Rare Disease Library

Mowat-Wilson syndrome due to monosomy 2q22

Hirschsprung disease and intellectual disability due to 2q22 microdeletion · Hirschsprung disease and intellectual disability due to del(2)(q22)

5q22 microdeletion syndrome

Monosomy 5q22 syndrome · Del(5)(q22) syndrome

Alagille syndrome due to 20p12 microdeletion

Alagille syndrome due to del(20)(p12) · Alagille syndrome due to monosomy 20p12

Kleefstra syndrome due to 9q34 microdeletion

9q subtelomeric deletion syndrome · 9qSTDS

Mowat-Wilson syndrome

Hirschsprung disease-intellectual disability syndrome

Mowat-Wilson syndrome due to a ZEB2 point mutation

Hirschsprung disease and intellectual disability due to a ZEB2 point mutation

Okihiro syndrome due to 20q13 microdeletion

Duane-radial ray syndrome due to monosomy 20q13 · Okihiro syndrome due to del(20)(q13)

Wilson-Turner syndrome

WTS · X-linked intellectual disability-gynecomastia-obesity syndrome