Rare Disease Library

Williams syndrome

Deletion 7q11.23 · Monosomy 7q11.23

10q22.3q23.3 microdeletion syndrome

Del(10)(q22.3q23.3) · Deletion 10q22.3q23.3

12q14 microdeletion syndrome

Del(12)(q14) · Deletion 12q14

1p35.2 microdeletion syndrome

Deletion 1p35.2 · Del(1)(p35.2)

1p36 deletion syndrome

Del(1)(p36) · Deletion 1p36

22q11.2 deletion syndrome

22q11DS · CATCH 22

2q37 microdeletion syndrome

Albright hereditary osteodystrophy type 3 · Albright hereditary osteodystrophy-like syndrome

3q29 microdeletion syndrome

3q subtelomere deletion syndrome · 3qter deletion

8p11.2 deletion syndrome

Del(8)(p11.2) · Monosomy 8p11.2

8q21.11 microdeletion syndrome

Del(8)(q21.11) · Deletion 8q21.11

8q24.3 microdeletion syndrome

Del(8)(q24.3) · Deletion 8q24.3

Distal 7q11.23 microdeletion syndrome

Distal del(7)(q11.23) · Distal monosomy 7q11.23

Distal deletion 10q syndrome

Distal monosomy 10q · Monosomy 10qter

Distal deletion 13q syndrome

Distal monosomy 13q · 13q32 deletion

Distal monosomy 7q36 syndrome

Distal deletion 7q36 · Monosomy 7qter

Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion

Desanto-Shinawi syndrome due to 10p11.21p12.31 microdeletion · 10p12p11 microdeletion syndrome

Monosomy 13q14 syndrome

Del(13)(q14) · Deletion 13q14

Monosomy 18q syndrome

18q- syndrome · Deletion 18q

Monosomy 22 syndrome

Del(22) · Deletion 22

Monosomy 5p syndrome

Cri du chat syndrome · Deletion 5p

OBSOLETE: Deletion 20p

OBSOLETE: Monosomy 20p

Phelan-McDermid syndrome due to 22q13.3 deletion

22q13.3 deletion · Chromosome 22q13.3 deletion syndrome

Potocki-Shaffer syndrome

11p11.2 deletion · Proximal 11p deletion syndrome

WAGR syndrome

Del(11)(p13) · Deletion 11p13

ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome due to 10p15.3 microdeletion

10p15.3 microdeletion syndrome · Del(10)(p15.3)