Browse by Disease

10q22.3q23 microdeletion syndrome

Other names: Del(10)(q22.3q23.3); Deletion 10q22.3q23.3; Monosomy 10q22.3q23.3

11-beta-hydroxylase deficiency

Other names: Adrenal hyperplasia 4; Adrenal hyperplasia IV; Adrenal hyperplasia hypertensive form; CAH due to 11-beta-hydroxylase deficiency; CYP11B1 deficiency; Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency; P450c11b1 deficiency; Steroid 11-beta-hydroxylase deficiency

12q14 microdeletion syndrome

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

15q11.2 microdeletion

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

15q13.3 microdeletion syndrome

Other names: 15q13.3 microdeletion; Chromosome 15q13.3 deletion syndrome; Chromosome 15q13.3 microdeletion syndrome; Microdeletion 15q13.3 syndrome

15q13.3 microduplication syndrome

15q24 microdeletion syndrome

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

16p11.2 deletion syndrome

Other names: Chromosome 16p11.2 deletion syndrome; Del(16)(p11.2); Microdeletion 16p11.2; Monosomy 16p11.2

16p11.2 duplication

Other names: 16p11.2 duplication syndrome; 16p11.2 microduplication; AUTS14B; Susceptibility to Autism, 14B

16p13.11 microduplication syndrome

Other names: Dup(16)(p13.11); Trisomy 16p13.11