Rare Disease Library

20p12.3 microdeletion syndrome

Del(20)(p12.3) · Monosomy 20p12.3

12p12.1 microdeletion syndrome

Del(12)(p12.1) · Monosomy 12p12.1

13q12.3 microdeletion syndrome

Del(13)(q12.3) · Monosomy 13q12.3

16p11.2p12.2 microdeletion syndrome

Del(16)(p11.2p12.2) · Monosomy 16p11.2p12.2

19p13.12 microdeletion syndrome

Del(19)(p13.12) · Monosomy 19p13.12

1p21.3 microdeletion syndrome

Monosomy 1p21.3 · Del(1)(p21.3)

20p13 microdeletion syndrome

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

20q11.2 microdeletion syndrome

Del(20)(q11.2) · Monosomy 20q11

20q13.33 microdeletion syndrome

Del(20)(q13.33) · Monosomy 20q13.33

2p13.2 microdeletion syndrome

Del(2)(p13.2)

2p21 microdeletion syndrome

2p21 deletion syndrome · Del(2)(p21)

3p25.3 microdeletion syndrome

Del(3)p(25.3) · Intellectual disability-epilepsy-stereotypic hand movement syndrome

3q13 microdeletion syndrome

Del(3)(q13) · Monosomy 3q13

3q27.3 microdeletion syndrome

Del(3)(q27.3)

3q29 microdeletion syndrome

3q subtelomere deletion syndrome · 3qter deletion

8p11.2 deletion syndrome

Del(8)(p11.2) · Monosomy 8p11.2

9p13 microdeletion syndrome

Del(9)(p13) · Monosomy 9p13

Distal deletion 12p syndrome

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

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

Paternal 20q13.2q13.3 microdeletion syndrome

Paternal del(20)(q13.2q13.3) · Paternal monosomy 20q13.2q13.3

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)