Rare Disease Library

20p13 microdeletion syndrome

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

10p13-p14 deletion syndrome

Del(10)(p13p14) · Deletion 10p13-p14

12p12.1 microdeletion syndrome

Del(12)(p12.1) · Monosomy 12p12.1

16p13.11 microdeletion syndrome

Del(16)(p13.11) · Monosomy 16p13.11

19p13.12 microdeletion syndrome

Del(19)(p13.12) · Monosomy 19p13.12

19p13.13 microdeletion syndrome

Del(19)(p13.13) · Monosomy 19p13.13

1p35.2 microdeletion syndrome

Deletion 1p35.2 · Del(1)(p35.2)

20p12.3 microdeletion syndrome

Del(20)(p12.3) · Monosomy 20p12.3

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)

2p15p16.1 microdeletion syndrome

Del(2)(p15p16.1) · Monosomy 2p15p16.1

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

8p11.2 deletion syndrome

Del(8)(p11.2) · Monosomy 8p11.2

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

Distal deletion 12p syndrome

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

Hao-Fountain syndrome due to 16p13.2 microdeletion

Del(16)(p13.2) · Monosomy 16p13.2

Monosomy 22 syndrome

Del(22) · Deletion 22

WAGR syndrome

Del(11)(p13) · Deletion 11p13