-
| 511 | Maple syrup urine disease
-
| 32 | Glutathione synthetase deficiency
-
| 171684 | Idiopathic bilateral vestibulopathy
-
| 171690 | Metabolic myopathy due to lactate transporter defect
-
| 26 | Methylmalonic acidemia with homocystinuria
-
| 171863 | Autosomal dominant spastic paraplegia type 42
-
| 171860 | Intellectual disability-cataracts-kyphosis syndrome
-
| 171871 | Renal pseudohypoaldosteronism type 1
-
| 322 | Exstrophy-epispadias complex
-
| 171866 | Spondyloepimetaphyseal dysplasia, aggrecan type
-
| 2368 | Gastroschisis
-
| 2512 | Autosomal recessive primary microcephaly
-
| 171881 | Cap myopathy
-
| 2913 | Non-syndromic polydactyly
-
| 171876 | Generalized pseudohypoaldosteronism type 1
-
| 795 | Rare form of salmonellosis
-
| 171889 | Myopathy with hexagonally cross-linked tubular arrays
-
| 797 | Sarcoidosis
-
| 171886 | Cylindrical spirals myopathy
-
| 171836 | Amelogenesis imperfecta-gingival hyperplasia syndrome
-
| 92 | Juvenile idiopathic arthritis
-
| 171829 | 6q16 deletion syndrome
-
| 171844 | Blindness-scoliosis-arachnodactyly syndrome
-
| 1201 | Atresia of small intestine
-
| 171839 | Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome
-
| 1202 | Larynx atresia
-
| 1199 | Esophageal atresia
-
| 171851 | MEDNIK syndrome
-
| 171848 | Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome
-
| 1304 | Brucellosis
-
| 173 | Cholera
-
| 1428 | Familial chondromalacia patellae
-
| 200037 | Paroxysmal dystonia
-
| 3303 | Tetralogy of Fallot
-
| 200418 | Immunodeficiency with factor I anomaly
-
| 200421 | Immunodeficiency with factor H anomaly
-
| 486 | Autosomal dominant severe congenital neutropenia
-
| 1209 | Tricuspid atresia
-
| 199647 | Isolated encephalocele
-
| 98 | Autosomal recessive spastic ataxia of Charlevoix-Saguenay
-
| 1478 | Interatrial communication
-
| 330 | Congenital factor XII deficiency
-
| 1482 | Gonococcal conjunctivitis
-
| 1959 | Evans syndrome
-
| 284 | Alveolar echinococcosis
-
| 1177 | Early-onset cerebellar ataxia with retained tendon reflexes
-
| 828 | Stickler syndrome
-
| 1431 | Paroxysmal dyskinesia
-
| 293 | Congenital herpes simplex virus infection
-
| 199340 | Muscular dystrophy, Selcen type
-
| 199337 | Pancreatic insufficiency-anemia-hyperostosis syndrome
-
| 234 | Dubin-Johnson syndrome
-
| 3287 | Takayasu arteritis
-
| 199348 | Thiamine-responsive encephalopathy
-
| 199343 | EAST syndrome
-
| 2800 | Extramammary Paget disease
-
| 199326 | Isolated autosomal dominant hypomagnesemia, Glaudemans type
-
| 199323 | Endophthalmitis
-
| 199332 | Endocrine-cerebro-osteodysplasia syndrome
-
| 1928 | Congenital lobar emphysema
-
| 199329 | Congenital myopathy, Paradas type
-
| 2665 | Congenital mesoblastic nephroma
-
| 3463 | Wolfram syndrome
-
| 1549 | Cryptosporidiosis
-
| 199633 | Cerebral malformation
-
| 199642 | Isolated congenital microcephaly
-
| 199639 | Syndrome with corpus callosum agenesis/dysgenesis as a major feature
-
| 549 | Legionellosis
-
| 704 | Pemphigus vulgaris
-
| 199354 | CARASIL
-
| 199351 | Adult-onset dystonia-parkinsonism
-
| 356 | Gerstmann-Straussler-Scheinker syndrome
-
| 466 | Fatal familial insomnia
-
| 199630 | Isolated cerebellar vermis hypoplasia
-
| 199627 | Atypical autism
-
| 199293 | Congenital microgastria
-
| 3452 | Whipple disease
-
| 199282 | Harlequin syndrome
-
| 199285 | Hereditary hypercarotenemia and vitamin A deficiency
-
| 2331 | Kawasaki disease
-
| 199276 | Familial multiple lipomatosis
-
| 2102 | GTP cyclohydrolase I deficiency
-
| 199279 | Familial angiolipomatosis
-
| 199260 | Calcifying aponeurotic fibroma
-
| 3002 | Immune thrombocytopenic purpura
-
| 199267 | Infantile digital fibromatosis
-
| 199315 | Familial clubfoot with or without associated lower limb anomalies
-
| 2040 | Congenital bronchobiliary fistula
-
| 199318 | 15q13.3 microdeletion syndrome
-
| 199310 | Tetragametic chimerism
-
| 2357 | Bronchogenic cyst
-
| 274 | Bernard-Soulier syndrome
-
| 1195 | Congenital atransferrinemia
-
| 926 | Acatalasemia
-
| 3020 | Ramsay Hunt syndrome
-
| 199296 | Congenital isolated ACTH deficiency
-
| 1531 | Craniosynostosis
-
| 199299 | Late-onset isolated ACTH deficiency
-
| 1675 | Dihydropyrimidine dehydrogenase deficiency
-
| 976 | Adenine phosphoribosyltransferase deficiency
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