Rare Disease Library

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

10q22.3q23.3 microdeletion syndrome

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

11q22.2q22.3 microdeletion syndrome

Monosomy 11q22.2q22.3 · Del(11)(q22.2q22.3)

12p12.1 microdeletion syndrome

Del(12)(p12.1) · Monosomy 12p12.1

13q12.3 microdeletion syndrome

Del(13)(q12.3) · Monosomy 13q12.3

14q11.2 microdeletion syndrome

Del(14)(q11.2) · Monosomy 14q11.2

15q11.2 microdeletion syndrome

15q11.2 BP1-BP2 microdeletion syndrome · Del(15)(q11.2)

15q13.3 microdeletion syndrome

Del(15)(q13.3) · Monosomy 15q13.3

16p11.2p12.2 microdeletion syndrome

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

16p13.11 microdeletion syndrome

Del(16)(p13.11) · Monosomy 16p13.11

16q24.3 microdeletion syndrome

Del(16)(q24.3) · Monosomy 16q24.3

17q11 microdeletion syndrome

Del(17)(q11) · Monosomy 17q11

17q12 microdeletion syndrome

Del(17)(q12) · Monosomy 17q12

17q21.31 microdeletion syndrome

Del(17)(q21.31) · Monosomy 17q21.31

19p13.12 microdeletion syndrome

Del(19)(p13.12) · Monosomy 19p13.12

19q13.11 microdeletion syndrome

Del(19)(q13.11) · Monosomy 19q13.11

1p21.3 microdeletion syndrome

Monosomy 1p21.3 · Del(1)(p21.3)

1p35.2 microdeletion syndrome

Deletion 1p35.2 · Del(1)(p35.2)

1p36 deletion syndrome

Del(1)(p36) · Deletion 1p36

1q44 microdeletion syndrome

Del(1)(q44) · Monosomy 1q44

20p12.3 microdeletion syndrome

Del(20)(p12.3) · Monosomy 20p12.3

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

21q22.11q22.12 microdeletion syndrome

Del(21)(q22.11q22.12) · Monosomy 21q22.11q22.12

22q11.2 deletion syndrome

22q11DS · CATCH 22

2p21 microdeletion syndrome

2p21 deletion syndrome · Del(2)(p21)

2q23.1 microdeletion syndrome

Del(2)(q23.1) · Monosomy 2q23.1

2q31.1 microdeletion syndrome

Del(2)(q31.1) · Monosomy 2q31.1

3q13 microdeletion syndrome

Del(3)(q13) · Monosomy 3q13

3q29 microdeletion syndrome

3q subtelomere deletion syndrome · 3qter deletion

7q31 microdeletion syndrome

Del(7)(q31) · Monosomy 7q31

8p11.2 deletion syndrome

Del(8)(p11.2) · Monosomy 8p11.2

8q21.11 microdeletion syndrome

Del(8)(q21.11) · Deletion 8q21.11

9q31.1q31.3 microdeletion syndrome

Del(9)(q31.1q31.3) · Monosomy 9q31.1q31.3

9q33.3q34.11 microdeletion syndrome

Monosomy 9q33.3q34.11 · Deletion 9q33.3q34.11

Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion

Del(2)(q24) · Monosomy 2q24

Distal 16p11.2 microdeletion syndrome

Distal del(16)(p11.2) · Distal monosomy 16p11.2

Distal deletion 10p syndrome

Distal monosomy 10p · Monosomy 10pter

Distal deletion 10q syndrome

Distal monosomy 10q · Monosomy 10qter

DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion

21q22.13q22.2 microdeletion syndrome · Del(21)(q22.13q22.2)

FOXG1 syndrome due to 14q12 microdeletion

Del(14)(q12) · Monosomy 14q12

Hao-Fountain syndrome due to 16p13.2 microdeletion

Del(16)(p13.2) · Monosomy 16p13.2

Miller-Dieker syndrome

Lissencephaly due to 17p13.3 deletion · Monosomy 17p13.3

Proximal 16p11.2 microdeletion syndrome

Proximal del(16)(p11.2) · Proximal monosomy 16p11.2

SATB2-associated syndrome due to a chromosomal rearrangement

Del(2)(q33.1) · Monosomy 2q33.1

Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion

5q31.3 microdeletion syndrome · Del(5)(q31.3)

WAGR syndrome

Del(11)(p13) · Deletion 11p13