SE-ATLAS

Syndrome de microdélétion 3q13 Syndrome de microdélétion 2p21 sans cystinurie Syndrome de microdélétion 20q13.33 Syndrome de microdélétion 14q24.1q24.3 Syndrome de microdélétion 13q12.3 Syndrome de microdélétion 15q11.2 Syndrome d'hypotonie-épilepsie-encéphalopathie sévère neonatale dû à une microdélétion 5q31.3 Syndrome de microdélétion 2p21 homozygote Syndrome de microdélétion 21q22.11q22.12 Syndrome de Smith-Magenis Syndrome de microdélétion 22q11.2 distale Anomalie chromosomique rare Syndrome de déficience intellectuelle-cardiopathie congénitale-fente palatine dû à une microdélétion 15q14 Syndrome de microdélétion 16p11.2 proximale Syndrome de microdélétion 3p25.3 Syndrome de microdélétion 17p13.1 distale Syndrome de microdélétion 14q22q23 Syndrome de microdélétion 3q26q27 Syndrome de microdélétion 1p21.3 Syndrome de Temple lié à une microdélétion paternelle 14q32.2 Syndrome de délétion 22q11.2 Mégalencéphalie Syndrome de microdélétion 2p15p16.1 Syndrome de microdélétion 2p21 Syndrome de microdélétion 16p11.2p12.2 Syndrome de microdélétion 1q21.1 Syndrome de destruction du cerveau foetal sporadique Syndrome de microdélétion 17q11 Syndrome de microdélétion 16p11.2 distale Syndrome de microdélétion 1p31p32 Dysplasie de la jonction diencéphale-mésencéphale Microdélétion 8q22.1 Syndrome de microdélétion 1q41q42 Syndrome de microdélétion 16p13.11 Syndrome de microdélétion 12p12.1 Syndrome de microdélétion 2q37 Syndrome de microdélétion 11q22.2q22.3 Syndrome de microdélétion 15q13.3 Syndrome de microdélétion 16q24.1 Syndrome de microdélétion 8q21.11 Anomalie rare du développement embryonnaire Syndrome de microdélétion 2q31.1 Cohen syndrome 2q32q33 microdeletion syndrome 17q21.31 microdeletion syndrome 19p13.13 microdeletion syndrome Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion 16q24.3 microdeletion syndrome Rare pervasive developmental disorder SATB2-associated syndrome due to a chromosomal rearrangement Distal 17p13.3 microdeletion syndrome 14q11.2 microdeletion syndrome 2p13.2 microdeletion syndrome 4q21 microdeletion syndrome 5q14.3 microdeletion syndrome 17q12 microdeletion syndrome 1p35.2 microdeletion syndrome 19q13.11 microdeletion syndrome 10q22.3q23.3 microdeletion syndrome Non-syndromic cerebral malformation due to abnormal neuronal migration 1q44 microdeletion syndrome 2q23.1 microdeletion syndrome 20p13 microdeletion syndrome 17q23.1q23.2 microdeletion syndrome 12q15q21.1 microdeletion syndrome Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion 12q14 microdeletion syndrome Fragile X syndrome 6p22 microdeletion syndrome 15q24 microdeletion syndrome 3q29 microdeletion syndrome Non-syndromic cerebral malformation FOXG1 syndrome due to 14q12 microdeletion Encephaloclastic disorder Rett syndrome 6q25 microdeletion syndrome Hemimegalencephaly Isolated congenital microcephaly Contractures-developmental delay-Pierre Robin syndrome 20q11.2 microdeletion syndrome 7q31 microdeletion syndrome Midline cerebral malformation 8p11.2 deletion syndrome 20p12.3 microdeletion syndrome Monosomy 9q22.3 9p13 microdeletion syndrome Distal deletion 6p 8p23.1 microdeletion syndrome Isolated arhinencephaly Paternal 20q13.2q13.3 microdeletion syndrome 19p13.12 microdeletion syndrome 6q16 microdeletion syndrome 2q24 microdeletion syndrome Distal 7q11.23 microdeletion syndrome 3q27.3 microdeletion syndrome 9q31.1q31.3 microdeletion syndrome DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion