SE-ATLAS

Syndrome de microduplication 7p22.1 Syndrome de microdélétion 2p13.2 Syndrome de microdélétion 8q21.11 Syndrome de microdélétion 2q32q33 Syndrome de microdélétion 4q21 Syndrome de microdélétion 5q14.3 Syndrome associé à SATB2 dû à un réarrangement chromosomique Syndrome d'Angelman Syndrome de microduplication 3q29 Syndrome de microdélétion 20p13 Syndrome de microduplication 3q26 Syndrome de microduplication 17p11.2 Syndrome de microduplication 8q12 Syndrome de microdélétion 17q12 6p22 microdeletion syndrome 1q44 microdeletion syndrome 2q23.1 microdeletion syndrome 17q12 microduplication syndrome 12q14 microdeletion syndrome 22q11.2 duplication syndrome Contractures-developmental delay-Pierre Robin syndrome 15q24 microdeletion syndrome 6q25 microdeletion syndrome FOXG1 syndrome due to 14q12 microdeletion Rett syndrome Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion 5q35 microduplication syndrome Syndactyly-nystagmus syndrome due to 2q31.1 microduplication 7q11.23 microduplication syndrome Noonan syndrome 8p11.2 deletion syndrome 7q31 microdeletion syndrome Distal deletion 6p 8p23.1 microdeletion syndrome 9q31.1q31.3 microdeletion syndrome 17p13.3 microduplication syndrome 9p13 microdeletion syndrome 2q23.1 microduplication syndrome 6q16 microdeletion syndrome 2q24 microdeletion syndrome 8p23.1 duplication syndrome 3q13 microdeletion syndrome Mikrodeletionssyndrom 7q11.23, distal Corpus callosum-Agenesie-Makrozephalie-Hypertelorismus-Syndrom Mikrodeletionssyndrom 15q14 Schwere neonatale Hypotonie-Krämpfe-Enzephalopathie-Syndrom durch Mikrodeletion 5q31.3 Mikrodeletionssyndrom 21q22.11q22.12 Fetales Alkoholsyndrom Mikroduplikationssyndrom 22q11.2, distal Anophthalmie mit Hypothalamus-Hypophysen-Insuffizienz Mikroduplikationssyndrom 5p13 Muskeldystrophie Typ Duchenne Mikrodeletionssyndrom 2p21 Mikrodeletionssyndrom 17q11 Mikrodeletionssyndrom 1p21.3 Mikroduplikationssyndrom 1q21.1 Nablus mask-like facial-Syndrom Mikroduplikationssyndrom 20q11.2 Epilepsie mit kontinuierlichen Spike-Wave-Entladungen im Schlaf Mikrodeletionssyndrom 2q37 Mikrodeletionssyndrom 15q13.3 Mikrodeletionssyndrom 2q31.1 Mikroduplikationssyndrom 4p16.3 Mikroduplikationssyndrom 7q11.23, distal