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 Syndrome de Rett Drépanocytose Syndrome de Silver-Russell dû à une microduplication 11p15 Ostéogenèse imparfaite type 5 Syndrome de Rubinstein-Taybi Syndrome de Noonan Syndrome de Pfeiffer type 2 Syndrome de Pfeiffer type 1 Hyperplasie congénitale lipoïde non classique des surrénales par déficit en STAR Syndrome de Silver-Russell dû à une disomie uniparentale maternelle du chromosome 11 Syndrome de résistance généralisée aux glucocorticoïdes Syndrome de Pfeiffer type 3 Hyperplasie congénitale des surrénales par déficit en 21-hydroxylase classique virilisante Hyperplasie congénitale des surrénales par déficit en 21-hydroxylase classique avec perte de sel Syndrome de Beckwith-Wiedemann Maladie de Tay-Sachs, forme infantile Ostéogenèse imparfaite Sclérose tubéreuse de Bourneville Syndrome d'Ehlers-Danlos type arthrochalasique Maladie de Huntington Maladie de Tay-Sachs, forme juvénile Syndrome de Silver-Russell Maladie de Tay-Sachs, forme adulte Syndrome CHARGE Syndrome de Silver-Russell dû à une mutation ponctuelle MELAS Achondrogenèse type 2 Syndrome de Peutz-Jeghers Syndrome d'Alagille dû à une microdélétion 20p12 Hyperandrogénie par déficit en cortisone réductase Syndrome de Prader-Willi dû à une disomie uniparentale maternelle du chromosome 15 Achondrogenèse type 1B Hyperplasie congénitale des surrénales Syndrome adrenogenital Syndrome MIRAGE