Browse by Disease

10q22.3q23 microdeletion syndrome

12q14 microdeletion syndrome

Other names: Del(12)(q14), Deletion 12q14, Monosomy 12q14, Osteopoikilosis-short stature-intellectual disability syndrome

14q22q23 microdeletion syndrome

Other names: 14q22-q23 microdeletion syndrome, Del(14)(q22q23), Monosomy 14q22-q23, Monosomy 14q22q23

15q11.2 microdeletion syndrome

Other names: 15q11.2 BP1-BP2 microdeletion syndrome, Del(15)(q11.2), Monosomy 15q11.2

15q13.3 microdeletion syndrome

Other names: Del(15)(q13.3), Monosomy 15q13.3

15q13.3 microduplication syndrome

15q24 microdeletion syndrome

Other names: Del(15)(q24), Monosomy 15q24

16p13.3 microduplication syndrome

Other names: Distal duplication 16p, Distal trisomy 16p, Dup(16)(p13.3), Telomeric duplication 16p, Trisomy 16pter

16q24.3 microdeletion syndrome

Other names: Del(16)(q24.3), Monosomy 16q24.3

17p11.2 microduplication syndrome

Other names: Potocki-Lupski syndrome, Trisomy 17p11.2