Rare Disease Library

4q25 proximal deletion syndrome

Proximal del(4)(q25) · Proximal monosomy 4q25

3p25.3 microdeletion syndrome

Del(3)p(25.3) · Intellectual disability-epilepsy-stereotypic hand movement syndrome

4q21 microdeletion syndrome

Del(4)(q21) · Monosomy 4q21

6q25.2q25.3 microdeletion syndrome

Del(6)(q25.2q25.3) · Monosomy 6q25.2q25.3

Anophthalmia-hypothalamo-pituitary insufficiency syndrome

14q22 microdeletion syndrome · Al Frayh-Facharzt-Haque syndrome

Distal deletion 4q syndrome

Distal monosomy 4q · Monosomy 4qter

Distal deletion 6p syndrome

6p subtelomeric deletion syndrome · 6p25 microdeletion syndrome

Proximal 16p11.2 microdeletion syndrome

Proximal del(16)(p11.2) · Proximal monosomy 16p11.2

Wolf-Hirschhorn syndrome

4p- syndrome · Distal deletion 4p