SE-ATLAS

Rubinstein-Taybi syndrome due to CREBBP mutations Nail-patella syndrome Alagille syndrome due to a JAG1 point mutation Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 Tay-Sachs disease Alpha-thalassemia Beta-thalassemia major Pfeiffer syndrome Waardenburg syndrome Muckle-Wells syndrome Beta-thalassemia Rubinstein-Taybi syndrome due to 16p13.3 microdeletion Rubinstein-Taybi syndrome due to EP300 haploinsufficiency Alagille syndrome due to a NOTCH2 point mutation Ehlers-Danlos syndrome type 7B Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 OBSELETE:Tay-Sachs disease, B1 variant Beta-thalassemia intermedia Ehlers-Danlos syndrome type 7A Jackson-Weiss syndrome Dominant beta-thalassemia Muir-Torre syndrome Prader-Willi syndrome due to paternal 15q11q13 deletion Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 Hemoglobin H disease Fabry disease Alagille syndrome Prader-Willi syndrome due to imprinting mutation Beckwith-Wiedemann syndrome due to 11p15 microduplication Prader-Willi syndrome due to translocation Prader-Willi syndrome Beckwith-Wiedemann syndrome due to NSD1 mutation Hb Bart's hydrops fetalis Familial Mediterranean fever Kallmann syndrome Crouzon syndrome Beckwith-Wiedemann syndrome due to CDKN1C mutation Osteogenesis imperfecta type 1 Von Hippel-Lindau disease Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 WAGR syndrome Frasier syndrome Waardenburg syndrome type 1 Waardenburg syndrome type 2 Waardenburg syndrome type 3 Muenke syndrome Beckwith-Wiedemann syndrome due to 11p15 microdeletion Osteogenesis imperfecta type 2 Osteogenesis imperfecta type 3 Denys-Drash syndrome Fanconi anemia MAGEL2-related Prader-Willi-like syndrome Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion Wilson disease Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency Wiskott-Aldrich syndrome Silver-Russell syndrome due to 7p11.2p13 microduplication Apert syndrome CINCA syndrome Fragiles X-Syndrom Nebennierenhyperplasie, kongenitale lipoide, durch STAR-Mangel, klassische Form Nebennierenhyperplasie, kongenitale, durch 3-beta-Hydroxysteroid-Dehydrogenase-Mangel Nebennierenhyperplasie, kongenitale lipoide, durch STAR-Mangel Noonan-Syndrom mit multiplen Lentigines Nebennierenhyperplasie, kongenitale, durch 17-alpha-Hydroxylase-Mangel Osteogenesis imperfecta Typ 4 Silver-Russell-Syndrom durch Imprintingdefekt von 11p15 Nebennierenhyperplasie, kongenitale, durch 11-beta-Hydroxylase-Mangel Nebennierenhyperplasie, kongenitale, durch 21-Hydroxylase-Mangel, klassische Form Rett-Syndrom Sichelzellanämie Silver-Russell-Syndrom durch Mikroduplikation 11p15 Osteogenesis imperfecta Typ 5 Rubinstein-Taybi-Syndrom Noonan-Syndrom Pfeiffer-Syndrom Typ 2 Pfeiffer-Syndrom Typ 1 Nebennierenhyperplasie, kongenitale lipoide, durch STAR-Mangel, nicht-klassische Form Silver-Russell-Syndrom durch maternale uniparentale Disomie von Chromosom 11 Glukokortikoid-Resistenz, generalisierte Pfeiffer-Syndrom Typ 3 Nebennierenhyperplasie, kongenitale, durch 21-Hydroxylase-Mangel, klassische Form, einfach virilisierend Nebennierenhyperplasie, kongenitale, durch 21-Hydroxylase-Mangel, klassische Form mit Salzverlust Beckwith-Wiedemann-Syndrom Tay-Sachs-Krankheit, B-Variante, infantile Form Osteogenesis imperfecta Tuberöse Sklerose Komplex Ehlers-Danlos-Syndrom, Arthrochalasie-Typ Huntington-Krankheit Tay-Sachs-Krankheit, B-Variante, juvenile Form Silver-Russell-Syndrom Tay-Sachs-Krankheit, B-Variante, adulte Form CHARGE-Syndrom Silver-Russell-Syndrom durch Punktmutation MELAS Achondrogenesie Typ 2 Peutz-Jeghers-Syndrom Alagille-Syndrom durch Mikrodeletion 20p12 Hyperandrogenismus durch Cortison-Reduktase-Mangel Prader-Willi-Syndrom durch maternale uniparentale Disomie 15 Achondrogenesie Typ 1B Nebennierenhyperplasie, kongenitale Adrenogenitales Syndrom MIRAGE-Syndrom