SE-ATLAS

Rubinstein-Taybi-Syndrom durch CREBBP-Genmutation Nagel-Patella-Syndrom Alagille-Syndrom durch JAG1-Gen-Punktmutationen Silver-Russell-Syndrom durch maternale uniparental Disomie des Chromosom 7 Tay-Sachs-Krankheit Alpha-Thalassämie Beta-Thalassämie major Pfeiffer-Syndrom Waardenburg-Syndrom Muckle-Wells-Syndrom Beta-Thalassämie Rubinstein-Taybi-Syndrom durch Mikrodeletion 16p13.3 Rubinstein-Taybi-Syndrom durch EP300-Haploinsuffizienz Alagille-Syndrom durch NOTCH2-Gen-Punktmutationen Ehlers-Danlos-Syndrom Typ 7B Beckwith-Wiedemann-Syndrom durch paternale uniparentale Disomie 11 Tay-Sachs-Krankheit, B1-Variante Beta-Thalassämie intermedia Ehlers-Danlos-Syndrom Typ 7A Jackson-Weiss-Syndrom Beta-Thalassämie, dominante Muir-Torre-Syndrom Prader-Willi-Syndrom durch paternale Deletion 15q11.13 Prader-Willi-Syndrom durch paternale Deletion von 15q11.13, Typ 1 Prader-Willi-Syndrom durch paternale Deletion von 15q11.13, Typ 2 Hämoglobin-H-Krankheit Fabry-Syndrom Alagille-Syndrom Prader-Willi-Syndrom durch Imprinting-Mutation Beckwith-Wiedemann-Syndrom durch Mikroduplikation 11p15 Prader-Willi-Syndrom durch Translokation Prader-Willi-Syndrom Beckwith-Wiedemann-Syndrom durch NSD1-Genmutation Hb-Bart´s Hydrops fetalis-Syndrom Mittelmeerfieber, familiäres Kallmann-Syndrom Crouzon-Syndrom Beckwith-Wiedemann-Syndrom durch CDKN1C-Mangel Osteogenesis imperfecta Typ 1 Von-Hippel-Lindau-Krankheit Beckwith-Wiedemann-Syndrom durch Imprintingdefekt von 11p15 WAGR-Syndrom Frasier-Syndrom Waardenburg-Syndrom Typ 1 Waardenburg-Syndrom Typ 2 Waardenburg-Syndrom Typ 3 Muenke-Syndrom Beckwith-Wiedemann-Syndrom durch Mikrodeletion 11p15 Osteogenesis imperfecta Typ 2 Osteogenesis imperfecta Typ 3 Denys-Drash-Syndrom Fanconi-Anämie MAGEL2-assoziiertes Prader-Willi-ähnliches Syndrom Beckwith-Wiedemann-Syndrom durch 11p15 Translokation/Inversion Wilson-Krankheit Nebennierenhyperplasie, kongenitale, durch Cytochrom-P450-Oxydoreduktase-Mangel Wiskott-Aldrich-Syndrom Silver-Russell-Syndrom durch Mikrodeletion 7p11.2p13 Apert-Syndrom CINCA-Syndrom Fragile X syndrome Classic congenital lipoid adrenal hyperplasia due to STAR deficency Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency Congenital lipoid adrenal hyperplasia due to STAR deficency Noonan syndrome with multiple lentigines Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency Osteogenesis imperfecta type 4 Silver-Russell syndrome due to an imprinting defect of 11p15 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency Rett syndrome Sickle cell anemia Silver-Russell syndrome due to 11p15 microduplication Osteogenesis imperfecta type 5 Rubinstein-Taybi syndrome Noonan syndrome Pfeiffer syndrome type 2 Pfeiffer syndrome type 1 Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 Generalized glucocorticoid resistance syndrome Pfeiffer syndrome type 3 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form Beckwith-Wiedemann syndrome Tay-Sachs disease, infantile form Osteogenesis imperfecta Tuberous sclerosis complex Arthrochalasia Ehlers-Danlos syndrome Huntington disease Tay-Sachs disease, juvenile form Silver-Russell syndrome Tay-Sachs disease, adult form CHARGE syndrome Silver-Russell syndrome due to a point mutation MELAS Achondrogenesis type 2 Peutz-Jeghers syndrome Alagille syndrome due to 20p12 microdeletion Hyperandrogenism due to cortisone reductase deficiency Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 Achondrogenesis type 1B Congenital adrenal hyperplasia Adrenogenital syndrome MIRAGE syndrome