Rare Disease Library

Distal deletion 12p syndrome

12p13.33 microdeletion syndrome · Del(12)(p13.33)

10p13-p14 deletion syndrome

Del(10)(p13p14) · Deletion 10p13-p14

12p12.1 microdeletion syndrome

Del(12)(p12.1) · Monosomy 12p12.1

12q14 microdeletion syndrome

Del(12)(q14) · Deletion 12q14

13q12.3 microdeletion syndrome

Del(13)(q12.3) · Monosomy 13q12.3

15q13.3 microdeletion syndrome

Del(15)(q13.3) · Monosomy 15q13.3

16p13.11 microdeletion syndrome

Del(16)(p13.11) · Monosomy 16p13.11

16p13.3 microduplication syndrome

Distal duplication 16p · Distal trisomy 16p

17p13.3 microduplication syndrome

17p13.3 duplication syndrome · Dup(17)(p13.3)

19p13.12 microdeletion syndrome

Del(19)(p13.12) · Monosomy 19p13.12

19p13.13 microdeletion syndrome

Del(19)(p13.13) · Monosomy 19p13.13

19p13.3 microduplication syndrome

Dup(19)(p13.3)

1p21.3 microdeletion syndrome

Monosomy 1p21.3 · Del(1)(p21.3)

20p12.3 microdeletion syndrome

Del(20)(p12.3) · Monosomy 20p12.3

20p13 microdeletion syndrome

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

20q13.33 microdeletion syndrome

Del(20)(q13.33) · Monosomy 20q13.33

2p13.2 microdeletion syndrome

Del(2)(p13.2)

9p13 microdeletion syndrome

Del(9)(p13) · Monosomy 9p13

Distal 17p13.1 microdeletion syndrome

Distal del(17)(p13.1)

Distal 17p13.3 microdeletion syndrome

Distal del(17)(p13.3 ) · Distal monosomy 17p13.3

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

Hao-Fountain syndrome due to 16p13.2 microdeletion

Del(16)(p13.2) · Monosomy 16p13.2

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)