Rare Disease Library

Kleefstra syndrome due to 9q34 microdeletion

9q subtelomeric deletion syndrome · 9qSTDS

3q26q28 deletion syndrome

Del(3)(q26q28) · Monosomy 3q26q28 syndrome

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

Angelman syndrome due to maternal 15q11q13 deletion

Angelman syndrome due to maternal monosomy 15q11q13

Autosomal monosomy syndrome

Autosomal deletion

Distal monosomy 7q36 syndrome

Distal deletion 7q36 · Monosomy 7qter

Familial monosomy 7 syndrome

Kleefstra syndrome

Kleefstra syndrome due to a point mutation

Monosomy 13q14 syndrome

Del(13)(q14) · Deletion 13q14

Monosomy 13q34 syndrome

Del(13)(q34) · Distal deletion 13q34

Monosomy 18p syndrome

18p- syndrome · De Grouchy syndrome type 1

Monosomy 18q syndrome

18q- syndrome · Deletion 18q

Monosomy 22 syndrome

Del(22) · Deletion 22

Monosomy 5p syndrome

Cri du chat syndrome · Deletion 5p

Monosomy 9p syndrome

9p deletion syndrome · 9p- syndrome

Monosomy 9q22.3 syndrome

Microdeletion 9q22.3

Monosomy X syndrome

Mosaic monosomy X syndrome

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)

Okihiro syndrome due to 20q13 microdeletion

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

Total autosomal monosomy syndrome