Rare Disease Library

Kleefstra syndrome due to 9q34 microdeletion

9q subtelomeric deletion syndrome · 9qSTDS

1p36 deletion syndrome

Del(1)(p36) · Deletion 1p36

20p13 microdeletion syndrome

20p subtelomeric deletion syndrome · Del(20)(p13)

3q29 microdeletion syndrome

3q subtelomere deletion syndrome · 3qter deletion

Distal deletion 15q syndrome

Distal monosomy 15q · 15q26 deletion syndrome

Distal deletion 3p syndrome

3p- syndrome · Distal monosomy 3p

Distal deletion 6p syndrome

6p subtelomeric deletion syndrome · 6p25 microdeletion syndrome

Distal deletion 9p syndrome

Distal monosomy 9p · Monosomy 9pter

Kleefstra syndrome

Kleefstra syndrome due to a point mutation

Monosomy 13q34 syndrome

Del(13)(q34) · Distal deletion 13q34

Monosomy 9p syndrome

9p deletion syndrome · 9p- syndrome