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 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 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