Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Tarsal synosto... |
ORPHA:2750 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Congestive heart failure, Intracranial hemorrhage, Hypertension, Aortic root aneurysm, Aortic ath... |
ORPHA:363618 |
Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Palmar hyperlinearity, Palmoplantar keratoderma, Epidermal acanthosis, White scaling skin |
OMIM:604777 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Congestive heart failure, Stroke |
ORPHA:3077 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Increased urinary potassium, Glucocortocoid-insensitive primary hyperaldosteronism, Neoplasm of t... |
ORPHA:231625 |
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Tremor, Elevated circulating creatine kinase concentration, Fasciculations |
ORPHA:209335 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Anuria, Elevated circulating creatinine concentration, Hemoglobinuria, Hypokalemia,... |
ORPHA:90038 |
Spinal Muscular Atrophy, Ryukyuan Type |
|
Fasciculations |
OMIM:271200 |
Hand-Foot-Genital Syndrome |
|
Shortening of all middle phalanges of the fingers, Miscarriage, Short hallux, Proximal placement ... |
ORPHA:2438 |
Hyperkalemic Periodic Paralysis |
|
Hyponatremia, Periodic hyperkalemic paralysis, Cerebral palsy, Elevated circulating creatine kina... |
ORPHA:682 |
Pseudo-Torch Syndrome 1 |
|
Cataract, Opacification of the corneal stroma |
OMIM:251290 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B |
|
Hammertoe, Fasciculations |
OMIM:600882 |
Bardet-Biedl Syndrome 12 |
|
Hydroureter, Postaxial hand polydactyly, Cystic renal dysplasia, Postaxial foot polydactyly, Poly... |
OMIM:615989 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Methylmalonic acidemia, Short humerus, Short femur, Hypospadias, Dystonia, Methylmalonic aciduria... |
ORPHA:17 |
Myopathy, Myofibrillar, 2 |
|
Shoulder girdle muscle weakness, Elevated circulating creatine kinase concentration, Fasciculations |
OMIM:608810 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Patent ductus arteriosus, Drumstick terminal phalanges, Death in childhood, Hypertrophic cardiomy... |
OMIM:612938 |
Al-Gazali-Bakalinova Syndrome |
|
Epiphyseal dysplasia, Tapered finger, Flattened epiphysis, Genu valgum, Polydactyly, Clinodactyly |
OMIM:607131 |
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect |
|
Clumsiness, Abnormal circulating creatine kinase concentration, Fasciculations, Abnormal circulat... |
ORPHA:521411 |
Meacham Syndrome |
|
Hypoplasia of penis, Patent ductus arteriosus, Conotruncal defect, Horseshoe kidney, Anomalous pu... |
ORPHA:3097 |
Isotretinoin-Like Syndrome |
|
Postnatal growth retardation, Intrauterine growth retardation, Hypocalcemia |
ORPHA:2306 |
Blau Syndrome |
|
Nongranulomatous uveitis, Cataract, Band keratopathy, Uveitis, Iritis, Cystoid macular edema, Abn... |
OMIM:186580 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, Babinski sign, Gait apraxi... |
OMIM:615157 |
Thrombocytopenia-Absent Radius Syndrome |
|
Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Phocomelia, Short p... |
OMIM:274000 |
Lessel-Kreienkamp Syndrome |
|
Clinodactyly of the 5th finger, Patent ductus arteriosus, Pulmonic stenosis |
OMIM:619149 |
Chromosome 5Q12 Deletion Syndrome |
|
Long toe, Long fingers, Patent ductus arteriosus, Hypotension |
OMIM:615668 |
Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Scaling skin on fingertip, Epidermal acanthosis, Honeycomb palmoplantar hyperkeratosis, Palmoplan... |
ORPHA:79395 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... |
ORPHA:216694 |
Peho-Like Syndrome |
|
Myoclonus, Tapered finger |
OMIM:617507 |
Joubert Syndrome 23 |
|
Polydactyly |
OMIM:616490 |
Pemphigus Foliaceus |
|
Skin vesicle, Erythema, Scaling skin, Acantholysis |
ORPHA:79481 |
Mitochondrial Complex I Deficiency, Nuclear Type 12 |
|
Choreoathetosis, Frequent falls, Ataxia, Myoclonus |
OMIM:301020 |
Congenital Lobar Emphysema |
|
Emphysema |
ORPHA:1928 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Small hand, Spastic tetrap... |
OMIM:300055 |
Refsum Disease, Classic |
|
Cardiomyopathy, Short fourth metatarsal, Congestive heart failure, Arrhythmia |
OMIM:266500 |
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Neonatal death, Myoglobinuria |
OMIM:602199 |
Kagami-Ogata Syndrome |
|
Coxa valga, Long fingers, Patent ductus arteriosus, Pulmonary hypoplasia, Pulmonic stenosis, Limb... |
OMIM:608149 |
Alpers-Huttenlocher Syndrome |
|
Ataxia, Paraparesis, Choreoathetosis, Myoclonus, Progressive spasticity, Spastic paraparesis, Spa... |
ORPHA:726 |
Cutis Laxa, Autosomal Dominant 1 |
|
Aortic regurgitation, Congestive heart failure, Bronchiectasis, Mitral regurgitation, Emphysema, ... |
OMIM:123700 |
Salt And Pepper Developmental Regression Syndrome |
|
Hyporeflexia of upper limbs, Choreoathetosis, Myoclonus |
OMIM:609056 |
Joubert Syndrome 22 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, 2-3 toe syndactyly |
OMIM:615665 |
Kid Syndrome |
|
Epidermal acanthosis, Equinus calcaneus, Coxa valga, Postnatal growth retardation, Patellar hypop... |
ORPHA:477 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Patent ductus arteriosus, Renal agenesis, Cyst... |
OMIM:220500 |
Joubert Syndrome 37 |
|
Postaxial polydactyly |
OMIM:619185 |
Adult-Onset Autosomal Recessive Cerebellar Ataxia |
|
Slurred speech, Dysmetria, Limb ataxia, Ankle clonus, Progressive cerebellar ataxia, Progressive ... |
ORPHA:284289 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Syndactyly, Nephroblastoma, Polydactyly |
OMIM:602501 |
Congenital Disorder Of Deglycosylation 1 |
|
Hyperalaninemia, Single transverse palmar crease, Elevated circulating alpha-fetoprotein concentr... |
OMIM:615273 |
Velocardiofacial Syndrome |
|
Hypoparathyroidism, Short stature, Hypocalcemia, Abnormality of the hand |
OMIM:192430 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Ureteral duplication, Short metatarsal, Renal cyst, Nephronophthisis, Clinodactyly of the 5th fin... |
OMIM:266920 |
Fanconi Anemia, Complementation Group B |
|
Death in infancy, Absent thumb, Patent ductus arteriosus, Abnormal lung lobation, Bilateral radia... |
OMIM:300514 |
Hereditary Hemorrhagic Telangiectasia |
|
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Peripheral arteriovenous fistula, Trans... |
ORPHA:774 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Respiratory tract infection, Hypersensitivity pneumonitis, Clubbing, Bronchiectasis, Honeycomb lu... |
ORPHA:79127 |
Chromosome 18Q Deletion Syndrome |
|
Recurrent respiratory infections, Toe syndactyly, Overlapping toe, Rocker bottom foot, Proximal p... |
OMIM:601808 |
Leukodystrophy, Hypomyelinating, 22 |
|
Optic disc pallor, Astigmatism |
OMIM:619328 |
Dravet Syndrome |
|
Incoordination, Parkinsonism, Action tremor, Rigidity, Cogwheel rigidity, Bradykinesia, Poor fine... |
ORPHA:33069 |
Posterior Urethral Valve |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Postnatal... |
ORPHA:93110 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hyperextensibility of the finger joints, Internally rotated shoulders, Single transverse palmar c... |
OMIM:619503 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Type I diabetes mellitus, Hypothyroidism, Scaling skin, Thyroiditis |
OMIM:606367 |
Pontocerebellar Hypoplasia, Type 1A |
|
Ataxia, Hand tremor, Limb ataxia, Tongue fasciculations, Talipes equinovarus, Fasciculations |
OMIM:607596 |
Weill-Marchesani Syndrome 2 |
|
Short metacarpal, Congestive heart failure, Patent ductus arteriosus, Short metatarsal, Broad pal... |
OMIM:608328 |
Aminopterin Syndrome Sine Aminopterin |
|
Syndactyly, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Short thumb, Clinodactyly... |
OMIM:600325 |
Brittle Cornea Syndrome 2 |
|
Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor... |
OMIM:614170 |
Arima Syndrome |
|
Proteinuria, Polyuria, Ataxia, Postaxial hand polydactyly, Stage 5 chronic kidney disease, Hematu... |
OMIM:243910 |
Primary Unilateral Adrenal Hyperplasia |
|
Adrenal hyperplasia, Increased urinary potassium, Glucocortocoid-insensitive primary hyperaldoste... |
ORPHA:231580 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Cataract, Decreased nerve conduction velocity, Optic atrophy, Rod-cone dystrophy, Subcapsular cat... |
OMIM:612674 |
Farber Disease |
|
Corneal opacity, Macular degeneration, Abnormal conjunctiva morphology, Opacification of the corn... |
ORPHA:333 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Optic disc pallor, Cataract, Brushfield spots, Pigmentary retinopathy, Opacification of the corne... |
OMIM:214100 |
Pelizaeus-Merzbacher Disease |
|
Generalized dystonia, Short stature, Writer's cramp, Ataxia, Tremor, Head titubation, Spastic par... |
OMIM:312080 |
Cornelia De Lange Syndrome 1 |
|
Single transverse palmar crease, Micromelia, Ectopic kidney, Proximal placement of thumb, Renal c... |
OMIM:122470 |
Geleophysic Dysplasia 1 |
|
Short palm, Mitral stenosis, Camptodactyly of finger, Tricuspid stenosis, Coxa valga, Congestive ... |
OMIM:231050 |
Infantile Spasms-Broad Thumbs Syndrome |
|
Optic disc pallor, Cataract |
ORPHA:3173 |
Zaki Syndrome |
|
Toe syndactyly, Long fingers, Patent ductus arteriosus, Ectrodactyly, Broad distal phalanx of fin... |
OMIM:619648 |
Familial Adenomatous Polyposis 4 |
|
Ovarian cyst, Renal cyst |
OMIM:617100 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Opacification of the corneal stroma |
OMIM:313400 |
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete |
|
Adrenocorticotropic hormone excess, Adrenal insufficiency, Hyperaldosteronism, Renal salt wasting |
OMIM:613743 |
Distal Xq28 Microduplication Syndrome |
|
Epistaxis, Metatarsus adductus, Patent ductus arteriosus, Recurrent upper respiratory tract infec... |
ORPHA:293939 |
Parkinsonian-Pyramidal Syndrome |
|
Neurogenic bladder, Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Bradykinesia,... |
ORPHA:171695 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Short... |
OMIM:261740 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Toe syndactyly, Thoracic aortic aneurysm, Patent ductus arteriosus, Partial anomalous pulmonary v... |
OMIM:619657 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Urinary incontinence, Abnormality of the hand, Babinski sign, Myoclonus, Apraxia, Spasticity |
OMIM:221770 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Proteinuria, Hemolytic-uremic syn... |
OMIM:277400 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Speech apraxia, Dystonia, Short stature, Elevated circulating creatine kinase concentration, Atax... |
OMIM:615356 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Spastic ataxia, Tremor, Babinski sign, Spastic/hyperactive bladder, Slurred speech, Clumsiness, P... |
ORPHA:137898 |
Ceroid Lipofuscinosis, Neuronal, 1 |
|
Spasticity, Ataxia, Myoclonus |
OMIM:256730 |
Short-Rib Thoracic Dysplasia 12 |
|
Hypoplastic scapulae, Bowing of the legs, Atelectasis, Patent ductus arteriosus, Short toe, Broad... |
OMIM:269860 |
Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
Facial Spasm |
|
Anisocoria |
OMIM:134300 |
Wiedemann-Steiner Syndrome |
|
Tapered finger, Contracture of the distal interphalangeal joint of the fingers, Short toe, Patent... |
OMIM:605130 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Recurrent respiratory infections, Abnormal acetabulum morphology, Postaxial polydactyly, Rhizomel... |
ORPHA:397715 |
Spastic Paraplegia 79B, Autosomal Recessive |
|
Lower limb spasticity, Ataxia, Postural tremor, Head titubation, Hoffmann sign, Babinski sign, Sp... |
OMIM:615491 |
Charge Syndrome |
|
Abnormal palmar dermatoglyphics, Decreased response to growth hormone stimulation test, Gonadotro... |
OMIM:214800 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Duplicated collecting system, Conjugated hyperbilirubinemia, Postnatal growth retardation, Hypera... |
OMIM:617093 |
Cone-Rod Dystrophy 3 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten... |
OMIM:604116 |
Singleton-Merten Syndrome 2 |
|
Short stature, Psoriasiform lesion, Osteolytic defects of the phalanges of the hand |
OMIM:616298 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Acute hyperammonemia, Ketonuria, Cerebral palsy, Hyperglycinuria, Hyperammonemia, Opisthotonus, O... |
OMIM:210210 |
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ... |
ORPHA:2973 |
Brain-Lung-Thyroid Syndrome |
|
Thyroid dysgenesis, Chorea, Elevated circulating thyroid-stimulating hormone concentration, Chore... |
ORPHA:209905 |
Diffuse Cutaneous Mastocytosis |
|
Scaling skin |
ORPHA:79456 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Rhizomelia, Ulnar deviation of the wrist, Patent ductus arteriosus, 2-3 toe syndactyly, Irregular... |
OMIM:618162 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Hypospadias, Ataxia, Tremor, Hyperammonemia, Growth delay, 3-Methylglutaconic aciduria, Neonatal ... |
OMIM:614052 |
Duane-Radial Ray Syndrome |
|
Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Vesicoureteral reflux, Upper lim... |
OMIM:607323 |
Bardet-Biedl Syndrome 1 |
|
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Short ... |
OMIM:209900 |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Hypertonia, Myoclonus |
OMIM:610090 |
Pontocerebellar Hypoplasia Type 4 |
|
Hypertonia, Myoclonus |
ORPHA:166063 |
Axial Mesodermal Dysplasia Spectrum |
|
Short stature, Renal hypoplasia/aplasia, Abnormality of the ureter, Renal cyst, Abnormal localiza... |
ORPHA:1834 |
Epilepsy, Progressive Myoclonic, 12 |
|
Ataxia, Myoclonus, Dysmetria |
OMIM:619191 |
Coenzyme Q10 Deficiency, Primary, 4 |
|
Tremor, Abnormal pyramidal sign, Myoclonus, Ataxia |
OMIM:612016 |
Retinitis Pigmentosa 49 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:613756 |
Orofaciodigital Syndrome Type 6 |
|
Syndactyly, Mesoaxial polydactyly, Renal agenesis, Short stature, Ataxia, Renal hypoplasia/aplasi... |
ORPHA:2754 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 15 |
|
Myoclonus, Eyelid myoclonus |
OMIM:618357 |
Mucolipidosis Ii Alpha/Beta |
|
Metaphyseal widening, Death in childhood, Split hand, Flat acetabular roof, Flared iliac wing, Ao... |
OMIM:252500 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Elevated circulating creatine kinase concentration, Clonus, Spastic tetraplegia, Aminoaciduria, H... |
OMIM:619055 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Scapular winging, Sandal gap, Single transverse palmar crease, Tapered finger, Patent ductus arte... |
OMIM:617061 |
Schimke Immuno-Osseous Dysplasia |
|
Wide capital femoral epiphyses, Transient ischemic attack, Abnormal femoral head morphology, Cong... |
ORPHA:1830 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tremor, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Pallor, Hyperinsulinemic hypoglycemia |
ORPHA:276608 |
Congenital-Onset Steinert Myotonic Dystrophy |
|
Patent ductus arteriosus, Enuresis, Bundle branch block, First degree atrioventricular block |
ORPHA:589821 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Rhizomelia, Postaxial polydactyly, Postnatal growth retardation, Elevated 8-dehydrocholesterol, E... |
OMIM:302960 |
Emanuel Syndrome |
|
Recurrent urinary tract infections, Truncus arteriosus, Unilateral renal agenesis, Patent ductus ... |
OMIM:609029 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Anuria, Thoracic aortic aneurysm, Patent ductus arteriosus, Megacystis, Pyelonephritis, Bidirecti... |
OMIM:619351 |
Digeorge Syndrome |
|
Renal insufficiency, Short stature, Parathyroid agenesis, Unilateral renal agenesis, Decreased ci... |
OMIM:188400 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Cataract, Brushfield spots, Optic nerve dysplasia, Optic atrophy, Pigmentary retinopathy, Opacifi... |
OMIM:614866 |
Mohr Syndrome |
|
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Flared metaphysis, Postaxial f... |
OMIM:252100 |
Restrictive Dermopathy 1 |
|
Ureteral duplication, Hypospadias, Rocker bottom foot, Adrenal hypoplasia, Overtubulated long bon... |
OMIM:275210 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Dystonia, Short stature, Hypogonadotropic hypogonadism, Ataxia, Postural tremor, Tremor, Babinski... |
OMIM:607694 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Psoriasiform lesion, Thyroiditis, Growth delay, Clubbing of fingers, Type I diabetes mellitus, Hy... |
OMIM:614700 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Patent ductus arteriosus, Recurrent pneumonia, Short 5th finger, Acromesomelia |
ORPHA:500159 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Short femur, Short stature, Hypercalciuria, Nephrocalcinosis, Talipes equinovarus, Broad distal p... |
OMIM:300990 |
Spinocerebellar Ataxia Type 26 |
|
Paralysis, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Fa... |
ORPHA:101112 |
Retinitis Pigmentosa 58 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:613617 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Single transverse palmar crease, Micromelia, Delayed epiphyseal ossification, Preaxial polydactyl... |
OMIM:210710 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Overlapping toe, Single transverse palmar crease, Tapered finger, Short thumb, Patent ductus arte... |
OMIM:619148 |
Peroxisome Biogenesis Disorder 5B |
|
Ataxia, Tremor, Elevated circulating phytanic acid concentration, Dysmetria, Oculomotor apraxia |
OMIM:614867 |
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Cerebral palsy, Oculogyric crisis, Tremor, Rigidity, Growth delay, Bradykinesia, Dystonia, Limb h... |
ORPHA:70594 |
Acute Intermittent Porphyria |
|
Dark urine, Hyponatremia, Renal insufficiency, Proximal muscle weakness in upper limbs, Dysuria, ... |
ORPHA:79276 |
Retinitis Pigmentosa 41 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... |
OMIM:612095 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Postaxial polydactyly |
OMIM:615824 |
Carnitine Deficiency, Systemic Primary |
|
Cardiomyopathy, Mitral regurgitation, Congestive heart failure, Hypertrophic cardiomyopathy |
OMIM:212140 |
Tatton-Brown-Rahman Syndrome |
|
Tricuspid regurgitation, Supraventricular tachycardia with an accessory connection mediated pathw... |
ORPHA:404443 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Pulmona... |
OMIM:610655 |
9Q21.13 Microdeletion Syndrome |
|
Postnatal growth retardation, Hip dysplasia, Polydactyly, Hydronephrosis |
ORPHA:531151 |
Nephronophthisis 11 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:613550 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Diabetes mellitus, Increased circulating thyroglobulin level, Pancreatic cysts, Elevated circulat... |
OMIM:610199 |
Cone-Rod Dystrophy 20 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina |
OMIM:615973 |
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Hyperextensibility of the finger joints, Ataxia, Babinski sign, Dysmetria, Dysdiadochokinesis, Hy... |
OMIM:618356 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Hypospadias, Unilateral renal agenesis, Perianal er... |
OMIM:308205 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Recurrent respiratory infections, Postaxial hand polydactyly |
ORPHA:1389 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Ulnar deviation of the hand, Proximal placement of thumb, Patent ductus arteriosus, Short sternum... |
OMIM:620113 |
Dk1-Cdg |
|
Congestive heart failure, Arrhythmia, Dilated cardiomyopathy |
ORPHA:91131 |
Chromosome 10Q26 Deletion Syndrome |
|
Scapular winging, Congenital hip dislocation, Toe syndactyly, Single transverse palmar crease, Sa... |
OMIM:609625 |
Autosomal Recessive Ataxia, Beauce Type |
|
Lower limb spasticity, Ataxia, Urinary incontinence, Babinski sign, Dysmetria, Clumsiness, Ankle ... |
ORPHA:88644 |
Trisomy 1Q |
|
Patent ductus arteriosus, Multicystic kidney dysplasia, Congenital megaureter, Hydronephrosis |
ORPHA:261344 |
2Q37 Microdeletion Syndrome |
|
Finger syndactyly, Multicystic kidney dysplasia, Short metacarpal, Toe syndactyly, Brachydactyly,... |
ORPHA:1001 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Patent ductus arteriosus, Hypospadias |
OMIM:617751 |
Microcephaly-Capillary Malformation Syndrome |
|
Short stature, Spastic tetraparesis, Myoclonus, Vesicoureteral reflux, Clinodactyly, Short distal... |
OMIM:614261 |
Triple A Syndrome |
|
Optic atrophy, Iris coloboma, Motor axonal neuropathy |
ORPHA:869 |
Joubert Syndrome 1 |
|
Hemifacial spasm, Ataxia, Postaxial hand polydactyly, Renal cyst, Postaxial foot polydactyly, Ocu... |
OMIM:213300 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Dystonia, Short stature, Ataxia, Babinski sign, Myoclonus, Truncal ataxia, Spasticity |
OMIM:252011 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Recurrent intrapulmonary hemorrhage, Transient ischemic attack, Abnormal pleura morphology, Myoca... |
ORPHA:183 |
Neurooculocardiogenitourinary Syndrome |
|
Patent ductus arteriosus, Tricuspid regurgitation, Abnormality of the palmar creases |
OMIM:618652 |
Osteogenesis Imperfecta |
|
Micromelia, Abnormal tibia morphology, Abnormal femur morphology, Femoral bowing, Abnormal long b... |
ORPHA:666 |
Myopathy, Mitochondrial, And Ataxia |
|
Hyperthyroidism, Short stature, Elevated circulating creatine kinase concentration, Ataxia, Tremo... |
OMIM:617675 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Short stature, Elevated hemoglobin A1c, Anterior pituitary hypopla... |
OMIM:616113 |
Retinitis Pigmentosa 74 |
|
Posterior polar cataract, Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:616562 |
Leukodystrophy, Hypomyelinating, 6 |
|
Short stature, Ataxia, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity |
OMIM:612438 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Syndactyly, Sandal gap, Widely spaced toes, Clinodactyly of the 5th finger, Mitten deformity, Neo... |
OMIM:609638 |
Combined Oxidative Phosphorylation Deficiency 18 |
|
Tremor, Intrauterine growth retardation, Methylmalonic aciduria, Dysmetria |
OMIM:615578 |
Galloway-Mowat Syndrome 1 |
|
Hypoplasia of the iris, Cataract, Optic atrophy, Opacification of the corneal stroma |
OMIM:251300 |
Spastic Ataxia 5, Autosomal Recessive |
|
Spastic ataxia, Dystonia, Ataxia, Dysmetria, Dysdiadochokinesis, Myoclonus, Spastic paraparesis, ... |
OMIM:614487 |
Mosaic Trisomy 16 |
|
Syndactyly, Single transverse palmar crease, Short thumb, Patent ductus arteriosus, Abnormal lung... |
ORPHA:1708 |
Mercury Poisoning |
|
Tremor, Hypokalemia, Acute kidney injury, Dystonia |
ORPHA:330021 |
Kufor-Rakeb Syndrome |
|
Torticollis, Ataxia, Parkinsonism, Tremor, Rigidity, Paraparesis, Babinski sign, Spastic parapleg... |
OMIM:606693 |
1Q21.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Patent ductus arteriosus, Short foot, Hand polydactyly, Foo... |
ORPHA:250989 |
Joubert Syndrome 14 |
|
Intracranial hemorrhage, Hypertension, Postaxial polydactyly |
OMIM:614424 |
Developmental And Epileptic Encephalopathy 72 |
|
Hyperkinetic movements |
OMIM:618374 |
Hyperuricemia, Hprt-Related |
|
Hyperuricemia, Renal insufficiency, Nephrolithiasis, Hyperuricosuria |
OMIM:300323 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Rhizomelia, Congestive heart failure, Palmoplantar cutis laxa, Tibial bowing, Femoral bowing, Mes... |
OMIM:616482 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Metatarsus valgus, Aplasia/Hypoplasia of toe, Postaxial han... |
ORPHA:3082 |
Nevus Comedonicus Syndrome |
|
Finger syndactyly, Toe syndactyly, Preaxial polydactyly |
ORPHA:64754 |
Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616366 |
Mucoepithelial Dysplasia, Hereditary |
|
Cataract, Corneal neovascularization, Opacification of the corneal stroma, Keratoconjunctivitis |
OMIM:158310 |
Meckel Syndrome, Type 4 |
|
Intrauterine growth retardation, Bowing of the long bones, Postaxial hand polydactyly, Renal cyst |
OMIM:611134 |
Pontocerebellar Hypoplasia, Type 4 |
|
Spasticity, Hypertonia, Myoclonus |
OMIM:225753 |
X-Linked Intellectual Disability, Najm Type |
|
Cataract, Optic atrophy, Optic nerve hypoplasia, Chorioretinal coloboma |
ORPHA:163937 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Single transverse palmar crease, Patent ductus arteriosus, Broad thumb, Clinodactyly of the 5th f... |
ORPHA:329224 |
Avian Influenza |
|
Miscarriage, Pneumonia, Congestive heart failure, Pneumothorax, Pleural effusion |
ORPHA:454836 |
Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Adrenocortical cytomegaly, Redundant skin, Elevated circulating alpha-fetop... |
ORPHA:116 |
Kapur-Toriello Syndrome |
|
Single transverse palmar crease, Camptodactyly of finger, Short thumb, Patent ductus arteriosus, ... |
OMIM:244300 |
Atypical Juvenile Parkinsonism |
|
Resting tremor, Involuntary movements, Rigidity, Abnormal pyramidal sign, Gait ataxia, Bradykines... |
ORPHA:391411 |
Oculopharyngodistal Myopathy 4 |
|
Tremor, Postural tremor, Elevated circulating creatine kinase concentration |
OMIM:619790 |
Knobloch Syndrome 1 |
|
Attenuation of retinal blood vessels, Retinal detachment, Optic disc pallor, Band keratopathy, Ch... |
OMIM:267750 |
Classic Multiminicore Myopathy |
|
Congestive heart failure, Hip dysplasia, Right ventricular failure |
ORPHA:324604 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Congestive heart failure, Recurrent pneumonia, Hip dislocation, Elbow flexion contracture, Arteri... |
ORPHA:1900 |
Fabry Disease |
|
Transient ischemic attack, Angina pectoris, Myocardial infarction, Abnormality of the hand, Conge... |
OMIM:301500 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Bone spicule pigmentation of the retina, Cataract, Decreased sensory nerve conduction velocity, O... |
OMIM:609033 |
Monosomy 18Q |
|
Left-to-right shunt, Arachnodactyly, Abnormal palmar dermatoglyphics, Tapered finger, Left aortic... |
ORPHA:1600 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Ataxia, Tapered finger, Tremor, Babinski sign, Dysmetria, Gait ataxia, Hypertonia, Myoclonus, Int... |
OMIM:616505 |
Acute Radiation Syndrome |
|
Scaling skin, Skin ulcer |
ORPHA:454831 |
Cutis Marmorata Telangiectatica Congenita |
|
Multicystic kidney dysplasia, Telangiectasia of the skin, Patent ductus arteriosus, Arterial sten... |
ORPHA:1556 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type |
|
Ataxia, Urinary incontinence, Hyperkinetic movements, Truncal ataxia, Slender finger, Adducted thumb |
OMIM:300243 |
Aneurysm Of Sinus Of Valsalva |
|
Aortic regurgitation, Congestive heart failure, Heart murmur, Stroke, Dilatation of the sinus of ... |
ORPHA:1054 |
Alexander Disease Type Ii |
|
Ataxia, Rigidity, Babinski sign, Spasticity, Spastic paraparesis, Palatal tremor, Urinary bladder... |
ORPHA:363722 |
Primary Dystonia, Dyt2 Type |
|
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... |
ORPHA:99657 |
Feingold Syndrome Type 1 |
|
Renal dysplasia, Renal insufficiency, Tricuspid stenosis, Abnormality of the kidney, Patent ductu... |
ORPHA:391641 |
Congenital Sialidosis Type 2 |
|
Ataxia, Abnormality of the kidney, Dysmetria, Polydactyly, Myoclonus, Spasticity, Petechiae |
ORPHA:93400 |
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium |
|
Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy |
ORPHA:440727 |
Methylmalonic Aciduria, Cbla Type |
|
Methylmalonic acidemia, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Tremor, Hyperamm... |
OMIM:251100 |
Laubry-Pezzi Syndrome |
|
Aortic regurgitation, Abnormal coronary artery morphology, Mildly reduced left ventricular ejecti... |
ORPHA:99094 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Hydroureter, Megacystis, Fetal megacystis, Neonatal death, Hydronephrosis |
OMIM:619362 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Neurogenic bladder, Congenital hip dislocation, Ataxia, Urinary incontinence, Elevated circulatin... |
ORPHA:496641 |
Chromosome 17Q12 Deletion Syndrome |
|
Long toe, Hypoplasia of the bladder, Recurrent urinary tract infections, Multicystic kidney dyspl... |
OMIM:614527 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Metaphyseal dysplasia, Short metacarpal, Brachydactyly, Short stature, Metaphyseal chondrodysplas... |
OMIM:250410 |
Hb Bart'S Hydrops Fetalis |
|
Congestive heart failure, Pericarditis |
ORPHA:163596 |
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities |
|
Retinal arteriolar constriction, Optic atrophy |
OMIM:249660 |
Septooptic Dysplasia |
|
Polydactyly, Short finger |
OMIM:182230 |
Kapur-Toriello Syndrome |
|
Patent ductus arteriosus, Hypoplasia of penis, Tetralogy of Fallot |
ORPHA:2328 |
Tay-Sachs Disease |
|
Exaggerated startle response, Incoordination, Dystonia, Increased serum beta-hexosaminidase, Prec... |
ORPHA:845 |
Focal Dermal Hypoplasia |
|
Finger syndactyly, Toe syndactyly, Telangiectasia of the skin, Abnormal palmar dermatoglyphics, C... |
ORPHA:2092 |
Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Clinodactyly of the 5th finger, Pho... |
ORPHA:3103 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Weakness due to upper motor neuron dysfunction, Parkinsonism, Paraparesis, Babinski sign, Progres... |
ORPHA:275872 |
Pparg-Related Familial Partial Lipodystrophy |
|
Congestive heart failure, Prominent veins on trunk, Hypertension, Hypertrophic cardiomyopathy, Co... |
ORPHA:79083 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hyperphosphaturia, Proteinuria, Ataxia, Spastic tetraparesis, Abnormal pyramidal sign, Renal tubu... |
ORPHA:436271 |
Joubert Syndrome 32 |
|
Postaxial foot polydactyly, Hypertrophic cardiomyopathy, Postaxial hand polydactyly |
OMIM:617757 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Dystoni... |
OMIM:619725 |
Leukodystrophy, Hypomyelinating, 11 |
|
Tremor, Spasticity, Ataxia, Myoclonus |
OMIM:616494 |
Hurler Syndrome |
|
Retinal degeneration, Corneal opacity, Opacification of the corneal stroma |
OMIM:607014 |
Baraitser-Winter Syndrome 1 |
|
Patent ductus arteriosus, Micropenis, Aortic valve stenosis |
OMIM:243310 |
Diamond-Blackfan Anemia 7 |
|
Vesicoureteral reflux, Patent ductus arteriosus, Tetralogy of Fallot, Horseshoe kidney |
OMIM:612562 |
Joubert Syndrome 2 |
|
Renal insufficiency, Ataxia, Postaxial hand polydactyly, Renal cyst, Postaxial foot polydactyly, ... |
OMIM:608091 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Postaxial polydactyly, Postaxial hand polydactyly, Patent ductus arteriosus, Coarctation of aorta... |
OMIM:617088 |
Schimke Immunoosseous Dysplasia |
|
Astigmatism, Opacification of the corneal stroma |
OMIM:242900 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Accelerated atherosclerosis, Abnormal atrioventricular conduction, Precocious atherosclerosis, Su... |
ORPHA:280365 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Recurrent urinary tract infections, Short stature, Growth delay, Hypoalbuminemia, Hypocalcemia, U... |
OMIM:613658 |
Peroxisome Biogenesis Disorder 1B |
|
Hyperoxaluria, Renal cyst, Epiphyseal stippling |
OMIM:601539 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Congestive heart failure, Tachycardia |
ORPHA:90037 |
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type) |
|
Neurogenic bladder, Involuntary movements, Abnormal pyramidal sign, Dysmetria, Myoclonus |
OMIM:619780 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Patent ductus arteriosus, Atrial flutter, Overriding aorta, Vascular ring |
OMIM:601927 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary... |
ORPHA:79404 |
Scorpion Envenomation |
|
Hemifacial spasm, Ketonuria, Increased circulating NT-proBNP concentration, Ataxia, Tremor, Eryth... |
ORPHA:466677 |
Spinocerebellar Ataxia Type 1 |
|
Postural tremor, Chorea, Slurred speech, Dysmetria, Bradykinesia, Progressive cerebellar ataxia, ... |
ORPHA:98755 |
Optic Atrophy 8 |
|
Optic atrophy, Prolonged somatosensory evoked potentials, Abnormal auditory evoked potentials |
OMIM:616648 |
Developmental And Epileptic Encephalopathy 109 |
|
Intrauterine growth retardation, Spasticity, Myoclonus, Gait ataxia |
OMIM:620145 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Patent ductus arteriosus |
OMIM:617044 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Hypogonadotropic hypogonadism, Short stature, Ataxia, Tremor, Hip dislocation, Abnormal pyramidal... |
OMIM:614381 |
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Ataxia, Involuntary movements, Rigidity, Chorea, Babinski sign, Clumsiness, Blepharospasm, Atheto... |
OMIM:617282 |
Pelger-Huet Anomaly |
|
Upper limb undergrowth, Lower limb hypertonia, Polydactyly, Short 3rd metacarpal, Mild short stat... |
OMIM:169400 |
Mucopolysaccharidosis Type 6 |
|
Opacification of the corneal stroma |
ORPHA:583 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Abnormal cardiac ventricular function, Vascular dilatation, Congestive heart failure, Dilatation ... |
ORPHA:90349 |
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Dystonia, Ataxia, Dysmetria, Spastic dysarthria, Dysdiadochokinesis, Myoclonus, Spastic parapares... |
ORPHA:313772 |
Suleiman-El-Hattab Syndrome |
|
Single transverse palmar crease, Polydactyly, Clinodactyly, Hydronephrosis, Brachydactyly |
OMIM:618950 |
Bardet-Biedl Syndrome 20 |
|
Preaxial foot polydactyly, Postaxial hand polydactyly, 2-3 toe syndactyly, Postaxial polydactyly |
OMIM:619471 |
Mucopolysaccharidosis, Type Ivb |
|
Corneal opacity, Opacification of the corneal stroma |
OMIM:253010 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Patent ductus arteriosus, Renal cyst, Coarctation of aorta, Mitral stenosis, Renal dysplasia |
OMIM:617260 |
Oromandibular Dystonia |
|
Torticollis, Generalized dystonia, Blepharospasm, Hyperkinetic movements, Limb dystonia, Lingual ... |
ORPHA:93958 |
Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Tremor, Hype... |
ORPHA:247585 |
Microphthalmia With Limb Anomalies |
|
Venous insufficiency, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinoda... |
ORPHA:1106 |
Rheumatic Fever |
|
Chorea, Erythema, Nephrotic syndrome, Pallor, Fasciculations, Hemiballismus |
ORPHA:3099 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Areflexia of upper limbs, Tremor, Intrinsic hand muscle atrophy, Polyminimyoclonus, Clubbing of f... |
OMIM:619574 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Optic atrophy, Rod-cone dys... |
OMIM:268315 |
Inherited Creutzfeldt-Jakob Disease |
|
Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait... |
ORPHA:282166 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Ataxia, Polyuria, Proximal tubulopathy, Myoclonus, Type I diabetes mellitus |
OMIM:560000 |
Simple Cryoglobulinemia |
|
Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Raynaud phenomenon, Congestive ... |
ORPHA:91139 |
Pontocerebellar Hypoplasia, Type 1D |
|
Tongue fasciculations, Fasciculations, Intrauterine growth retardation, Spasticity, Adducted thumb |
OMIM:618065 |
Null Syndrome |
|
Decreased nerve conduction velocity, Optic atrophy, Peripheral demyelination, Abnormality of peri... |
ORPHA:280234 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Short humerus, Short metacarpal, Tricuspid regurgitation, Noncompaction cardiomyopathy, Congestiv... |
ORPHA:508542 |
Distal Deletion 10Q |
|
Scapular winging, Sandal gap, Single transverse palmar crease, Tapered finger, 2-3 toe cutaneous ... |
ORPHA:96148 |
Sifrim-Hitz-Weiss Syndrome |
|
Renal insufficiency, Patent ductus arteriosus, Coarctation of aorta, Vesicoureteral reflux, Micro... |
OMIM:617159 |
Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Short stature, Postaxial polydactyly, Renal hypoplasia, Renal cyst, Hyperto... |
OMIM:618460 |
Elastosis Perforans Serpiginosa |
|
Epidermal acanthosis, Cutis laxa |
ORPHA:79148 |
Smith-Lemli-Opitz Syndrome |
|
Micromelia, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Renal cyst, Hypertonia, Hy... |
OMIM:270400 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Hypertrophic cardiomyopathy, Severely r... |
ORPHA:444013 |
Joubert Syndrome With Hepatic Defect |
|
Multicystic kidney dysplasia, Renal insufficiency, Ataxia, Tremor, Postaxial hand polydactyly, Oc... |
ORPHA:1454 |
Cantú Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Short hallux, Coxa valga, Patent ductus arteriosus, Hype... |
ORPHA:1517 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Congenital hip dislocation, Dystonia, Coxa valga, Chorea, Decreased LDL cholesterol concentration... |
ORPHA:404454 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Patent ductus arteriosus, Hydronephrosis |
OMIM:620327 |
Diaphanospondylodysostosis |
|
Nephrogenic rest, Nephroblastomatosis, Disproportionate short-trunk short stature, Horseshoe kidn... |
OMIM:608022 |
Spinocerebellar Ataxia 34 |
|
Ataxia, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Dysdiadochokinesis, Fasciculations, Sp... |
OMIM:133190 |
Harrod Syndrome |
|
Multicystic kidney dysplasia, Arachnodactyly, Hypospadias, Abnormal shoulder morphology, Abnormal... |
ORPHA:2115 |
Schuurs-Hoeijmakers Syndrome |
|
Patent ductus arteriosus, Large hands |
OMIM:615009 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Short humerus, Proximal placement of thumb, Absent radius, Hand polydactyly, Transposition of the... |
OMIM:314390 |
Scheie Syndrome |
|
Corneal opacity, Retinal degeneration |
OMIM:607016 |
Chromosome 9P Deletion Syndrome |
|
Long toe, Sandal gap, Hallux varus, Tapered finger, Patent ductus arteriosus, Heart murmur, Derma... |
OMIM:158170 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Ataxia, Short stature, Poor motor coordination, Tremor, Dysmetria, Gait ataxia, Oculomotor apraxi... |
ORPHA:1170 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... |
OMIM:187300 |
Multiple Endocrine Neoplasia, Type I |
|
Hypercalcemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, ... |
OMIM:131100 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Growth delay, Aminoaciduria, Myoclonus, Elevated hepatic iron concentration |
OMIM:614946 |
Combined Oxidative Phosphorylation Deficiency 27 |
|
Chorea, Hyperammonemia, Opisthotonus, Tetraparesis, Myoclonus, Dystonia |
OMIM:616672 |
Acrofacial Dysostosis 1, Nager Type |
|
Hallux valgus, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Broad hallux, Overlapping toe, Ab... |
OMIM:154400 |
Muscular Dystrophy, Duchenne Type |
|
Abnormal EKG, Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Arrhythmia |
OMIM:310200 |
Progressive Myoclonic Epilepsy Type 3 |
|
Progressive truncal ataxia, Progressive cerebellar ataxia, Chin myoclonus, Myoclonus, Limb myoclonus |
ORPHA:263516 |
Shashi-Pena Syndrome |
|
Patent ductus arteriosus, Dilation of Virchow-Robin spaces, Unilateral renal agenesis |
OMIM:617190 |
Cat Eye Syndrome |
|
Renal agenesis, Patent ductus arteriosus, Horseshoe kidney, Total anomalous pulmonary venous retu... |
OMIM:115470 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Severe short stature, Rigidity, Skin ulcer, Hypertonia, Scaling skin, Spasticity, Dry skin |
ORPHA:2526 |
Meckel Syndrome, Type 1 |
|
Syndactyly, Bowing of the long bones, Camptodactyly of finger, Postaxial polydactyly, Patent duct... |
OMIM:249000 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Dystonia, Sandal gap, Long fingers, Cutaneous syndactyly, Hypocalcemia, Toe clinodactyly, Hydrone... |
OMIM:620330 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Epidermal acanthosis, Paralysis, Short toe, Erythema, Growth delay, Palmar hyperlinearity, Palmop... |
OMIM:242100 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Corneal arcus, Cataract |
OMIM:219150 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Short stature, Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Myoc... |
ORPHA:442835 |
Cystinuria |
|
Hematuria, Hyperuricemia, Renal insufficiency, Nephrolithiasis |
ORPHA:214 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Speech apraxia, Multicystic kidney dysplasia, Choreoathetosis, Hand polydactyly, Dystonia, Paroxy... |
ORPHA:261197 |
Graves Disease, Susceptibility To, 1 |
|
Congestive heart failure |
OMIM:275000 |
Vacterl/Vater Association |
|
Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis... |
ORPHA:887 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Patent ductus arteriosus, Pulmonic stenosis, Coarctation of aorta |
ORPHA:284169 |
Radio-Renal Syndrome |
|
Multicystic kidney dysplasia, Severe short stature, Renal agenesis, Micromelia, Renal hypoplasia/... |
ORPHA:3015 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Postaxial hand polydactyly, Mitral regurgitation |
ORPHA:83473 |
Congenital Generalized Lipodystrophy |
|
Large hands, Hypertrophic cardiomyopathy, Prominent superficial veins, Congestive heart failure |
ORPHA:528 |
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome |
|
Congestive heart failure |
ORPHA:500533 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Coronary artery atherosclerosis, Atheroscl... |
ORPHA:2348 |
Carpenter Syndrome 2 |
|
Short digit, Tricuspid regurgitation, Single transverse palmar crease, Postaxial polydactyly, Pat... |
OMIM:614976 |
Microphthalmia, Isolated, With Corectopia |
|
Ectopia pupillae |
OMIM:156900 |
Campomelia, Cumming Type |
|
Pancreatic cysts, Death in infancy, Multicystic kidney dysplasia, Multiple renal cysts |
ORPHA:1318 |
Oculoectodermal Syndrome |
|
Chorioretinal atrophy, Microcornea, Astigmatism, Opacification of the corneal stroma, Limbal dermoid |
OMIM:600268 |
Orofaciodigital Syndrome Type 3 |
|
Postaxial hand polydactyly, Stage 5 chronic kidney disease, Postaxial foot polydactyly, Short ste... |
ORPHA:2752 |
Neuroblastoma, Susceptibility To, 1 |
|
Elevated urinary catecholamine level, Ataxia, Elevated urinary dopamine level, Abnormality of uri... |
OMIM:256700 |
Pseudoaminopterin Syndrome |
|
Brachydactyly, Overlapping toe, Single transverse palmar crease, Limited elbow movement, Postaxia... |
ORPHA:221120 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Decreased serum creatinine |
ORPHA:289601 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Cataract, Retinal atrophy, Optic atrophy, Buphthalmos, Hypoplasia of the retina, Retinal dysplasi... |
OMIM:253280 |
Atelosteogenesis Type I |
|
Short femur, Rhizomelia, Abnormal ossification involving the femoral head and neck, Abnormal fibu... |
ORPHA:1190 |
Joubert Syndrome 39 |
|
Joint contracture of the 5th finger, Postaxial polydactyly |
OMIM:619562 |
Myoclonic Epilepsy Of Unverricht And Lundborg |
|
Ataxia, Myoclonus |
OMIM:254800 |
Spinocerebellar Ataxia 1 |
|
Chorea, Babinski sign, Dysmetria, Limb ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis,... |
OMIM:164400 |
Cockayne Syndrome B |
|
Abnormal peripheral myelination, Abnormal auditory evoked potentials, Decreased nerve conduction ... |
OMIM:133540 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hallux valgus, Rocker bottom foot, Camptodactyly of finger, Patent ductus arteriosus, Elbow flexi... |
OMIM:602782 |
Emanuel Syndrome |
|
Truncus arteriosus, Unilateral renal agenesis, Patent ductus arteriosus, Renal hypoplasia, Aortic... |
ORPHA:96170 |
Charcot-Marie-Tooth Disease Type 1F |
|
Hand muscle atrophy, Proximal muscle weakness in upper limbs, Scapular winging, Urinary incontine... |
ORPHA:101085 |
Dystonia 34, Myoclonic |
|
Torticollis, Writer's cramp, Hand tremor, Myoclonus, Head tremor, Dystonia |
OMIM:619724 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Ulnar deviation of the hand, Metaphyseal widening, Short long bone, Narrow greater sciatic notch,... |
OMIM:263210 |
Sacral Agenesis With Vertebral Anomalies |
|
Neonatal death, Unilateral renal agenesis, Persistent cloaca |
OMIM:615709 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Syndactyly, Proximal placement of thumb, Patent ductus arteriosus, Cardiomyopathy, Short palm, Cl... |
OMIM:217980 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Short metatarsal, Hand monodactyly, Patella... |
OMIM:609945 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Renal tubular dysfunction, Patent ductus arteriosus, Double outlet right ventricle |
OMIM:614886 |
Acro-Renal-Ocular Syndrome |
|
Triphalangeal thumb, Vesicoureteral reflux, Hypoplasia of the ulna, Finger syndactyly, Broad hall... |
ORPHA:959 |
Sickle Cell Anemia |
|
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia |
ORPHA:232 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Epidermal acanthosis, Elevated circulating C-reactive protein concentration, Thyroiditis, Palmopl... |
OMIM:617388 |
Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Ataxia, Tremor, Abnormal pyramidal... |
ORPHA:3008 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Patent ductus arteriosus, Pulmonary arterial hypertension, Micropenis |
ORPHA:2519 |
Leukodystrophy, Hypomyelinating, 10 |
|
Spasticity, Babinski sign, Arachnodactyly, Hyperkinetic movements |
OMIM:616420 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Multicystic kidney dysplasia, Hypospadias, Nephroblastoma, Short stature, Postnatal growth retard... |
OMIM:257300 |
Meckel Syndrome, Type 6 |
|
Postaxial hand polydactyly, Renal cyst, Horseshoe kidney, Postaxial foot polydactyly, Aplasia of ... |
OMIM:612284 |
Gm1-Gangliosidosis, Type I |
|
Death in infancy, Congestive heart failure, Dilated cardiomyopathy, Cherry red spot of the macula... |
OMIM:230500 |
Microgastria-Limb Reduction Defect Syndrome |
|
Abnormal morphology of the radius, Multicystic kidney dysplasia, Renal agenesis, Aplastic clavicl... |
ORPHA:2538 |
Hypomandibular Faciocranial Dysostosis |
|
Patent ductus arteriosus |
OMIM:241310 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Patent ductus arteriosus, Hypoplasia of penis, Hypospadias |
ORPHA:77298 |
American Trypanosomiasis |
|
Myocarditis, Cardiomyopathy, Arrhythmia, Congestive heart failure |
ORPHA:3386 |
Dystonia 13, Torsion, Autosomal Dominant |
|
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... |
OMIM:607671 |
Acrorenal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Toe syndactyly, Renal agenesis, Hypoplastic scapulae, Split hand, Abnorma... |
OMIM:200980 |
12Q14 Microdeletion Syndrome |
|
Diabetes mellitus, Short stature, Ectopic kidney, Tremor, Renal hypoplasia, Horseshoe kidney, Cli... |
ORPHA:94063 |
Alstrom Syndrome |
|
Abnormality of the hand, Congestive heart failure, Dilated cardiomyopathy, Recurrent pneumonia, H... |
OMIM:203800 |
Neurodevelopmental Disorder With Spasticity And Poor Growth |
|
Generalized dystonia, Short stature, Single transverse palmar crease, Clonus, Ataxia, Oculomotor ... |
OMIM:618076 |
Chromosome Xp11.3 Deletion Syndrome |
|
Cataract, Posterior subcapsular cataract, Optic atrophy, Pigmentary retinopathy, Rod-cone dystrop... |
OMIM:300578 |
Acrofacial Dysostosis, Weyers Type |
|
Clinodactyly of the 5th finger, Overlapping fingers, Postaxial hand polydactyly, Small hand |
ORPHA:952 |
Mepan Syndrome |
|
Axial dystonia, Dystonia, Ataxia, Hemidystonia, Chorea, Myoclonus, Limb dystonia, Spasticity, Cra... |
ORPHA:508093 |
Amoebiasis Due To Entamoeba Histolytica |
|
Lung abscess, Congestive heart failure, Pleural empyema, Constrictive pericarditis, Pleural effusion |
ORPHA:67 |
Mirage Syndrome |
|
Rocker bottom foot, Radial club hand, Patent ductus arteriosus, Intracranial hemorrhage, Talipes ... |
OMIM:617053 |
2P15P16.1 Microdeletion Syndrome |
|
Lower limb spasticity, Multicystic kidney dysplasia, Sandal gap, Camptodactyly of finger, Tapered... |
ORPHA:261349 |
Lowe Oculocerebrorenal Syndrome |
|
Renal insufficiency, Hyperphosphaturia, Short stature, Elevated circulating creatine kinase conce... |
OMIM:309000 |
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Patent ductus arteriosus, Microscopic hematuria |
ORPHA:86818 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Retinal detachment, Cataract, Optic nerve hypoplasia, Optic atrophy, Abnormality iris morphology,... |
ORPHA:370959 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto... |
ORPHA:137675 |
Kleefstra Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Hypospadias, Pulmonary artery stenosis, Renal cyst, Coa... |
ORPHA:261494 |
Rhombencephalosynapsis |
|
Finger syndactyly, Ataxia, Abnormal renal morphology, Polydactyly, Complete duplication of thumb ... |
ORPHA:59315 |
Early Myoclonic Encephalopathy |
|
Myoclonus |
ORPHA:1935 |
Dentatorubral Pallidoluysian Atrophy |
|
Ataxia, Involuntary movements, Dyssynergia, Dysmetria, Gait ataxia, Choreoathetosis, Limb ataxia,... |
ORPHA:101 |
Purine Nucleoside Phosphorylase Deficiency |
|
Recurrent urinary tract infections, Hypouricemia, Increased circulating guanosine concentration, ... |
OMIM:613179 |
Intellectual Disability-Strabismus Syndrome |
|
Patent ductus arteriosus, Micropenis, Medullary nephrocalcinosis, Hypospadias |
ORPHA:363528 |
Spinocerebellar Ataxia 36 |
|
Incoordination, Ataxia, Babinski sign, Limb ataxia, Gait ataxia, Hypertonia, Tongue fasciculation... |
OMIM:614153 |
Ataxia With Vitamin E Deficiency |
|
Diabetes mellitus, Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dy... |
ORPHA:96 |
Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... |
ORPHA:199351 |
Congenital Alveolar Capillary Dysplasia |
|
Patent ductus arteriosus, Pulmonary arterial hypertension, Aortic valve stenosis, Tetralogy of Fa... |
ORPHA:210122 |
Mucopolysaccharidosis Type 3 |
|
Cataract, Corneal opacity, Optic atrophy, Pigmentary retinopathy, Opacification of the corneal st... |
ORPHA:581 |
Mucopolysaccharidosis, Type Iva |
|
Opacification of the corneal stroma |
OMIM:253000 |
Vipoma |
|
Diabetes mellitus, Hypercalcemia, Follicular thyroid carcinoma, Elevated circulating growth hormo... |
ORPHA:97282 |
Multifocal Motor Neuropathy |
|
Weakness of long finger extensor muscles, Fasciculations, Limited wrist extension |
ORPHA:641 |
Trisomy 20P |
|
Finger syndactyly, Incoordination, Hypospadias, Abnormality of the kidney, Camptodactyly of finge... |
ORPHA:261318 |
17Q12 Microdeletion Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Ureterocele, Renal hypoplasia/aplasia |
ORPHA:261265 |
20P13 Microdeletion Syndrome |
|
Finger syndactyly, Clinodactyly, Polydactyly, Brachydactyly |
ORPHA:313781 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Patent ductus arteriosus, Clinodactyly, Coarctation of aorta, Supravalvar pulmonary stenosis, Aor... |
OMIM:618164 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
Babinski sign, Myoclonus, Apraxia |
OMIM:618193 |
Episodic Ataxia, Type 5 |
|
Episodic ataxia, Ataxia, Myoclonus, Truncal ataxia |
OMIM:613855 |
Cockayne Syndrome A |
|
Cataract, Retinal atrophy, Abnormal peripheral myelination, Abnormal auditory evoked potentials, ... |
OMIM:216400 |
Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Hammertoe, Fasciculations |
OMIM:614436 |
Mitochondrial Complex I Deficiency, Nuclear Type 31 |
|
Myoclonus, Dysmetria |
OMIM:618251 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Postaxial polydactyly, Aplastic clavicle, Micromelia, Preaxial polydactyly, Pulmonary hypoplasia |
OMIM:616546 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Patent ductus arteriosus, Hydronephrosis |
ORPHA:457193 |
Isaacs Syndrome |
|
Fasciculations |
ORPHA:84142 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Patent ductus arteriosus, Ureteral triplication, Hydronephrosis |
OMIM:104350 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Persistent fetal circulation, Tricuspid regurgitation, Sandal gap, Patent ductus arteriosus, Smal... |
OMIM:612863 |
Thoracoabdominal Syndrome |
|
Patent ductus arteriosus, Renal agenesis, Hypospadias, Transposition of the great arteries |
OMIM:313850 |
Joubert Syndrome With Renal Defect |
|
Renal insufficiency, Ataxia, Tremor, Hand polydactyly, Oculomotor apraxia, Nephropathy, Abnormali... |
ORPHA:220497 |
Myoclonus, Intractable, Neonatal |
|
Athetosis, Chorea, Myoclonus |
OMIM:617235 |
Jalili Syndrome |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... |
OMIM:217080 |
Lathosterolosis |
|
Microcornea, Cataract, Opacification of the corneal stroma |
ORPHA:46059 |
Pediatric-Onset Graves Disease |
|
Puberty and gonadal disorders, Tremor, Thyrotoxicosis with diffuse goiter, Increased circulating ... |
ORPHA:525731 |
Developmental And Epileptic Encephalopathy 54 |
|
Myoclonus |
OMIM:617391 |
Genitopalatocardiac Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Postaxial hand polydactyly, Intrauterine growth retard... |
ORPHA:2075 |
Atopic Keratoconjunctivitis |
|
Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Corneal neovascularization |
ORPHA:163934 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Scapular winging, Generalized dystonia, Ataxia, Elevated circulating creatine kinase concentratio... |
OMIM:614298 |
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
|
Elevated hemoglobin A1c, Tremor, Babinski sign, 2-3 toe syndactyly, Renal tubular dysfunction, Hy... |
OMIM:616539 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Ketonuria, Ataxia, Lacticaciduria, Myoclonus, Dystonia, Neonatal death |
OMIM:619167 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Scapular winging, Down-sloping shoulders, Tapered finger, Renal cyst, Clinodactyly |
OMIM:615560 |
Seckel Syndrome 10 |
|
Congestive heart failure, Metaphyseal widening, Cone-shaped epiphysis, Slender long bone, Hyperte... |
OMIM:617253 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 9 |
|
Morning myoclonic jerks, Episodic ataxia, Myoclonus, Truncal ataxia |
OMIM:607682 |
Weill-Marchesani Syndrome 1 |
|
Patent ductus arteriosus, Broad palm, Mitral regurgitation, Pulmonic stenosis, Broad phalanges of... |
OMIM:277600 |
Xeroderma Pigmentosum |
|
Conjunctival telangiectasia, Cataract, Keratitis, Optic atrophy, Opacification of the corneal str... |
ORPHA:910 |
Cystic Echinococcosis |
|
Renal cyst, Membranous nephropathy, Ovarian cyst, Hyperbilirubinemia, Hepatic cysts |
ORPHA:400 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Abnormal metacarpophalangeal joint morphology, Portal hypertension, Congestive heart failure, Car... |
ORPHA:465508 |
Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Axial dystonia, Torticollis, Writer's cramp, Limb tremor, Focal dystonia, Myoclonus, Head tremor,... |
ORPHA:420492 |
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome |
|
Patent ductus arteriosus, Talipes equinovarus, Camptodactyly, Clinodactyly, Brachydactyly |
ORPHA:397709 |
Floating-Harbor Syndrome |
|
Renal cyst, Nephrocalcinosis, Humeral pseudarthrosis, Dislocated radial head, Short metacarpal, H... |
ORPHA:2044 |
Riboflavin Transporter Deficiency |
|
Ataxia, Tremor, Hypogonadism, Myoclonus, Diabetes insipidus |
ORPHA:97229 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hyperphosphaturia, Proteinuria, Ataxia, Truncal ataxia, Renal tubular dysfunction, Aminoaciduria,... |
OMIM:220110 |
3Q29 Microdeletion Syndrome |
|
Pulmonary arterial hypertension, Patent ductus arteriosus, Hypospadias, Horseshoe kidney |
ORPHA:65286 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Syndactyly, Tricuspid regurgitation, Patent ductus arteriosus, Mesomelia, Pulmonary artery atresi... |
OMIM:616894 |
Opticocochleodentate Degeneration |
|
Optic atrophy |
OMIM:258700 |
Congenital Tracheomalacia |
|
Pneumonia, Patent ductus arteriosus, Pneumothorax, Partial anomalous pulmonary venous return, Bro... |
ORPHA:95430 |
Fanconi Anemia, Complementation Group F |
|
Patent ductus arteriosus, Renal hypoplasia, Microphallus, Vesicoureteral reflux, Pelvic kidney |
OMIM:603467 |
Acute Interstitial Pneumonia |
|
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentration |
ORPHA:79126 |
X-Linked Intellectual Disability, Cabezas Type |
|
Hypoplasia of penis, Toe syndactyly, Sandal gap, Camptodactyly of finger, Down-sloping shoulders,... |
ORPHA:85293 |
Amyotrophic Lateral Sclerosis 18 |
|
Spasticity, Fasciculations |
OMIM:614808 |
Sweeney-Cox Syndrome |
|
2-4 finger syndactyly, 2-5 finger cutaneous syndactyly, Long fingers, Patent ductus arteriosus, B... |
OMIM:617746 |
Sporadic Creutzfeldt-Jakob Disease |
|
Ataxia, Babinski sign, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Myo... |
ORPHA:204 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dilated cardiomyopathy, Hy... |
ORPHA:99901 |
Waldenström Macroglobulinemia |
|
Gastrointestinal hemorrhage, Epistaxis, Congestive heart failure, Vasculitis, Retinal hemorrhage,... |
ORPHA:33226 |
Acrocallosal Syndrome |
|
Postaxial hand polydactyly, Triphalangeal thumb |
ORPHA:36 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Neonatal death, Coronary artery fistula, Patent ductus arteriosus, Unilateral renal agenesis |
OMIM:620024 |
Genitopatellar Syndrome |
|
Hip contracture, Multicystic kidney dysplasia, Short stature, Hypoplastic ilia, Patellar aplasia,... |
ORPHA:85201 |
Spondylocarpotarsal Synostosis Syndrome |
|
Carpal synostosis, Epiphyseal dysplasia, Scapular winging, Short metacarpal, Bowed humerus, Tarsa... |
OMIM:272460 |
Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Abnormal pupil morphology, Aganglionic megacolon |
ORPHA:2151 |
Transaldolase Deficiency |
|
Patent ductus arteriosus, Coarctation of aorta, Telangiectasia |
OMIM:606003 |
Mucopolysaccharidosis Type 1 |
|
Recurrent respiratory infections, Congestive heart failure, Split hand, Hypertrophic cardiomyopat... |
ORPHA:579 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hallux valgus, Toe syndactyly, Hypospadias, Arachnodactyly, Unilateral renal agenesis, Short stat... |
ORPHA:464306 |
Proteus Syndrome |
|
Epidermal acanthosis |
OMIM:176920 |
Branchiootorenal Syndrome 1 |
|
Renal malrotation, Congenital hip dislocation, Unilateral renal agenesis, Renal steatosis, Euthyr... |
OMIM:113650 |
Diamond-Blackfan Anemia 10 |
|
Patent ductus arteriosus, Renal duplication, Ectopic kidney |
OMIM:613309 |
Hec Syndrome |
|
Abnormal retinal vascular morphology, Abnormal pupil morphology, Developmental cataract |
ORPHA:2119 |
Neuromuscular Oculoauditory Syndrome |
|
Elevated circulating creatine kinase concentration, Multiple renal cysts, Talipes equinovarus, Re... |
OMIM:618733 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Rocker bottom foot, Single transverse palmar crease, Postaxial polydactyly, Long fingers, Palmopl... |
OMIM:617527 |
Marfan Syndrome |
|
Aortic regurgitation, Tricuspid regurgitation, Arachnodactyly, Protrusio acetabuli, Equinus calca... |
OMIM:154700 |
Eisenmenger Syndrome |
|
Ventricular tachycardia, Aortopulmonary window, Supraventricular tachycardia, Tricuspid regurgita... |
ORPHA:97214 |
Parkinson Disease 1, Autosomal Dominant |
|
Resting tremor, Parkinsonism, Rigidity, Urinary urgency, Bradykinesia, Myoclonus, Dystonia |
OMIM:168601 |
Focal Facial Dermal Dysplasia Type Iv |
|
Hemiparesis, Abnormal epidermal morphology |
ORPHA:398189 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Patent ductus arteriosus, Recurrent upper respiratory tract infections, Recurrent pneumonia |
OMIM:619769 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Recurrent respiratory infections, Calcaneal epiphyseal stippling, Abnormal ossification involving... |
ORPHA:79345 |
Myoclonic Epilepsy Of Infancy |
|
Hemiplegia, Poor motor coordination, Myoclonus, Poor hand-eye coordination |
ORPHA:86909 |
Noonan Syndrome 10 |
|
Mitral stenosis, Patent ductus arteriosus, Coarctation of aorta, Hypertrophic cardiomyopathy, Mit... |
OMIM:616564 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Death in infancy, Multicystic kidney dysplasia, Hydroureter, Megacystis |
ORPHA:2241 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent urinary tract infections, Aplasia of the thymus, Thyroiditis, Hypocalcemic tetany, Hypo... |
ORPHA:83471 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Toe syndactyly, Single transverse palmar crease, Proximal placement of thumb, Limited elbow movem... |
OMIM:610759 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Psoriasiform lesion |
ORPHA:169154 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Ketonuria, Ataxia, Spastic hemiparesis, Hyperammonemia, 3-Methylglutaric aciduria, Pallor, Hyperu... |
ORPHA:20 |
Oliver Syndrome |
|
Camptodactyly of finger, Short toe, Postaxial hand polydactyly, Elbow flexion contracture, Postax... |
ORPHA:2920 |
Amyotrophic Lateral Sclerosis 1 |
|
Pseudobulbar paralysis, Fasciculations, Spasticity |
OMIM:105400 |
Lennox-Gastaut Syndrome |
|
Myoclonus |
ORPHA:2382 |
Episodic Ataxia Type 7 |
|
Episodic ataxia, Hyperkinetic movements |
ORPHA:209970 |
Fabry Disease |
|
Conjunctival telangiectasia, Bundle branch block, Transient ischemic attack, Angina pectoris, Tel... |
ORPHA:324 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Abnormal pyrami... |
ORPHA:99750 |
Hereditary Hyperekplexia |
|
Ataxia, Rigidity, Hip dislocation, Hypertonia, Myoclonus, Fasciculations, Spasticity |
ORPHA:3197 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Tongue fasciculations, Fasciculations |
OMIM:613435 |
Branchio-Oculo-Facial Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Short stature, Preaxial hand polydactyly, Intrauter... |
ORPHA:1297 |
Amaurosis-Hypertrichosis Syndrome |
|
Cone/cone-rod dystrophy, Optic atrophy, Retinal dystrophy |
ORPHA:1021 |
Gorlin-Chaudhry-Moss Syndrome |
|
Patent ductus arteriosus, Abnormal metacarpal morphology, Short distal phalanx of finger |
ORPHA:2095 |
Epidermodysplasia Verruciformis, Susceptibility To, 3 |
|
Palmar pits, Epidermal acanthosis |
OMIM:618267 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Wolff-Parkinson-White syndrome, Patent ductus arteriosus, Partial anomalous pulmonary venous retu... |
OMIM:619343 |
Developmental And Epileptic Encephalopathy 23 |
|
Myoclonus |
OMIM:615859 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Neonatal death, Hand oligodactyly, Aplasia of the ulna |
OMIM:276822 |
Congenital Disorder Of Glycosylation, Type Il |
|
Hip dislocation, Polycystic kidney dysplasia |
OMIM:608776 |
Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Growth delay, Hypoplasia of penis, Myoclonus |
ORPHA:168593 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Urethral stricture, Palmoplantar keratoderma, Short stature, Scaling skin |
ORPHA:158668 |
De Barsy Syndrome |
|
Recurrent sinopulmonary infections, Congenital hip dislocation, Patent ductus arteriosus, Hypopla... |
ORPHA:2962 |
Pontocerebellar Hypoplasia, Type 7 |
|
Ataxia, Single transverse palmar crease, Spastic paraplegia, Spasticity, Opisthotonus, Choreoathe... |
OMIM:614969 |
Cranioectodermal Dysplasia 2 |
|
Syndactyly, Renal insufficiency, Rhizomelia, Short stature, Postaxial hand polydactyly, Renal cys... |
OMIM:613610 |
Distal Deletion 15Q |
|
Multicystic kidney dysplasia, Decreased serum insulin-like growth factor 1, Hypospadias, Single t... |
ORPHA:1596 |
Parkinson Disease, Late-Onset |
|
Resting tremor, Parkinsonism, Rigidity, Tremor, Urinary urgency, Bradykinesia, Dystonia |
OMIM:168600 |
Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Proximal placement of thumb, Hypertonia, Finger syndactyly, Multicystic kidn... |
ORPHA:818 |
Walker-Warburg Syndrome |
|
Retinal detachment, Cataract, Corneal opacity, Chorioretinal dysplasia, Retinal dystrophy, Optic ... |
ORPHA:899 |
Leber Optic Atrophy |
|
Central retinal vessel vascular tortuosity, Optic atrophy, Leber optic atrophy, Optic neuropathy |
OMIM:535000 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Hypospadias, Single transver... |
OMIM:300998 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Neonatal death, Sy... |
OMIM:619534 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Lower limb spasticity, Ataxia, Paraparesis, Oromotor apraxia, Clumsiness, Bradykinesia, Myoclonus... |
OMIM:617854 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Dry skin, Facial erythema, Palmoplantar keratoderma, Scaling skin, Flexion contracture of finger |
ORPHA:1010 |
Cutis Laxa, Autosomal Recessive, Type Ia |
|
Recurrent respiratory infections, Arachnodactyly, Ascending tubular aorta aneurysm, Vascular tort... |
OMIM:219100 |
Marden-Walker Syndrome |
|
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia... |
ORPHA:2461 |
Hunter-Macdonald Syndrome |
|
Aortic regurgitation, Epiphyseal dysplasia, Metatarsus adductus, Patent ductus arteriosus, 2-3 to... |
OMIM:611962 |
15q26 overgrowth syndrome |
|
Long toe, Renal agenesis, Abnormality of the kidney, Arachnodactyly, Tapered finger, Camptodactyl... |
DECIPHER:81 |
Microscopic Polyangiitis |
|
Gastrointestinal hemorrhage, Pericarditis, Epistaxis, Congestive heart failure, Vasculitis, Arrhy... |
ORPHA:727 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Nephrocalcinosis, Patent ductus arteriosus |
OMIM:618005 |
Mosaic Trisomy 9 |
|
Rocker bottom foot, Micromelia, Camptodactyly of finger, Elbow dislocation, Patent ductus arterio... |
ORPHA:99776 |
Heterotaxy, Visceral, 5, Autosomal |
|
Atrial reentry tachycardia, Ureteral duplication, Ureteral stenosis, Patent ductus arteriosus, Pa... |
OMIM:270100 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Tachycardia, Tricuspid regurgitation, Proteinuria, Heparan sulfate excretion in urine, Congestive... |
ORPHA:505248 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Hydroureter, Hypospadias, Patent ductus arteriosus, Pulmonary artery stenosis, Pulmonary lymphang... |
OMIM:265380 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Speech apraxia, Torticollis, Hemidystonia, Tapered finger, Tremor, Enuresis nocturna, Brachydactyly |
OMIM:619680 |
Restrictive Dermopathy |
|
Ureteral duplication, Hypospadias, Camptodactyly of finger, Scaling skin, Congenital adrenal hypo... |
ORPHA:1662 |
Immunodeficiency 96 |
|
Conjunctival telangiectasia, Multicystic kidney dysplasia |
OMIM:619774 |
Au-Kline Syndrome |
|
Overlapping toe, Postaxial polydactyly, Coxa valga, Hypertension, Aortic root aneurysm, Deep palm... |
OMIM:616580 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Osteolytic defects of the phalanges of the hand, Patent ductus arteriosus, Clubbing, Palmoplantar... |
OMIM:259100 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Rigidity, Athetosis, Myoclonus |
OMIM:618241 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Renal dysplasia, Ureteral duplication, Ureteral hypoplasia, Bladder trabeculation, Patent ductus ... |
OMIM:614080 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Lower limb spasticity, Decreased circulating cortisol level, Ataxia, Spastic tetraparesis, Abnorm... |
ORPHA:139396 |
Recombinant 8 Syndrome |
|
Camptodactyly of finger, Patent ductus arteriosus, Pulmonary artery stenosis, Patellar aplasia, C... |
ORPHA:96167 |
Mitochondrial Dna Depletion Syndrome 19 |
|
Spasticity, Hypospadias, Myoclonus, Tetraparesis |
OMIM:618972 |
Parkinson Disease 17 |
|
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia |
OMIM:614203 |
Mend Syndrome |
|
Redundant neck skin, Broad hallux, Overlapping toe, Short stature, Long fingers, 2-3 toe syndacty... |
OMIM:300960 |
Gaucher Disease, Type Iiic |
|
Opacification of the corneal stroma |
OMIM:231005 |
Johanson-Blizzard Syndrome |
|
Diabetes mellitus, Hypospadias, Single transverse palmar crease, Urethrovaginal fistula, Increase... |
OMIM:243800 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Recurrent urinary tract infections, Ataxia, Clonus, Upper limb postural tremor, Action tremor, Tr... |
ORPHA:99027 |
Hemimegalencephaly |
|
Hemiparesis, Myoclonus |
ORPHA:99802 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Dystonia, Ataxia, Poor motor coordination, Tremor, Glutaric aciduria, Chorea, Chronic kidney dise... |
ORPHA:25 |
Marfan Syndrome |
|
Spontaneous pneumothorax, Arachnodactyly, Limited elbow movement, Protrusio acetabuli, Congestive... |
ORPHA:558 |
Culler-Jones Syndrome |
|
Postaxial polydactyly |
OMIM:615849 |
Alg12-Cdg |
|
Recurrent respiratory infections, Sandal gap, Ulnar deviation of the wrist, Proximal placement of... |
ORPHA:79324 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Lower limb spasticity, Chorea, Progressive cerebellar ataxia, Upper limb spasticity, Myoclonus |
ORPHA:485350 |
Autosomal Dominant Cutis Laxa |
|
Aortic regurgitation, Congestive heart failure, Dilatation of the ventricular cavity, Adducted th... |
ORPHA:90348 |
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Preaxial polydactyly |
ORPHA:2921 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Rocker bottom foot, Coxa valga, Postaxial hand polydactyly, Postaxial foot polydactyly, Abnormal ... |
OMIM:301056 |
Hypomandibular Faciocranial Dysostosis |
|
Death in infancy, Patent ductus arteriosus, Recurrent respiratory infections |
ORPHA:1790 |
Takenouchi-Kosaki Syndrome |
|
Hypospadias, Unilateral renal agenesis, Patent ductus arteriosus, Pulmonic stenosis, Hydronephrosis |
OMIM:616737 |
Epidermal Nevus Syndrome |
|
Progressive spastic paraparesis, Babinski sign, Weakness of long finger extensor muscles, Hyperto... |
ORPHA:35125 |
X-Linked Intellectual Disability, Nascimento Type |
|
Recurrent respiratory infections, Overlapping toe, Mitral stenosis, Patent ductus arteriosus, Clu... |
ORPHA:163956 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Lower limb spasticity, Short stature, Ataxia, Vocal cord paralysis, Growth delay, Hyperkinetic mo... |
OMIM:617799 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Patent ductus arteriosus, Micropenis, Hypospadias |
OMIM:106260 |
Loeys-Dietz Syndrome 1 |
|
Arachnodactyly, Arterial tortuosity, Descending thoracic aorta aneurysm, Patent ductus arteriosus... |
OMIM:609192 |
Kinsship Syndrome |
|
Short stature, Single transverse palmar crease, Spastic tetraparesis, Coxa valga, Hip dislocation... |
OMIM:619297 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5 |
|
Fasciculations |
OMIM:619141 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Congestive heart failure, Pneumothorax, Hip dislocation, Right bundle branch block, Ascending tub... |
OMIM:617403 |
Down Syndrome |
|
Short palm, Sandal gap, Single transverse palmar crease, Patent ductus arteriosus, Pulmonary arte... |
OMIM:190685 |
Congenital Disorder Of Glycosylation, Type Ij |
|
Single transverse palmar crease, Tremor, Hypertonia, Clinodactyly of the 5th finger, Hypoproteinemia |
OMIM:608093 |
Erdheim-Chester Disease |
|
Congestive heart failure, Abnormal pulmonary interstitial morphology, Abnormal epiphysis morpholo... |
ORPHA:35687 |
Ataxia-Telangiectasia |
|
Diabetes mellitus, Short stature, Female hypogonadism, Elevated circulating alpha-fetoprotein con... |
OMIM:208900 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Abnormal lung lobation, Narrow greater sciatic notch, Short palm, Patent ductus arteriosus, Short... |
OMIM:312870 |
Hyperparathyroidism, Transient Neonatal |
|
Unilateral renal agenesis, Patent ductus arteriosus, Ovarian cyst, Stroke, Enlarged kidney |
OMIM:618188 |
D-Bifunctional Protein Deficiency |
|
Split hand, Primary adrenal insufficiency, Renal cyst, Hammertoe, Talipes equinovarus, Increased ... |
OMIM:261515 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
2-5 finger syndactyly, Severe short stature, Hypospadias, Camptodactyly of finger, Unilateral ren... |
ORPHA:468631 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Patent ductus arteriosus, Renal hypoplasia, Renal cyst, Coarctation of aorta, Microphallus, Vesic... |
OMIM:618454 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Ataxia, Abnormality of extrapyramidal motor function, Hyperglycinemia, Myoclonus, Spasticity |
OMIM:614299 |
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia |
|
Fasciculations |
OMIM:608030 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Broad hallux, Postaxial polydactyly, Hypoplastic aortic arch, Hip dysplasia, Clinodactyly of the ... |
ORPHA:457284 |
Mucopolysaccharidosis, Type Ii |
|
Split hand, Recurrent pneumonia, Congestive heart failure |
OMIM:309900 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Flexion contracture of finger, Hypospadias, Unilateral renal agenesis, Tapered finger, Short toe,... |
ORPHA:464311 |
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent |
|
Hypertonia, Myoclonus |
OMIM:617290 |
Japanese Encephalitis |
|
Hyponatremia, Dystonia, Weakness due to upper motor neuron dysfunction, Paralysis, Tremor, Elbow ... |
ORPHA:79139 |
Stuve-Wiedemann Syndrome 1 |
|
Abnormal autonomic nervous system physiology, Opacification of the corneal stroma |
OMIM:601559 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Recurrent respiratory infections, Prominent superficial veins, Single transverse palmar crease, P... |
OMIM:612541 |
Dystonia 26, Myoclonic |
|
Torticollis, Blepharospasm, Myoclonus, Dystonia, Laryngeal dystonia |
OMIM:616398 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Ovarian dermoid cyst, Renal cyst |
ORPHA:480536 |
Kawasaki Disease |
|
Pericarditis, Recurrent pharyngitis, Congestive heart failure, Vasculitis, Myocarditis, Abnormal ... |
ORPHA:2331 |
Phelan-Mcdermid Syndrome |
|
Vesicoureteral reflux, Patent ductus arteriosus, Abnormality of the kidney, Polycystic kidney dys... |
OMIM:606232 |
Sarcoidosis |
|
Renal insufficiency, Hyperthyroidism, Diabetes insipidus, Hypercalcemia, Nephrolithiasis, Hyperca... |
ORPHA:797 |
Marshall-Smith Syndrome |
|
Hallux valgus, Bullet-shaped middle phalanges of the hand, Patent ductus arteriosus, Recurrent up... |
OMIM:602535 |
Greenberg Dysplasia |
|
Micromelia, Abnormal lung lobation, Tetraphocomelia, Hypoplasia of the calcaneus, Neonatal death,... |
OMIM:215140 |
3Mc Syndrome 3 |
|
Short stature, Preaxial polydactyly, Horseshoe kidney, Micropenis, Growth delay, Radioulnar synos... |
OMIM:248340 |
Neu-Laxova Syndrome 1 |
|
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Micromelia, Long fingers, Patent ductus ar... |
OMIM:256520 |
Gaucher Disease, Type Iii |
|
Short stature, Myoclonus, Ataxia, Spastic paraparesis |
OMIM:231000 |
Flna-Related X-Linked Myxomatous Valvular Dysplasia |
|
Aortic regurgitation, Tricuspid regurgitation, Patent ductus arteriosus, Mitral regurgitation, Pu... |
ORPHA:555877 |
Peutz-Jeghers Syndrome |
|
Gastrointestinal hemorrhage, Enlarged polycystic ovaries, Abnormality of the ureter, Renal cell c... |
ORPHA:2869 |
Sturge-Weber Syndrome |
|
Conjunctival telangiectasia, Retinal detachment, Corneal dystrophy, Abnormal retinal vascular mor... |
ORPHA:3205 |
Phace Association |
|
Anomalous branches of internal carotid artery, Patent ductus arteriosus, Arterial stenosis, Coarc... |
OMIM:606519 |
Den Hoed-De Boer-Voisin Syndrome |
|
Lower limb spasticity, Recurrent urinary tract infections, Sandal gap, Ataxia, Tremor, Small hand... |
OMIM:619229 |
Hermansky-Pudlak Syndrome 8 |
|
Hypoplasia of the fovea, Optic disc pallor, Myopic astigmatism, Blue irides, Ocular albinism, Iri... |
OMIM:614077 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Death in infancy, Overlapping fingers, Congestive heart failure, Adducted thumb |
OMIM:608779 |
9Q33.3Q34.11 Microdeletion Syndrome |
|
Abnormality of the kidney, Epistaxis, Patent ductus arteriosus, Telangiectasia, Micropenis |
ORPHA:495818 |
Double Outlet Left Ventricle |
|
Abnormal coronary artery course, Patent ductus arteriosus, Pulmonary artery stenosis, Abnormal ri... |
ORPHA:3427 |
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Neurogenic bladder, Vocal cord paralysis, Myoclonus, Dystonia, Spasticity, Hip subluxation |
ORPHA:500144 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Congestive heart failure, Tachycardia |
ORPHA:90033 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Tricuspid regurgitation, First degree atrioventricular block, Congestive he... |
OMIM:620066 |
Distal Deletion 12Q |
|
Diabetes mellitus, Broad hallux, Single transverse palmar crease, Overlapping toe, Ectopic kidney... |
ORPHA:96149 |
Acquired Idiopathic Sideroblastic Anemia |
|
Congestive heart failure |
ORPHA:75564 |
Femoral-Facial Syndrome |
|
Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Renal agenesis, S... |
OMIM:134780 |
Amyotrophic Lateral Sclerosis 8 |
|
Postural tremor, Abnormal pyramidal sign, Fasciculations |
OMIM:608627 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Postaxial hand polydactyly, Cone-shaped epiphyses of the phalanges of the hand, Genu valgum, Shor... |
OMIM:615630 |
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Chorea, Hyperkinetic movements, Truncal ataxia |
ORPHA:369847 |
Otopalatodigital Syndrome Type 2 |
|
Bowing of the long bones, Hypospadias, Tarsal synostosis, Short hallux, Ureteral obstruction, Elb... |
ORPHA:90652 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Short stature, Babinski sign, Spasticity, Myoclonus, Micropenis, Hydronephrosis |
ORPHA:364028 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Diabetes mellitus, Nephrocalcinosis, Hypernatriuria, Hyperproteinemia, Incr... |
ORPHA:90041 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen... |
OMIM:606002 |
Gerstmann-Straussler Disease |
|
Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myoclonus, Truncal ataxia... |
OMIM:137440 |
Lymphedema-Distichiasis Syndrome |
|
Patent ductus arteriosus, Varicose veins, Chylothorax, Arrhythmia, Tetralogy of Fallot |
OMIM:153400 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Congestive heart failure, Dilated cardiomyopathy, Portal hypertension |
ORPHA:367 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Hypertonia, Short stature, Myoclonus |
ORPHA:289266 |
Miller-Dieker Lissencephaly Syndrome |
|
Single transverse palmar crease, Deep palmar crease, Pelvic kidney, Polydactyly, Camptodactyly, C... |
OMIM:247200 |
Chops Syndrome |
|
Vesicoureteral reflux, Patent ductus arteriosus, Anomalous pulmonary venous return, Horseshoe kidney |
OMIM:616368 |
Dystonia-Aphonia Syndrome |
|
Oromandibular dystonia, Abnormal urinary odor, Generalized dystonia, Myoclonus |
ORPHA:412217 |
Serotonin Syndrome |
|
Clonus, Tremor, Rigidity, Hypertonia, Myoclonus, Acute kidney injury |
ORPHA:43116 |
Heterotaxy, Visceral, 12, Autosomal |
|
Patent ductus arteriosus, Partial anomalous pulmonary venous return, Hypoplastic aortic arch, Dex... |
OMIM:619702 |
Zellweger Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Short stature, Primary adrenal insufficiency, Epiphyse... |
ORPHA:912 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Bowing of the long bones, Short stature, Ataxia, Metaphyseal sclerosis, Postnatal growth retardat... |
OMIM:612199 |
7Q31 Microdeletion Syndrome |
|
Prominent fingertip pads, Recurrent respiratory infections, Patent ductus arteriosus after birth ... |
ORPHA:251061 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Congestive heart failure, Arrhythmia, Dilated cardiomyopathy |
OMIM:609015 |
Incontinentia Pigmenti |
|
Finger syndactyly, Telangiectasia of the skin, Camptodactyly of finger, Abnormal hand morphology,... |
ORPHA:464 |
Subacute Cutaneous Lupus Erythematosus |
|
Psoriasiform lesion |
ORPHA:163525 |
Acrofacial Dysostosis, Cincinnati Type |
|
Patent ductus arteriosus, Acetabular dysplasia, Flared lower limb metaphysis, Femoral bowing |
OMIM:616462 |
Deafness-Craniofacial Syndrome |
|
Patent ductus arteriosus |
ORPHA:3241 |
Noonan Syndrome 9 |
|
Prominent corneal nerve fibers |
OMIM:616559 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Generalized dystonia, Writer's cramp, Tremor, Babinski sign, Torsion dystonia, Bleph... |
OMIM:128100 |
3-Methylglutaconic Aciduria, Type Viii |
|
Death in infancy, Patent ductus arteriosus, 3-Methylglutaric aciduria, 3-Methylglutaconic aciduri... |
OMIM:617248 |
Heterotaxy, Visceral, 1, X-Linked |
|
Renal agenesis, Patent ductus arteriosus, Hypoplastic aortic arch, Double outlet right ventricle,... |
OMIM:306955 |
Oculopalatocerebral Syndrome |
|
Remnants of the hyaloid vascular system, Leukocoria |
OMIM:257910 |
9P13 Microdeletion Syndrome |
|
Short stature, Precocious puberty, Hand tremor, Myoclonus, Clinodactyly of the 5th finger, Dry sk... |
ORPHA:324313 |
Fanconi Anemia, Complementation Group D2 |
|
Duplicated collecting system, Renal agenesis, Ectopic kidney, Patent ductus arteriosus, Horseshoe... |
OMIM:227646 |
Aortic Aneurysm, Familial Thoracic 6 |
|
Iris flocculi |
OMIM:611788 |
Koolen-De Vries Syndrome |
|
Recurrent urinary tract infections, Patent ductus arteriosus, Aortic root aneurysm, Pulmonic sten... |
OMIM:610443 |
Developmental And Epileptic Encephalopathy 89 |
|
Hypertonia, Hyperkinetic movements, Talipes equinovarus, Tetraparesis, Dystonia, Limb undergrowth... |
OMIM:619124 |
Idiopathic Hypereosinophilic Syndrome |
|
Transient ischemic attack, Swelling of proximal interphalangeal joints, Supraventricular arrhythm... |
ORPHA:3260 |
Grfoma |
|
Hypercalcemia, Elevated circulating growth hormone concentration, Neoplasm of the thymus, Abnorma... |
ORPHA:97261 |
Multiple Sulfatase Deficiency |
|
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Optic atrophy, Abnormality of per... |
ORPHA:585 |
Melas |
|
Hypoparathyroidism, Diabetes mellitus, Proteinuria, Short stature, Hypogonadotropic hypogonadism,... |
ORPHA:550 |
Von Hippel-Lindau Disease |
|
Elevated urinary catecholamine level, Myocardial infarction, Pancreatic cysts, Myocarditis, Abnor... |
ORPHA:892 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Hypogonadism, Type II diabete... |
ORPHA:79095 |
Syndromic Diarrhea |
|
Short stature, Renal hypoplasia, Hypoplasia of the thymus, Abnormality of iron homeostasis, Polyc... |
ORPHA:84064 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Babinski sign, Limb tremor, Choreoa... |
OMIM:608643 |
Kaposiform Lymphangiomatosis |
|
Abnormal ischium morphology, Abnormal pelvis bone morphology, Abnormal humerus morphology, Pancre... |
ORPHA:464329 |
Sotos Syndrome |
|
Patent ductus arteriosus, Long metacarpals, Genu valgum, Long phalanx of finger, Large hands |
OMIM:117550 |
Pancreatic insufficiency, combined exocrine |
|
Congestive heart failure |
OMIM:260450 |
Autosomal Recessive Robinow Syndrome |
|
Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplasia, Broad hallux phalanx, Bilat... |
ORPHA:1507 |
Leber Congenital Amaurosis 15 |
|
Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Peripapillary atrophy,... |
OMIM:613843 |
Pontocerebellar Hypoplasia, Type 17 |
|
Patent ductus arteriosus |
OMIM:619909 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Death in infancy, Congestive heart failure |
OMIM:619355 |
Ppoma |
|
Hypercalcemia, Elevated circulating growth hormone concentration, Abnormality of the thyroid glan... |
ORPHA:97278 |
Alveolar Echinococcosis |
|
Abnormal pelvis bone morphology, Ataxia, Pancreatic cysts, Renal cyst, Hemiparesis, Abnormal adre... |
ORPHA:284 |
Orofaciodigital Syndrome Type 5 |
|
Ectopic accessory finger-like appendage, Postaxial hand polydactyly, Postaxial foot polydactyly, ... |
ORPHA:2919 |
Friedreich Ataxia |
|
Abnormal EKG, Hypertrophic cardiomyopathy, Congestive heart failure |
OMIM:229300 |
Jalili Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1873 |
Denys-Drash Syndrome |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ... |
OMIM:194080 |
Townes-Brocks Syndrome 1 |
|
Short metatarsal, Triphalangeal thumb, Vesicoureteral reflux, Hypothyroidism, 2-4 finger syndacty... |
OMIM:107480 |
Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Adrenal calcification, Renal salt wasting, Abnormal urine pot... |
ORPHA:275761 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Hemiplegia/hemiparesis, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, My... |
ORPHA:79279 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Orthostatic hypotension, Optic atrophy, Anisocoria, Abnormal autonomic nervous system physiology,... |
OMIM:231550 |
Epilepsy, Progressive Myoclonic, 10 |
|
Spastic ataxia, Ataxia, Urinary incontinence, Spastic tetraplegia, Progressive cerebellar ataxia,... |
OMIM:616640 |
Cockayne Syndrome |
|
Abnormality of retinal pigmentation, Optic disc pallor, Cataract, Retinal atrophy, Retinal dystro... |
ORPHA:191 |
Alpha-Mannosidosis, Adult Form |
|
Optic disc pallor, Cataract, Corneal opacity |
ORPHA:309288 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Cataract, Band keratopathy |
ORPHA:2959 |
Pierson Syndrome |
|
Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Remnants of the hya... |
OMIM:609049 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Gastrointestinal hemorrhage, Congenital hip dislocation, Arachnodactyly, Protrusio acetabuli, Con... |
OMIM:225400 |
Somatostatinoma |
|
Diabetes mellitus, Hypercalcemia, Elevated circulating growth hormone concentration, Abnormality ... |
ORPHA:97283 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity |
|
Appendicular spasticity, Neurogenic bladder, Myoclonus, Dystonia |
OMIM:617669 |
Dietary Iron Overload Disease |
|
Congestive heart failure, Hepatic periportal necrosis |
ORPHA:139507 |
Ulnar-Mammary Syndrome |
|
Abnormal morphology of the radius, Camptodactyly of finger, Abnormality of the humerus, Postaxial... |
ORPHA:3138 |
Psoriasis 14, Pustular |
|
Erythema, Epidermal acanthosis, Elevated circulating C-reactive protein concentration |
OMIM:614204 |
Adnp Syndrome |
|
Recurrent urinary tract infections, Broad hallux, Single transverse palmar crease, Urinary incont... |
ORPHA:404448 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Cardiac shunt, Right ventricular failure, Pulmonary embolism, Increased pulmonary vascular resist... |
ORPHA:70591 |
Glucagonoma |
|
Diabetes mellitus, Hypercalcemia, Elevated circulating growth hormone concentration, Necrolytic m... |
ORPHA:97280 |
Neurooculorenal Syndrome |
|
Hypoplasia of the bladder, Decreased circulating cortisol level, Ectopic posterior pituitary, Uni... |
OMIM:620305 |
Marburg Hemorrhagic Fever |
|
Renal insufficiency, Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevate... |
ORPHA:99826 |
Prader-Willi Syndrome Due To Translocation |
|
Recurrent respiratory infections, Overlapping toe, Patent ductus arteriosus, Small hand, Short fo... |
ORPHA:177907 |
Ogden Syndrome |
|
Redundant neck skin, Congenital hip dislocation, Redundant skin, Maternal diabetes, Hypertonia, C... |
OMIM:300855 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory tract infection, Left ventricular outflow tract obstruction, Shortened PR interval, H... |
ORPHA:308552 |
Orofaciodigital Syndrome I |
|
Syndactyly, Proteinuria, Short stature, Pancreatic cysts, Short 2nd toe, Ovarian cyst, Polydactyl... |
OMIM:311200 |
Sialuria |
|
Hyperkinetic movements, Long hallux, 2-3 toe syndactyly |
ORPHA:3166 |
Autosomal Dominant Spastic Paraplegia Type 9A |
|
Urinary incontinence, Tremor, Babinski sign, Abnormal pyramidal sign, Urinary urgency, Pollakisur... |
ORPHA:447753 |
Frontometaphyseal Dysplasia 2 |
|
Hip contracture, Short metacarpal, Congenital hip dislocation, Ulnar deviation of the hand, Paten... |
OMIM:617137 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Patent ductus arteriosus, Recurrent pneumonia, Recurrent aspiration pneumonia |
OMIM:300472 |
Townes-Brocks Syndrome |
|
Hypoplasia of penis, Ectopic kidney, Triphalangeal thumb, Clinodactyly of the 5th finger, Vesicou... |
ORPHA:857 |
O'Sullivan-Mcleod Syndrome |
|
Tremor, Fasciculations, Intrinsic hand muscle atrophy, Hand muscle weakness |
ORPHA:99965 |
Bartsocas-Papas Syndrome 1 |
|
Popliteal pterygium, Opacification of the corneal stroma, Pterygium, Corneal ulceration, Axillary... |
OMIM:263650 |
Trisomy 10P |
|
Thumb contracture, Poor motor coordination, Abnormality of the kidney, Abnormality of the hand, S... |
ORPHA:171929 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Fasciculations |
OMIM:616439 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Fasciculations |
OMIM:616437 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Hallux valgus, Congenital hip dislocation, Overlapping toe, Postaxial polydactyly, Tapered finger... |
ORPHA:480880 |
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies |
|
Abnormality of extrapyramidal motor function, Myoclonus |
OMIM:604218 |
Mgat2-Cdg |
|
Patent ductus arteriosus, Reflex asystolic syncope, Arrhythmia, Recurrent upper and lower respira... |
ORPHA:79329 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Cystathioninuria, Patent ductus arteriosus, Homocystinuria, Methylmalonic aciduria |
OMIM:277380 |
Noonan Syndrome 2 |
|
Abnormal coronary artery origin, Patent ductus arteriosus, Coarctation of aorta, Cardiomyopathy, ... |
OMIM:605275 |
Lipoid Proteinosis Of Urbach And Wiethe |
|
Reduced epidermal extracellular matrix protein 1 protein expression |
OMIM:247100 |
Gm1-Gangliosidosis, Type Ii |
|
Limb undergrowth, Patent ductus arteriosus, Coxa valga |
OMIM:230600 |
Autosomal Recessive Polycystic Kidney Disease |
|
Hyponatremia, Recurrent urinary tract infections, Renal insufficiency, Pancreatic cysts, Oliguria... |
ORPHA:731 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Proximal muscle weakness in upper limbs, Flexion contracture of finger, Urinary incontinence, Han... |
ORPHA:466768 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Resting tremor, Hyperthyroidism, Diabetes mellitus, Elevated circulating creatine kinase concentr... |
ORPHA:254892 |
Ellis-Van Creveld Syndrome |
|
Capitate-hamate fusion, Postaxial hand polydactyly, Genu valgum, Postaxial foot polydactyly, Shor... |
OMIM:225500 |
Myhre Syndrome |
|
Overlapping toe, Patent ductus arteriosus, Short toe, 2-3 toe syndactyly, Coarctation of aorta, C... |
OMIM:139210 |
Singleton-Merten Syndrome 1 |
|
Recurrent respiratory infections, Hypoplastic distal radial epiphyses, Coxa valga, Congestive hea... |
OMIM:182250 |
Schinzel-Giedion Syndrome |
|
Streak ovary, Hypospadias, Overlapping toe, Abnormality of the ureter, Nephrolithiasis, Renal cys... |
ORPHA:798 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Peripheral opacification of the cornea, Corneal opacity |
OMIM:259600 |
Juvenile Absence Epilepsy |
|
Myoclonus |
ORPHA:1941 |
Juvenile Sialidosis Type 2 |
|
Lower limb spasticity, Ataxia, Abnormality of the kidney, Dysmetria, Myoclonus, Spasticity |
ORPHA:93399 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Optic nerve dysplasia, Retinal dysplasia, Opacification of the corneal stroma |
OMIM:615287 |
Nipah Virus Disease |
|
Tremor, Myoclonus |
ORPHA:99825 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Opacification of the corneal stroma |
ORPHA:79280 |
Joubert Syndrome 30 |
|
Postaxial hand polydactyly |
OMIM:617622 |
Vater/Vacterl Association |
|
Renal dysplasia, Syndactyly, Hypospadias, Renal agenesis, Ectopic kidney, Absent radius, Short th... |
OMIM:192350 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Cataract, Keratoconjunctivitis, Band keratopathy |
OMIM:269200 |
Hereditary Acrokeratotic Poikiloderma |
|
Opacification of the corneal stroma, Keratoconjunctivitis |
ORPHA:2907 |
Benign Samaritan Congenital Myopathy |
|
Fasciculations |
ORPHA:324581 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Aniridia, Developmental glaucoma, Corneal opacity |
ORPHA:1064 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Brachydactyly, Proportionate shortening of all digits, Tapered finger, Patent ductus arteriosus, ... |
ORPHA:280633 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shortening of the tibia, ... |
OMIM:263520 |
Tetraamelia-Multiple Malformations Syndrome |
|
Septo-optic dysplasia, Cataract, Optic atrophy, Microcornea, Iris coloboma |
ORPHA:3301 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Syndactyly, Hypospadias, Short stature, Spastic tetraparesis, Renal cyst, Hip dysplasia, Clinodac... |
OMIM:616975 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Congestive heart failure, Upper limb asymmetry |
ORPHA:2505 |
Behavioral Variant Of Frontotemporal Dementia |
|
Abnormality of extrapyramidal motor function, Fasciculations, Upper motor neuron dysfunction |
ORPHA:275864 |
Tuberous Sclerosis Complex |
|
Renal insufficiency, Abnormality of the kidney, Chronic kidney disease, Stage 5 chronic kidney di... |
ORPHA:805 |
White Sponge Nevus 2 |
|
Epidermal acanthosis |
OMIM:615785 |
Fish-Eye Disease |
|
Corneal opacity |
ORPHA:79292 |
Alzheimer Disease 3 |
|
Spastic tetraparesis, Babinski sign, Abnormality of extrapyramidal motor function, Myoclonus, Dys... |
OMIM:607822 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
Tremor, Ataxia, Blepharospasm, Myoclonus |
OMIM:607876 |
Bardet-Biedl Syndrome 21 |
|
Postaxial hand polydactyly |
OMIM:617406 |
Orofaciodigital Syndrome Iii |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Short sternum |
OMIM:258850 |
Tuberous Sclerosis 1 |
|
Wolff-Parkinson-White syndrome, Renal cyst, Renal cell carcinoma, Renal angiomyolipoma, Pulmonary... |
OMIM:191100 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response, Clonus, Spasticity, Myoclonus |
OMIM:618201 |
Combined Oxidative Phosphorylation Deficiency 57 |
|
Nephrogenic diabetes insipidus, Myoclonus, Dystonia, Neonatal death, Central diabetes insipidus, ... |
OMIM:620167 |
Desmosterolosis |
|
Metatarsus adductus, Patent ductus arteriosus, Anomalous pulmonary venous return, Micromelia |
ORPHA:35107 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Finger dactylitis, Psoriasiform lesion, Abnormal shoulder morphology, Sacroiliac arthritis, Abnor... |
ORPHA:85436 |
Lathosterolosis |
|
Cataract, Opacification of the corneal stroma |
OMIM:607330 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Recurrent respiratory infections, Tachycardia, Tricuspid regurgitation, Right ventricular failure... |
ORPHA:99125 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hallux valgus, Hypoplastic scapulae, Camptodactyly of finger, Long fingers, Congestive heart fail... |
OMIM:256040 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Congestive heart failure, Patent ductus arteriosus, Small hand, Fibular hypoplasia, Hypoplasia of... |
ORPHA:444077 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Epidermal acanthosis |
OMIM:616069 |
Fryns Syndrome |
|
Ureteral duplication, Renal agenesis, Hypospadias, Single transverse palmar crease, Proximal plac... |
OMIM:229850 |
Sandhoff Disease |
|
Exaggerated startle response, Ataxia, Urinary incontinence, Fasciculations, Spasticity, Upper mot... |
OMIM:268800 |
Hajdu-Cheney Syndrome |
|
Hypospadias, Short stature, Renal cyst, Foot acroosteolysis, Osteolytic defects of the phalanges ... |
OMIM:102500 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Ataxia, Equinus calcaneus, Chorea, 2-3 toe syndactyly, Choreoathetosis, Hyperkinetic movements, B... |
ORPHA:522077 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Angina pectoris, Cardiomyopathy, Low-output congestive heart failure, Renal artery atherosclerosi... |
ORPHA:565612 |
Kufor-Rakeb Syndrome |
|
Eyelid apraxia, Urinary incontinence, Parkinsonism, Oculogyric crisis, Rigidity, Babinski sign, A... |
ORPHA:306674 |
Desmosterolosis |
|
Rhizomelia, Patent ductus arteriosus, Bilateral talipes equinovarus, Total anomalous pulmonary ve... |
OMIM:602398 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
Ataxia, Shortening of all distal phalanges of the fingers, Growth delay, Hip dysplasia, Myoclonus... |
ORPHA:247262 |
Familial Dysautonomia |
|
Orthostatic hypotension, Corneal opacity, Abnormal pupil morphology, Corneal erosion, Optic atrop... |
ORPHA:1764 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Decreased response to growth hormone stimulation test, Premature thelarche, Hypertonia, Micropeni... |
ORPHA:268261 |
Yellow Fever |
|
Renal insufficiency, Anuria, Elevated circulating creatine kinase concentration, Elevated circula... |
ORPHA:99829 |
Mckusick-Kaufman Syndrome |
|
Syndactyly, Hydroureter, Congenital hip dislocation, Mesoaxial hand polydactyly, Postaxial hand p... |
OMIM:236700 |
Bresek Syndrome |
|
Neonatal death, Postaxial hand polydactyly |
ORPHA:85284 |
Penile Agenesis |
|
Urethral atresia, male, Hydroureter, Fetal pyelectasis, Bilateral renal hypoplasia, Abnormality o... |
ORPHA:49 |
Dystonia 2, Torsion, Autosomal Recessive |
|
Tremor, Torticollis, Blepharospasm, Torsion dystonia |
OMIM:224500 |
Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, Patent ductus arteriosus, Hematochezia, Melena, Midclavicular hypopl... |
ORPHA:79076 |
Degcags Syndrome |
|
Bilateral renal hypoplasia, Vocal cord paralysis, Pallor, Syndactyly, Hypospadias, Short thumb, A... |
OMIM:619488 |
Unilateral Ocular Duplication |
|
Microcornea, Abnormal pupil morphology, Iris coloboma |
ORPHA:3374 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Chorea, Cerebral palsy, Arachnodactyly, Myoclonus |
OMIM:617600 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Abnormal thumb morphology, Metatarsus adductus, ... |
ORPHA:500095 |
Fatal Familial Insomnia |
|
Urinary retention, Myoclonus, Ataxia |
OMIM:600072 |
Fryns Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Abnormal aortic arch morphology, Abnormal aortic morph... |
ORPHA:2059 |
Tuberous Sclerosis 2 |
|
Wolff-Parkinson-White syndrome, Absence of renal corticomedullary differentiation, Renal cyst, Re... |
OMIM:613254 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Pulmonary artery stenosis, Postaxial hand polydactyly |
ORPHA:75389 |
Pagod Syndrome |
|
Death in infancy, Multicystic kidney dysplasia, Sudden cardiac death, Renal hypoplasia/aplasia, P... |
ORPHA:991 |
Early Infantile Epileptic Encephalopathy |
|
Episodic ataxia, Dystonia, Precocious puberty, Tremor, Spasticity, Choreoathetosis, Myoclonus, Br... |
ORPHA:1934 |
Rubinstein-Taybi Syndrome 1 |
|
Single transverse palmar crease, Aortic isthmus hypoplasia, Hypoplastic iliac wing, Prominent fin... |
OMIM:180849 |
Lateral Meningocele Syndrome |
|
Patent ductus arteriosus, Neurogenic bladder, Aortic aneurysm |
OMIM:130720 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Medial calcification of large arteries, Congestive heart failure, Recurrent upper respiratory tra... |
ORPHA:391487 |
Atelis Syndrome 2 |
|
Single transverse palmar crease, Patent ductus arteriosus, Supravalvar pulmonary stenosis, Vitreo... |
OMIM:620185 |
Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Neurogenic bladder, Cerebral palsy, Dystonia, Tapered finger, Narrow palm, Congenital hypothyroid... |
OMIM:616973 |
Cornelia De Lange Syndrome |
|
Hypoplasia of penis, Micromelia, Proximal placement of thumb, Hypertonia, Clinodactyly of the 5th... |
ORPHA:199 |
Fanconi Anemia |
|
Finger syndactyly, Hypoplasia of the ulna, Toe syndactyly, Abnormal morphology of ulna, Abnormal ... |
ORPHA:84 |
Lymphatic Malformation 13 |
|
Patent ductus arteriosus, Pulmonary arterial hypertension, Mitral regurgitation, Neonatal death |
OMIM:620244 |
Trichohepatoneurodevelopmental Syndrome |
|
Overlapping toe, Patent ductus arteriosus, Hip dislocation, Short foot, Fibular bowing, Hip dyspl... |
OMIM:618268 |
Axenfeld-Rieger Syndrome, Type 1 |
|
Rieger anomaly, Polycoria, Microcornea, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Megal... |
OMIM:180500 |
White-Sutton Syndrome |
|
Patent ductus arteriosus, Broad thumb, Brachydactyly |
OMIM:616364 |
3Mc Syndrome 1 |
|
Single interphalangeal crease of fifth finger, Patent ductus arteriosus, Short foot, Radioulnar s... |
OMIM:257920 |
Ichthyosis, Congenital, Autosomal Recessive 7 |
|
Palmoplantar keratoderma, Epidermal acanthosis |
OMIM:615022 |
Triosephosphate Isomerase Deficiency |
|
Death in infancy, Congestive heart failure, Death in adolescence |
OMIM:615512 |
Von Hippel-Lindau Syndrome |
|
Pancreatic cysts, Hypertension, Renal cell carcinoma, Multiple renal cysts, Epididymal cyst |
OMIM:193300 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Tricuspid regurgitation, Patent ductus arteriosus, Hypoplastic aortic arch, Coarctation of aorta,... |
OMIM:617506 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Death in infancy, Patent ductus arteriosus, Dilated cardiomyopathy, Concentric hypertrophic cardi... |
OMIM:610505 |
10Q22.3Q23.3 Microdeletion Syndrome |
|
Curved middle phalanx of the 4th toe, Patent ductus arteriosus, Arachnodactyly |
ORPHA:276413 |
Non-Distal Duplication 13Q |
|
Postaxial hand polydactyly, Arachnodactyly |
ORPHA:1702 |
Caribbean Parkinsonism |
|
Dystonia, Weakness due to upper motor neuron dysfunction, Parkinsonism, Rigidity, Bradykinesia, P... |
ORPHA:97355 |
Pontocerebellar Hypoplasia, Type 2E |
|
Short stature, Spastic tetraplegia, Opisthotonus, Hypertonia, Myoclonus, Spasticity |
OMIM:615851 |
Alagille Syndrome 1 |
|
Duplicated collecting system, Hypoplasia of the ulna, Hypertriglyceridemia, Multiple small medull... |
OMIM:118450 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Tricuspid regurgitation, Patent ductus arteriosus, Aortic rupture, Bladder diverticulum, Mitral r... |
OMIM:614557 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Patent ductus arteriosus, Pulmonary arterial hypertension, Micropenis, Hypospadias |
ORPHA:2282 |
Knobloch Syndrome |
|
Vesicoureteral reflux, Patent ductus arteriosus, Bifid ureter |
ORPHA:1571 |
Hardikar Syndrome |
|
Hypoplasia of the bladder, Renal insufficiency, Hydroureter, Recurrent urinary tract infections, ... |
OMIM:301068 |
Simpson-Golabi-Behmel Syndrome |
|
Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Hydroureter... |
ORPHA:373 |
Coffin-Siris Syndrome 4 |
|
Patent ductus arteriosus, Prominent interphalangeal joints, Short phalanx of the 5th toe, Short 5... |
OMIM:614609 |
Diamond-Blackfan Anemia 1 |
|
Tricuspid stenosis, Absent thumb, Hypoplastic ilia, Short thumb, Partial duplication of thumb pha... |
OMIM:105650 |
Childhood Absence Epilepsy |
|
Limb myoclonus, Pallor, Urinary incontinence |
ORPHA:64280 |
Orofaciodigital Syndrome Type 2 |
|
Finger syndactyly, Broad hallux, Short tibia, Adactyly, Broad first metatarsal, Postaxial hand po... |
ORPHA:2751 |
Loeys-Dietz Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Cardiac arrest, Arterial tortuosity, Patent ductus arter... |
ORPHA:60030 |
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse |
|
Palmoplantar blistering, Palmoplantar keratoderma, Epidermal acanthosis, Palmoplantar hyperkeratosis |
OMIM:148700 |
Peho Syndrome |
|
Myoclonus, Tapered finger |
OMIM:260565 |
Keutel Syndrome |
|
Miscarriage, Recurrent bronchitis, Short hallux, Premature fusion of phalangeal epiphyses, Short ... |
OMIM:245150 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Absent radius, Aplasia of the 1st metaca... |
ORPHA:1352 |
Opitz Gbbb Syndrome |
|
Hypospadias, Patent ductus arteriosus, Coarctation of aorta, Aortic root aneurysm, Abnormality of... |
ORPHA:2745 |
Sotos Syndrome |
|
Ureteral duplication, Renal insufficiency, Hip contracture, Hypospadias, Abnormality of the kidne... |
ORPHA:821 |
Cerebrooculonasal Syndrome |
|
Postaxial hand polydactyly, Postaxial polydactyly |
OMIM:605627 |
Atypical Werner Syndrome |
|
Short palm, Prominent superficial veins, Telangiectasia of the skin, Rocker bottom foot, Abnormal... |
ORPHA:79474 |
Toriello-Carey Syndrome |
|
Patent ductus arteriosus, Coarctation of aorta, Cardiomyopathy, Pulmonic stenosis, Clinodactyly, ... |
ORPHA:3338 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Speech apraxia, Polydactyly, Myoclonus |
ORPHA:314655 |
Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Epidermal acanthosis, Patchy palmoplantar hyperkeratosis |
OMIM:133200 |
Congenital Tracheal Stenosis |
|
Abnormality of the kidney, Ascending aorta hypoplasia, Patent ductus arteriosus, Abnormality of t... |
ORPHA:141127 |
8Q24.3 Microdeletion Syndrome |
|
Long toe, Gastrointestinal hemorrhage, Congenital hip dislocation, Short femur, Single transverse... |
ORPHA:508488 |
Thauvin-Robinet-Faivre Syndrome |
|
Renal malrotation, Bowing of the legs, Long hallux, Renal cyst, Large hands, Nephroblastoma, Bifi... |
OMIM:617107 |
7Q11.23 Microduplication Syndrome |
|
Hypospadias, Unilateral renal agenesis, Patent ductus arteriosus, Enuresis, Aortic valve stenosis... |
ORPHA:96121 |
Turnpenny-Fry Syndrome |
|
Aortic regurgitation, Recurrent respiratory infections, Overlapping toe, Tapered finger, Long fin... |
OMIM:618371 |
Ulbright-Hodes Syndrome |
|
Abnormal penis morphology, Short humerus, Short metacarpal, Maternal diabetes, Postnatal growth r... |
ORPHA:3404 |
Choanal Atresia |
|
Recurrent respiratory infections, Polydactyly |
ORPHA:137914 |
Osteopathia Striata With Cranial Sclerosis |
|
Arachnodactyly, Patent ductus arteriosus, Osteopathia striata, Fibular hypoplasia, Talipes equino... |
OMIM:300373 |
Abeta Amyloidosis, Iowa Type |
|
Myoclonus |
ORPHA:324708 |
Microcephaly, Amish Type |
|
Myoclonus, Limb hypertonia |
OMIM:607196 |
Tsh-Secreting Pituitary Adenoma |
|
Tremor, Elevated circulating thyroid-stimulating hormone concentration, Pallor, Male hypogonadism... |
ORPHA:91347 |
Multiple System Atrophy 1, Susceptibility To |
|
Ataxia, Parkinsonism, Urinary incontinence, Tremor, Rigidity, Babinski sign, Urinary urgency, Bra... |
OMIM:146500 |
Rat-Bite Fever |
|
Scaling skin |
ORPHA:31205 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Congestive heart failure |
OMIM:619259 |
Shigellosis |
|
Hyponatremia, Hemolytic-uremic syndrome, Urethritis, Abnormal blood ion concentration, Acute kidn... |
ORPHA:810 |
Aneurysm-Osteoarthritis Syndrome |
|
Aortic regurgitation, Osteoarthritis of the small joints of the hand, Atrial fibrillation, Arachn... |
ORPHA:284984 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hematochezia, Cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure |
OMIM:615895 |
Legius Syndrome |
|
Short stature, Nephrolithiasis, Diaphyseal dysplasia, Male urethral meatus stenosis, Polydactyly,... |
ORPHA:137605 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Ureteral duplication, Pulmonary artery stenosis, Patent ductus arteriosus, Transposition of the g... |
OMIM:600001 |
Listeriosis |
|
Pericarditis, Miscarriage, Pneumonia, Congestive heart failure, Myocarditis, Stroke, Arteritis |
ORPHA:533 |
Jacobsen Syndrome |
|
Broad hallux phalanx, Multicystic kidney dysplasia, Finger syndactyly, Toe syndactyly, Short stat... |
ORPHA:2308 |
Adenylosuccinase Deficiency |
|
Opisthotonus, Growth delay, Gait ataxia, Myoclonus, Hemiplegia, Spasticity |
OMIM:103050 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Patent ductus arteriosus |
ORPHA:52055 |
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Myoclonus, Spasticity, Single transverse palmar crease, Tapered finger |
OMIM:612949 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Hip dysplasia, Talipes equinovarus, Postaxial polydactyly, Aortic aneurysm |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Hip dysplasia, Talipes equinovarus, Postaxial polydactyly, Aortic aneurysm |
ORPHA:352665 |
Tick-Borne Encephalitis |
|
Speech apraxia, Incoordination, Elevated circulating C-reactive protein concentration, Paralysis,... |
ORPHA:297 |
Intellectual Developmental Disorder, Autosomal Dominant 68 |
|
Broad hallux, Patent ductus arteriosus, Narrow palm, 2-3 toe syndactyly, Joint contracture of the... |
OMIM:619934 |
Zimmermann-Laband Syndrome 1 |
|
Aortic arch aneurysm, Patent ductus arteriosus, Long penis, Nephrolithiasis, Cardiomyopathy, Aort... |
OMIM:135500 |
Ctcf-Related Neurodevelopmental Disorder |
|
Broad hallux phalanx, Sandal gap, Single transverse palmar crease, Patent ductus arteriosus, 2-3 ... |
ORPHA:363611 |
Pallister-Hall Syndrome |
|
Adrenal hypoplasia, Ectopic kidney, Gonadotropin deficiency, Micropenis, Mesoaxial polydactyly, R... |
ORPHA:672 |
Secondary Short Bowel Syndrome |
|
Low plasma citrulline, Abnormal blood ion concentration, Central hypothyroidism, Growth delay, Pr... |
ORPHA:95427 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Short metacarpal, Limited elbow movement, Preaxial hand polydactyly, Enlarged metaphyses, Recurre... |
ORPHA:508533 |
Cerebrocostomandibular Syndrome |
|
Short humerus, Congenital hip dislocation, Calcaneal epiphyseal stippling, Ectopic kidney, Postna... |
OMIM:117650 |
Cardiac-Urogenital Syndrome |
|
Tachycardia, Penoscrotal hypospadias, Patent ductus arteriosus, Partial anomalous pulmonary venou... |
OMIM:618280 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Overlapping toe, Long fingers, Patent ductus arteriosus,... |
OMIM:213980 |
Knobloch Syndrome 2 |
|
Recurrent respiratory infections, Patent ductus arteriosus, Abnormal pulmonary interstitial morph... |
OMIM:618458 |
Brody Disease |
|
Fasciculations |
OMIM:601003 |
Ectodermal Dysplasia/Short Stature Syndrome |
|
Palmoplantar keratoderma, Epidermal acanthosis, Short stature |
OMIM:616029 |
Vulvovaginal Gingival Syndrome |
|
Erythema, Epidermal acanthosis |
ORPHA:83453 |
8P11.2 Deletion Syndrome |
|
Patent ductus arteriosus, Hypoplasia of penis |
ORPHA:251066 |
Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Abdominal aortic aneurysm, Arachnodactyly, Arterial tortuosity, Paten... |
OMIM:613795 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Myoclonus |
ORPHA:411986 |
Scalp-Ear-Nipple Syndrome |
|
Finger syndactyly, Congestive heart failure, 3-4 finger cutaneous syndactyly, 2-3 toe syndactyly,... |
OMIM:181270 |
Hyperekplexia 1 |
|
Exaggerated startle response, Hip dislocation, Hypertonia, Myoclonus, Frequent falls |
OMIM:149400 |
Hajdu-Cheney Syndrome |
|
Coarse metaphyseal trabecularization, Brachydactyly, Hypospadias, Bowing of the long bones, Short... |
ORPHA:955 |
Cystic Fibrosis |
|
Clubbing of fingers, Hypercalciuria |
OMIM:219700 |
Apert Syndrome |
|
Syndactyly, Finger syndactyly, Overriding aorta, Limited elbow movement, Preaxial hand polydactyl... |
OMIM:101200 |
Infantile Digital Fibromatosis |
|
Epidermal acanthosis |
ORPHA:199267 |
Punctate Palmoplantar Keratoderma Type 1 |
|
Epidermal acanthosis, Abnormal epidermal morphology, Palmoplantar hyperkeratosis, Renal cell carc... |
ORPHA:79501 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Overlapping toe, Proximal placement of thumb, Tapered finger, Patent ductus arteriosus, Total ano... |
ORPHA:487796 |
Aymé-Gripp Syndrome |
|
Pericarditis, Rocker bottom foot, Tapered finger, Patent ductus arteriosus, Radioulnar synostosis... |
ORPHA:1272 |
Robinow Syndrome |
|
Syndactyly, Multicystic kidney dysplasia, Brachydactyly, Short stature, Decreased serum testoster... |
ORPHA:97360 |
Arboleda-Tham Syndrome |
|
Recurrent respiratory infections, Brachydactyly, Sandal gap, Deviation of the hallux, Short hallu... |
OMIM:616268 |
Helsmoortel-Van Der Aa Syndrome |
|
Recurrent urinary tract infections, Sandal gap, Broad hallux, Short stature, Tapered finger, Decr... |
OMIM:615873 |
Huriez Syndrome |
|
Congenital palmoplantar hyperkeratosis, Epidermal acanthosis, Tapered finger |
OMIM:181600 |
Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Long toe, Long fingers, Patent ductus arteriosus, Talipes equinovarus, Slender finger, Tibial tor... |
OMIM:613355 |
Acromelic Frontonasal Dysostosis |
|
Syndactyly, Dilation of Virchow-Robin spaces, Preaxial polydactyly, Preaxial foot polydactyly, Pa... |
OMIM:603671 |
Fontaine Progeroid Syndrome |
|
Death in infancy, Prominent superficial veins, Syndactyly, Tricuspid regurgitation, Patent ductus... |
OMIM:612289 |
Whipple Disease |
|
Hyponatremia, Ataxia, Abnormal pyramidal sign, Myoclonus, Hypothyroidism |
ORPHA:3452 |
Neonatal Inflammatory Skin And Bowel Disease |
|
Erythema, Scaling skin |
ORPHA:294023 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Lower limb spasticity, Cerebral palsy, Ataxia, Precocious puberty, Preaxial polydactyly |
ORPHA:163681 |
Olmsted Syndrome, X-Linked |
|
Palmoplantar keratoderma, Epidermal acanthosis, Palmoplantar hyperkeratosis |
OMIM:300918 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Aortic regurgitation, Brachydactyly, Mesoaxial foot polydactyly, Overlapping toe, Single transver... |
OMIM:612474 |
Cohen-Gibson Syndrome |
|
Coxa valga, Hypoplastic iliac wing, Long fingers, Patent ductus arteriosus, Flared metaphysis, La... |
OMIM:617561 |
1P36 Deletion Syndrome |
|
Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Camptodactyly of finger, Short statu... |
ORPHA:1606 |
Neurocardiofaciodigital Syndrome |
|
Syndactyly, Patent ductus arteriosus, Tetralogy of Fallot, Polydactyly |
OMIM:619869 |
Immunodeficiency 23 |
|
Membranoproliferative glomerulonephritis, Ataxia, Erythema, Myoclonus, Cortical myoclonus |
OMIM:615816 |
Acrocephalopolydactylous Dysplasia |
|
Postaxial hand polydactyly, Cystic renal dysplasia, Enlarged kidney, Micromelia |
OMIM:200995 |
Choreoacanthocytosis |
|
Resting tremor, Self-mutilation of tongue and lips due to involuntary movements, Poor motor coord... |
ORPHA:2388 |
17Q24.2 Microdeletion Syndrome |
|
Prolonged QT interval, Patent ductus arteriosus after birth at term, Upper limb undergrowth, Pulm... |
ORPHA:529962 |
Feingold Syndrome 1 |
|
Tricuspid stenosis, Short thumb, Short toe, Patent ductus arteriosus, 4-5 toe syndactyly, 2-3 toe... |
OMIM:164280 |
Dysbetalipoproteinemia |
|
Corneal arcus |
ORPHA:412 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Generalized dystonia, Ataxia, Chorea, Erythema, Spastic tetraplegia, Gait ataxia, Myoclonus, Dyst... |
OMIM:618321 |
Specc1L-Related Hypertelorism Syndrome |
|
Finger syndactyly, Patent ductus arteriosus, Short toe, Clinodactyly of the 5th finger, Arrhythmi... |
ORPHA:1519 |
Sarcoidosis, Susceptibility To, 1 |
|
Clubbing, Hypercalciuria |
OMIM:181000 |
C Syndrome |
|
Multicystic kidney dysplasia, Toe syndactyly, Bilateral single transverse palmar creases, Redunda... |
ORPHA:1308 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Renal tubular acidosis, Patent ductus arteriosus |
OMIM:613457 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Patent ductus arteriosus, Contracture of the proximal interphalangeal joint of the 4th finger, Pu... |
OMIM:618223 |
Caroli Disease |
|
Conjugated hyperbilirubinemia, Abnormal circulating alpha-fetoprotein concentration, Polycystic k... |
ORPHA:53035 |
Carney Complex, Type 1 |
|
Congestive heart failure |
OMIM:160980 |
Microphthalmia With Brain And Digit Anomalies |
|
Postaxial foot polydactyly, Finger syndactyly, Proximal placement of thumb |
ORPHA:139471 |
Joubert Syndrome 5 |
|
Ataxia, Impaired renal concentrating ability, Oculomotor apraxia, Stage 5 chronic kidney disease,... |
OMIM:610188 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Nodular pattern on pulmonary HRCT, Finger joint hypermobility, Emphysema, Repeated pneumothoraces... |
OMIM:130050 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Recurrent respiratory infections, Syndactyly, Broad hallux, Pneumonia, Deviation of the hallux, C... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Recurrent respiratory infections, Syndactyly, Broad hallux, Pneumonia, Deviation of the hallux, C... |
ORPHA:353277 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Duplicated collecting system, Death in infancy, Bilateral fetal pyelectasis, Patent ductus arteri... |
OMIM:300868 |
Developmental And Epileptic Encephalopathy 31B |
|
Appendicular spasticity, Involuntary movements, Clonus, Opisthotonus, Myoclonus |
OMIM:620352 |
Orofaciodigital Syndrome Xvi |
|
Postaxial foot polydactyly, Postaxial hand polydactyly |
OMIM:617563 |
Amyotrophy, Monomelic |
|
Fasciculations |
OMIM:602440 |
Wiedemann-Rautenstrauch Syndrome |
|
Decreased response to growth hormone stimulation test, Tremor, Wide penis, Hypertonia, Vesicouret... |
ORPHA:3455 |
Erythrokeratodermia Variabilis Et Progressiva 3 |
|
Erythema, Epidermal acanthosis, Palmoplantar keratoderma |
OMIM:617525 |
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations |
|
Rigidity, Myoclonus |
OMIM:300673 |
Vici Syndrome |
|
Recurrent respiratory infections, Dilated cardiomyopathy, Congestive heart failure, Cardiomyopathy |
OMIM:242840 |
Ulnar-Mammary Syndrome |
|
Deformed radius, Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Aplasia of the 5th ... |
OMIM:181450 |
Orofaciodigital Syndrome Xix |
|
Toe syndactyly, Broad hallux, Type A brachydactyly, Postaxial hand polydactyly, Postaxial foot po... |
OMIM:620107 |
Pgm3-Cdg |
|
Membranoproliferative glomerulonephritis, Ataxia, Short stature, Skin ulcer, Myoclonus, Cortical ... |
ORPHA:443811 |
Sitosterolemia 1 |
|
Corneal arcus |
OMIM:210250 |
Palmoplantar Carcinoma, Multiple Self-Healing |
|
Palmoplantar keratoderma, Epidermal acanthosis, Finger joint hypermobility |
OMIM:615225 |
Developmental And Epileptic Encephalopathy 101 |
|
Myoclonus, Opisthotonus |
OMIM:619814 |
Palmoplantar Keratoderma, Punctate Type Ia |
|
Punctate palmoplantar hyperkeratosis, Epidermal acanthosis |
OMIM:148600 |
Microphthalmia, Syndromic 2 |
|
Broad hallux, Sandal gap, Patent ductus arteriosus, Hypoplastic aortic arch, 2-3 toe cutaneous sy... |
OMIM:300166 |
Attenuated Familial Adenomatous Polyposis |
|
Multiple renal cysts |
ORPHA:220460 |
Coffin-Siris Syndrome |
|
Patent ductus arteriosus, Recurrent upper respiratory tract infections, Short 5th finger, Aspirat... |
ORPHA:1465 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Epidermal acanthosis, Elevated circulating C-reactive protein concentration |
OMIM:612852 |
Hallermann-Streiff Syndrome |
|
Clinodactyly of the 5th finger, Congestive heart failure, Small hand, Short foot |
ORPHA:2108 |
Acrokeratoelastoidosis Of Costa |
|
Epidermal acanthosis, Palmoplantar hyperkeratosis, Palmar hyperhidrosis |
ORPHA:38 |
Infantile Krabbe Disease |
|
Lower limb spasticity, Spastic diplegia, Opisthotonus, Ankle clonus, Shoulder girdle muscle weakn... |
ORPHA:206436 |
X-Linked Intellectual Disability, Snyder Type |
|
Long toe, Arachnodactyly, Hypospadias, Short stature, Ectopic kidney, Involuntary movements, Slen... |
ORPHA:3063 |
H Syndrome |
|
Corneal arcus |
ORPHA:168569 |
Neutral Lipid Storage Myopathy |
|
Hypertriglyceridemia, Short stature, Diabetes mellitus, Hand muscle weakness, Pineal cyst, Should... |
ORPHA:98908 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Short metatarsal, Femoral bowing, Tibial bowing, Short metacarpal, Ra... |
OMIM:304120 |
Orofaciodigital Syndrome Type 14 |
|
Broad hallux, Deviation of the hallux, Postaxial hand polydactyly, Duplication of phalanx of hall... |
ORPHA:434179 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormal lens morphology, Abnormal optic disc morphology, Optic atrophy |
ORPHA:363417 |
Primary Sclerosing Cholangitis |
|
Portal hypertension, Spider hemangioma, Congestive heart failure, Dilated superficial abdominal v... |
ORPHA:171 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Recurrent respiratory infections, Broad hallux, Pneumonia, Cardiac conduction abnormality, Avascu... |
ORPHA:353281 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Pulmonary arterial hypertension, Patent ductus arteriosus, Renal hypoplasia, Portal hypertension |
OMIM:620005 |
Stromme Syndrome |
|
Stillbirth, Bilateral renal hypoplasia, Preaxial polydactyly, Hydronephrosis |
OMIM:243605 |
Lacrimoauriculodentodigital Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, Duplication of thumb phalanx, Absent thumb, Abnorm... |
ORPHA:2363 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Clinodactyly of the 5th finger, Postaxial hand polydactyly, Brachydactyly, Elbow dislocation |
ORPHA:2916 |
Joubert Syndrome 21 |
|
Oculomotor apraxia, Hyperechogenic kidneys, Ataxia, Renal cyst |
OMIM:615636 |
Mosaic Variegated Aneuploidy Syndrome |
|
Multicystic kidney dysplasia, Short stature, Growth delay, Abnormality of the upper limb, Clinoda... |
ORPHA:1052 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Urethrovaginal fistula, Micromelia, Preaxial hand polydactyly, Abnormal pelv... |
ORPHA:93271 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Eyelid apraxia, Ataxia, Urinary incontinence, Parkinsonism, Tremor, Rigidity, Babinski sign, Abno... |
OMIM:234200 |
Cocaine Intoxication |
|
Proteinuria, Glomerulonephritis, Elevated circulating creatine kinase concentration, Involuntary ... |
ORPHA:90068 |
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties |
|
Myoclonus |
OMIM:616158 |
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse |
|
Palmoplantar keratoderma, Epidermal acanthosis |
OMIM:615735 |
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Congenital stationary night blindness, Abnormal optic disc morphology, Decreased corneal thickness |
ORPHA:293967 |
Poliomyelitis |
|
Paraparesis, Hyperkinetic movements, Fasciculations, Paralysis |
ORPHA:2912 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Epiretinal membrane, Phot... |
OMIM:616959 |
Hyperekplexia 3 |
|
Exaggerated startle response, Hypertonia, Myoclonus |
OMIM:614618 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Ataxia, Parkinsonism, Hypertonia, Myoclonus, Apraxia, Oculomotor apraxia |
ORPHA:1020 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Ureteral duplication, Pulmonary artery stenosis, Patent ductus arteriosus, Transposition of the g... |
ORPHA:2255 |
Roberts-Sc Phocomelia Syndrome |
|
Tetraphocomelia, Phocomelia, Wrist flexion contracture, Syndactyly, Hypoplasia of the ulna, Hypos... |
OMIM:268300 |
Dominant Beta-Thalassemia |
|
Bowing of the long bones, High-output congestive heart failure, Dilated cardiomyopathy, Genu valg... |
ORPHA:231226 |
Hyperekplexia 2 |
|
Exaggerated startle response, Hypertonia, Myoclonus |
OMIM:614619 |
Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Epidermal acanthosis, Palmoplantar hyperkeratosis |
OMIM:242300 |
Peters Plus Syndrome |
|
Ureteral duplication, Multicystic kidney dysplasia, Toe syndactyly, Hypospadias, Brachydactyly, M... |
ORPHA:709 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Corneal opacity, Retinal arteriolar tortuosity, Polycoria, Retinal hemorrhage, Developmental cata... |
OMIM:175780 |
Hyperglycinemia, Lactic Acidosis, And Seizures |
|
Growth delay, Myoclonus, Spastic tetraplegia |
OMIM:614462 |
Full Schwannomatosis |
|
Fasciculations, Neoplasm of the anterior pituitary |
ORPHA:93921 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hyponatremia, Ataxia, Hypokalemia, Hypertonia, Myoclonus, Spasticity |
OMIM:618426 |
Viss Syndrome |
|
Tortuous cerebral arteries, Epidural hemorrhage, Emphysema, Long toe, Arachnodactyly, Arterial to... |
OMIM:619472 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Death in infancy, Congestive heart failure |
OMIM:617156 |
1Q41Q42 Microdeletion Syndrome |
|
Abnormality iris morphology |
ORPHA:250999 |
Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Abnormal urinary color, Renal neoplasm, Hematuria, Multiple renal cy... |
ORPHA:538 |
Parkinson Disease 21 |
|
Tremor, Rigidity, Parkinsonism, Bradykinesia |
OMIM:616361 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Scapular winging, Ataxia, Babinski sign, Dysmetria, Gait ataxia, Progressive gait ataxia, Myoclon... |
OMIM:607459 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Exaggerated startle response, Short stature, Involuntary movements, Decreased serum iron, Abnorma... |
ORPHA:438213 |
Noonan Syndrome 1 |
|
Patent ductus arteriosus, Coarctation of aorta, Hypertrophic cardiomyopathy, Chylothorax, Radial ... |
OMIM:163950 |
Ichthyosis, Congenital, Autosomal Recessive 8 |
|
Erythema, Epidermal acanthosis |
OMIM:613943 |
Microphthalmia, Syndromic 3 |
|
Patent ductus arteriosus, Micropenis, Hypospadias |
OMIM:206900 |
Zttk Syndrome |
|
Aortic regurgitation, Polyuria, Unilateral renal agenesis, Patent ductus arteriosus, Horseshoe ki... |
OMIM:617140 |
Distal 22Q11.2 Microduplication Syndrome |
|
Patent ductus arteriosus, Tricuspid regurgitation, Unilateral renal agenesis |
ORPHA:261337 |
Cerebrocostomandibular Syndrome |
|
Clinodactyly of the 5th finger, Intrauterine growth retardation, Multicystic kidney dysplasia, Sh... |
ORPHA:1393 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Spasticity, Ataxia, Myoclonus, Cortical myoclonus |
ORPHA:168491 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Aortic regurgitation, Single transverse palmar crease, Congestive heart failure, Heart murmur, Ge... |
OMIM:619475 |
Chronic Actinic Dermatitis |
|
Epidermal acanthosis |
ORPHA:330064 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Short stature, Ataxia, Postural tremor, Tapered finger, Babinski sign, Lower limb hypertonia, Myo... |
OMIM:301072 |
Meckel Syndrome |
|
Ureteral duplication, Multicystic kidney dysplasia, Bowing of the long bones, Pancreatic cysts, P... |
ORPHA:564 |
Caroli Syndrome |
|
Conjugated hyperbilirubinemia, Hyperbilirubinemia, Abnormality of the kidney, Polycystic kidney d... |
ORPHA:480520 |
Ichthyosis Prematurity Syndrome |
|
Epidermal acanthosis |
OMIM:608649 |
Coffin-Siris Syndrome 1 |
|
Recurrent respiratory infections, Sandal gap, Single transverse palmar crease, Aplasia/Hypoplasia... |
OMIM:135900 |
Cerebrooculonasal Syndrome |
|
Postaxial hand polydactyly |
ORPHA:66625 |
X-Linked Intellectual Disability, Armfield Type |
|
Patent ductus arteriosus, Abnormality of the elbow, Small hand, Short foot, Limited elbow extension |
ORPHA:85276 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Arachnodactyly, Single transverse palmar crease, Epidermal acanthosis, Overlapping toe, Postnatal... |
ORPHA:83617 |
Plaa-Associated Neurodevelopmental Disorder |
|
Hyperextensibility of the finger joints, Single transverse palmar crease, Rocker bottom foot, Lon... |
ORPHA:521426 |
Hypotrichosis And Recurrent Skin Vesicles |
|
Skin vesicle, Epidermal acanthosis |
OMIM:613102 |
Friedreich Ataxia 2 |
|
Abnormal EKG, Hammertoe, Concentric hypertrophic cardiomyopathy, Congestive heart failure |
OMIM:601992 |
Abetalipoproteinemia |
|
Congestive heart failure, Talipes equinovarus |
ORPHA:14 |
Ichthyosis, Congenital, Autosomal Recessive 9 |
|
Palmar hyperlinearity, Epidermal acanthosis |
OMIM:615023 |
Acrocallosal Syndrome |
|
Finger syndactyly, Toe syndactyly, Duplication of thumb phalanx, Tapered finger, Bifid distal pha... |
OMIM:200990 |
Acrokeratosis Verruciformis Of Hopf |
|
Punctate palmoplantar hyperkeratosis, Epidermal acanthosis, Acantholysis |
ORPHA:79151 |
Beta-Thalassemia Major |
|
Bowing of the long bones, High-output congestive heart failure, Dilated cardiomyopathy, Genu valg... |
ORPHA:231214 |
Proteus Syndrome |
|
Hallux valgus, Finger syndactyly, Thymus hyperplasia, Macrodactyly, Metatarsus valgus, Neoplasm o... |
ORPHA:744 |
Postpoliomyelitis Syndrome |
|
Fasciculations |
ORPHA:2942 |
Pseudotrisomy 13 Syndrome |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, 2-3 toe syndactyly, Coarctation of aorta |
OMIM:264480 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Urethral stricture, Hypospadias, Urinary incontinence, Renal agenesis, Patent ductus arteriosus, ... |
OMIM:619522 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Noncompaction cardiomyopathy, Camptodactyly of finger, Metatarsus adductus, Patent ductus arterio... |
OMIM:607872 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Short fourth metatarsal, Short fifth metatarsal, Single transverse palmar crease, Epistaxis, Tape... |
OMIM:619841 |
Developmental And Epileptic Encephalopathy 49 |
|
Exaggerated startle response, Facial-lingual fasciculations, Spastic tetraplegia, Myoclonus, Spas... |
OMIM:617281 |
Charge Syndrome |
|
Aortic arch aneurysm, Patent ductus arteriosus, Horseshoe kidney, Interrupted aortic arch, Vesico... |
ORPHA:138 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Decreased serum testosterone concentration, Slurred speech, Hypospadias, Renal cyst |
ORPHA:495875 |
Hydrolethalus |
|
Postaxial hand polydactyly, Micromelia |
ORPHA:2189 |
Sandhoff Disease, Infantile Form |
|
Exaggerated startle response, Myoclonus, Spasticity |
ORPHA:309155 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
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Ataxia, Aciduria, Paralysis, Hypertonia, 3-Methylglutaconic aciduria, Ethylmalonic aciduria, Myoc... |
OMIM:203700 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
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Recurrent respiratory infections, Camptodactyly of finger, Patent ductus arteriosus, Clinodactyly... |
ORPHA:3047 |
Developmental And Epileptic Encephalopathy 2 |
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Short foot, Small hand, Myoclonus, Tapered finger |
OMIM:300672 |
Noonan Syndrome 3 |
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Patent ductus arteriosus, Hypertrophic cardiomyopathy, Pulmonic stenosis |
OMIM:609942 |
Ramos-Arroyo Syndrome |
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Patent ductus arteriosus |
ORPHA:1051 |
Okamoto Syndrome |
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Redundant neck skin, Urinary incontinence, Unilateral renal hypoplasia, Severe postnatal growth r... |
ORPHA:2729 |
Retinoblastoma |
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Vitritis, Leukocoria, Retinal calcification, Vitreous hemorrhage, Retinoblastoma |
OMIM:180200 |
Treacher-Collins Syndrome |
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Patent ductus arteriosus, Hypoplasia of penis |
ORPHA:861 |
Cog8-Cdg |
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Ataxia, Myoclonus |
ORPHA:95428 |
Olmsted Syndrome 2 |
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Palmoplantar keratoderma, Epidermal acanthosis, Palmoplantar hyperkeratosis |
OMIM:619208 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
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Tremor, Ataxia, Myoclonus |
ORPHA:98794 |
Osteopetrosis, Autosomal Recessive 7 |
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Growth delay, Femur fracture, Hypocalcemic seizures |
OMIM:612301 |
Norrie Disease |
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Retinal detachment, Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ecto... |
ORPHA:649 |
Microphthalmia, Syndromic 6 |
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Finger syndactyly, Thumb contracture, Toe syndactyly, Female hypogonadism, Single transverse palm... |
OMIM:607932 |
Proboscis Lateralis |
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Ureteral agenesis, Duplication of renal pelvis, Patent ductus arteriosus, Unilateral renal agenesis |
ORPHA:141099 |
Beta-Thalassemia Intermedia |
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High-output congestive heart failure, Pulmonary arterial hypertension |
ORPHA:231222 |
Oculodentodigital Dysplasia |
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Microcornea, Cataract, Optic atrophy, Abnormality iris morphology |
ORPHA:2710 |
Branchiooculofacial Syndrome |
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Renal agenesis, Hypospadias, Single transverse palmar crease, Proximal placement of thumb, Postna... |
OMIM:113620 |
Doors Syndrome |
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Increased urine alpha-ketoglutarate concentration, Adrenal hyperplasia, Aplasia/Hypoplasia of the... |
ORPHA:79500 |
Tetrasomy 9P |
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Renal dysplasia, Recurrent urinary tract infections, Hypoplastic scapulae, Small hand, Horseshoe ... |
ORPHA:3310 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
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Clinodactyly of the 5th finger, Patent ductus arteriosus, Overlapping toe, Cerebral hemorrhage |
OMIM:616682 |
Angelman Syndrome |
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Precocious puberty in females, Ataxia, Tremor, Myoclonus, Delayed menarche |
ORPHA:72 |
Basal Cell Nevus Syndrome 1 |
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Down-sloping shoulders, Palmar pits, Irregular ossification of hand bones, Polydactyly, Short dis... |
OMIM:109400 |
Peters-Plus Syndrome |
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Syndactyly, Short metacarpal, Rhizomelia, Single transverse palmar crease, Limited elbow movement... |
OMIM:261540 |
Developmental And Epileptic Encephalopathy 100 |
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Single transverse palmar crease, Bilateral camptodactyly, Chorea, Elbow flexion contracture, Smal... |
OMIM:619777 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
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Pituitary dwarfism, Ectopic posterior pituitary, Ectopic anterior pituitary gland, Decreased resp... |
ORPHA:95494 |
Spinocerebellar Ataxia Type 7 |
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Congestive heart failure |
ORPHA:94147 |
Lacrimoauriculodentodigital Syndrome 1 |
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Hypoplasia of the ulna, Renal agenesis, Broad hallux, Absent radius, Coronal hypospadias, Short t... |
OMIM:149730 |
Beckwith-Wiedemann Syndrome |
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Nephrolithiasis, Renal cortical cysts, Nephrocalcinosis, Cardiomyopathy, Vesicoureteral reflux, N... |
OMIM:130650 |
Odontoonychodermal Dysplasia |
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Epidermal acanthosis, Erythema, Palmoplantar hyperkeratosis, Palmoplantar hyperhidrosis, Palmopla... |
OMIM:257980 |
African Trypanosomiasis |
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Renal insufficiency, Abnormal central motor function, Urinary incontinence, Involuntary movements... |
ORPHA:3385 |
Monosomy 9Q22.3 |
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Palmar pits, Nephroblastoma, Polydactyly |
ORPHA:77301 |
Niemann-Pick Disease Type C |
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Axial dystonia, Lower limb spasticity, Speech apraxia, Dystonia, Ataxia, Tremor, Chorea, Abnormal... |
ORPHA:646 |
Seborrhea-Like Dermatitis With Psoriasiform Elements |
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Epidermal acanthosis |
OMIM:610227 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
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Patent ductus arteriosus, Coarctation of aorta, Tapered finger |
OMIM:619480 |
Genitopatellar Syndrome |
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Hip contracture, Multicystic kidney dysplasia, Congenital hip dislocation, Hypothyroidism, Patell... |
OMIM:606170 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
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Hallux valgus, Abnormal cardiac ventricular function, Tricuspid regurgitation, Patent ductus arte... |
ORPHA:466791 |
Autosomal Dominant Optic Atrophy And Cataract |
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Anterior subcapsular cataract, Cataract, Posterior cortical cataract, Cerulean cataract, Anterior... |
ORPHA:67036 |
Crimean-Congo Hemorrhagic Fever |
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Proteinuria, Elevated circulating creatine kinase concentration, Hematuria, Adrenal insufficiency... |
ORPHA:99827 |
Orofaciodigital Syndrome Xiv |
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Patent ductus arteriosus, Broad hallux, Preaxial polydactyly, Postaxial hand polydactyly |
OMIM:615948 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Urinary incontinence, Calcaneovalgus deformity, Vesicoureteral reflux, Webbed penis, Micropenis, ... |
ORPHA:261537 |
Orofaciodigital Syndrome Type 4 |
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Recurrent respiratory infections, Finger syndactyly, Camptodactyly of finger, Micromelia, Preaxia... |
ORPHA:2753 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
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Hallux valgus, Patent ductus arteriosus, Left ventricular noncompaction cardiomyopathy, Synostosi... |
OMIM:300967 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
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Dry skin, Epidermal acanthosis |
OMIM:607626 |
Hydrolethalus Syndrome 1 |
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Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication of phalanx of hallux, Abnormal... |
OMIM:236680 |
Mowat-Wilson Syndrome |
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Urinary incontinence, Calcaneovalgus deformity, Vesicoureteral reflux, Webbed penis, Micropenis, ... |
ORPHA:2152 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Unilateral lung agenesis, Transient ischemic attack, Arachnodactyly, Absent thumb, Patent ductus ... |
ORPHA:500150 |
Pallister-Killian Syndrome |
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Congenital hip dislocation, Single transverse palmar crease, Camptodactyly of 2nd-5th fingers, Sh... |
OMIM:601803 |
Pmm2-Cdg |
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Proteinuria, Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentration, At... |
ORPHA:79318 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
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Vesicoureteral reflux, Renal cortical cysts |
OMIM:618548 |
Pontocerebellar Hypoplasia Type 7 |
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Involuntary movements, Spasticity, Hypertonia, Microphallus, Absent penis, Myoclonus, Fasciculati... |
ORPHA:284339 |
Trisomy 18 |
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Camptodactyly of finger, Postaxial hand polydactyly, Deviation of finger, Narrow pelvis bone, Abn... |
ORPHA:3380 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
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Torticollis, Ataxia, Spastic tetraplegia, Growth delay, Myoclonus, Spastic paraparesis, Spasticity |
OMIM:609136 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Urinary incontinence, Calcaneovalgus deformity, Vesicoureteral reflux, Webbed penis, Micropenis, ... |
ORPHA:261552 |
Holoprosencephaly 13, X-Linked |
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Patent ductus arteriosus, Double outlet right ventricle |
OMIM:301043 |
Craniofacial Microsomia 1 |
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Multicystic kidney dysplasia, Renal agenesis, Ectopic kidney, Patent ductus arteriosus, Coarctati... |
OMIM:164210 |
Focal Dermal Hypoplasia |
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Short metacarpal, Toe syndactyly, Congenital hip dislocation, Postaxial hand polydactyly, Osteopa... |
OMIM:305600 |
Ramon Syndrome |
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Optic disc pallor, Pigmentary retinopathy, Axenfeld anomaly |
OMIM:266270 |
Generalized Arterial Calcification Of Infancy |
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Hyperphosphaturia, Adrenal calcification, Stippled calcification of the shoulder, Nephrocalcinosi... |
ORPHA:51608 |
Schinzel-Giedion Midface Retraction Syndrome |
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Increased density of long bones, Single transverse palmar crease, Wide distal femoral metaphysis,... |
OMIM:269150 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
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Myoclonus, Gait ataxia |
ORPHA:70595 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
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Tetraplegia, Myoclonus, Unconjugated hyperbilirubinemia, Dystonia |
OMIM:618278 |
Mowat-Wilson Syndrome |
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Hypospadias, Pulmonary artery sling, Abnormality of the kidney, Pulmonary artery stenosis, Patent... |
OMIM:235730 |
Fraser Syndrome |
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Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Toe syndactyly... |
ORPHA:2052 |
Early-Onset Lafora Body Disease |
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Ataxia, Myoclonus, Spastic tetraparesis |
ORPHA:324290 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
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Optic nerve hypoplasia, Facial palsy, Abnormal optic disc morphology, Retinal coloboma, Iris colo... |
ORPHA:508498 |
Paternal Uniparental Disomy Of Chromosome 6 |
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Patent ductus arteriosus |
ORPHA:96191 |
Nmda Receptor Encephalitis |
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Involuntary movements, Oculogyric crisis, Neoplasm of the thymus, Rigidity, Chorea, Opisthotonus,... |
ORPHA:217253 |
Distal Deletion 3P |
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Clinodactyly of the 5th finger, Postaxial hand polydactyly |
ORPHA:1620 |
Faciocardiomelic Syndrome |
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Slender long bone, Polydactyly, Hypoplastic pelvis |
OMIM:612731 |
Mullegama-Klein-Martinez Syndrome |
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Clinodactyly of the 5th finger, Polydactyly, Coarctation of aorta |
OMIM:301022 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
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Postaxial hand polydactyly, Abnormal lung lobation |
ORPHA:2166 |
Unilateral Polymicrogyria |
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Involuntary movements, Spastic tetraplegia, Hemiparesis, Poor fine motor coordination, Pseudobulb... |
ORPHA:268943 |
Carney Complex |
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Hypertension, Dilatation of the cerebral artery, Stroke, Congestive heart failure |
ORPHA:1359 |
Opsoclonus-Myoclonus Syndrome |
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Rigidity, Limb myoclonus, Ataxia, Myoclonus |
ORPHA:1183 |
Monosomy 9P |
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Abnormality of the tarsal bones, Postaxial hand polydactyly, Proximal placement of thumb, Bilater... |
ORPHA:261112 |
Lafora Disease |
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Spasticity, Ataxia, Myoclonus, Erratic myoclonus |
ORPHA:501 |
Myoclonic Epilepsy Of Lafora |
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Myoclonus, Apraxia |
OMIM:254780 |
Alström Syndrome |
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Portal hypertension, Congestive heart failure, Short toe, Recurrent upper respiratory tract infec... |
ORPHA:64 |
Holoprosencephaly 9 |
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Postaxial hand polydactyly |
OMIM:610829 |