-
| 684 | Paramyotonia congenita of Von Eulenburg
-
| 163931 | Acrodermatitis continua of Hallopeau
-
| 273 | Steinert myotonic dystrophy
-
| 163927 | Pustulosis palmaris et plantaris
-
| 163937 | X-linked intellectual disability, Najm type
-
| 163934 | Atopic keratoconjunctivitis
-
| 163918 | Non-paraneoplastic limbic encephalitis
-
| 163924 | Non-herpetic acute limbic encephalitis
-
| 614 | Thomsen and Becker disease
-
| 163921 | Posttransplant acute limbic encephalitis
-
| 163966 | X-linked dominant chondrodysplasia, Chassaing-Lacombe type
-
| 163971 | X-linked intellectual disability, Cilliers type
-
| 163976 | X-linked intellectual disability, Van Esch type
-
| 163979 | X-linked intellectual disability-craniofacioskeletal syndrome
-
| 163953 | X-linked intellectual disability, Raymond type
-
| 163956 | X-linked intellectual disability, Nascimento type
-
| 163961 | X-linked cerebral-cerebellar-coloboma syndrome
-
| 164004 | Middle ear anomaly
-
| 164726 | Acute myeloid leukemia and myelodysplastic syndromes related to radiation
-
| 324 | Fabry disease
-
| 163982 | X-linked intellectual disability-spastic quadriparesis syndrome
-
| 163985 | Hyperekplexia-epilepsy syndrome
-
| 778 | Rett syndrome
-
| 163988 | Developmental delay-deafness syndrome, Hildebrand type
-
| 164001 | Rare odontal or periodontal disorder
-
| 72 | Angelman syndrome
-
| 165661 | Genetic pancreatic disease
-
| 307 | Juvenile myoclonic epilepsy
-
| 165658 | Genetic gastro-esophageal disease
-
| 165655 | Genetic intestinal disease
-
| 165652 | Rare genetic gastroenterological disease
-
| 1941 | Juvenile absence epilepsy
-
| 892 | Von Hippel-Lindau disease
-
| 164823 | Rare acquired aplastic anemia
-
| 731 | Autosomal recessive polycystic kidney disease
-
| 164736 | Familial advanced sleep-phase syndrome
-
| 138 | CHARGE syndrome
-
| 558 | Marfan syndrome
-
| 803 | Amyotrophic lateral sclerosis
-
| 165805 | Familial mesial temporal lobe epilepsy with febrile seizures
-
| 165711 | Rare abdominal surgical disease
-
| 165707 | Syndromic urogenital tract malformation
-
| 100 | Ataxia-telangiectasia
-
| 165704 | Non-syndromic urogenital tract malformation
-
| 733 | Familial adenomatous polyposis
-
| 399 | Huntington disease
-
| 165955 | Wound myiasis
-
| 501 | Lafora disease
-
| 165958 | Cavitary myiasis
-
| 512 | Metachromatic leukodystrophy
-
| 166011 | Multiple epiphyseal dysplasia, Beighton type
-
| 567 | 22q11.2 deletion syndrome
-
| 166016 | Multiple epiphyseal dysplasia, Lowry type
-
| 232 | Sickle cell anemia
-
| 165994 | Pituitary resistance to thyroid hormone
-
| 166002 | Multiple epiphyseal dysplasia due to collagen 9 anomaly
-
| 534 | Oculocerebrorenal syndrome of Lowe
-
| 165988 | Diazoxide-resistant diffuse hyperinsulinism
-
| 790 | Retinoblastoma
-
| 165991 | Exercise-induced hyperinsulinism
-
| 652 | Multiple endocrine neoplasia type 1
-
| 165985 | Diazoxide-sensitive diffuse hyperinsulinism
-
| 908 | Fragile X syndrome
-
| 3099 | Rheumatic fever
-
| 739 | Prader-Willi syndrome
-
| 47 | X-linked agammaglobulinemia
-
| 580 | Mucopolysaccharidosis type 2
-
| 579 | Mucopolysaccharidosis type 1
-
| 905 | Wilson disease
-
| 163209 | Non-syndromic cerebral malformation due to abnormal neuronal migration
-
| 792 | X-linked retinoschisis
-
| 383 | X-linked mixed deafness with perilymphatic gusher
-
| 163525 | Subacute cutaneous lupus erythematosus
-
| 827 | Stargardt disease
-
| 163582 | Rare bacterial infectious disease
-
| 163531 | Chronic cutaneous lupus erythematosus
-
| 906 | Wiskott-Aldrich syndrome
-
| 904 | Williams syndrome
-
| 280 | Wolf-Hirschhorn syndrome
-
| 162516 | Isolated congenital nasal pyriform aperture stenosis
-
| 15 | Achondroplasia
-
| 96 | Ataxia with vitamin E deficiency
-
| 162526 | Isolated congenital auditory ossicle malformation
-
| 101 | Dentatorubral pallidoluysian atrophy
-
| 783 | Rubinstein-Taybi syndrome
-
| 163649 | Spondyloepiphyseal dysplasia, Nishimura type
-
| 631 | Non-acquired isolated growth hormone deficiency
-
| 163654 | Spondyloepiphyseal dysplasia, Cantu type
-
| 276 | T-B+ severe combined immunodeficiency due to gamma chain deficiency
-
| 481 | Kennedy disease
-
| 664 | Ornithine transcarbamylase deficiency
-
| 163668 | Spondyloepiphyseal dysplasia, MacDermot type
-
| 163673 | Spondyloepiphyseal dysplasia, Byers type
-
| 163662 | Spondyloepiphyseal dysplasia, Reardon type
-
| 394 | Classic homocystinuria
-
| 163665 | Spondyloepiphyseal dysplasia tarda, Kohn type
-
| 508 | Leprechaunism
-
| 163591 | Rare mycosis
-
| 163596 | Hb Bart's hydrops fetalis
-
| 436 | Hypophosphatasia
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