Rare Disease Library

21q deletion syndrome

21q- syndrome · Partial 21q monosomy

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)

1p35.2 microdeletion syndrome

Deletion 1p35.2 · Del(1)(p35.2)

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

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

2q32q33 deletion syndrome

Monosomy 2q32q33 · Del(2)(q32q33)

8p11.2 deletion syndrome

Del(8)(p11.2) · Monosomy 8p11.2

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

Del(2)(q24) · Monosomy 2q24

Distal deletion 1q syndrome

Distal monosomy 1q · Monosomy 1qter

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

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

Hao-Fountain syndrome due to 16p13.2 microdeletion

Del(16)(p13.2) · Monosomy 16p13.2

Jacobsen syndrome

Chromosome 11q deletion syndrome · Del(11)(q23.3)

Partial autosomal deletion syndrome

Partial autosomal monosomy

Partial deletion of chromosome 1 syndrome

Partial monosomy of chromosome 1

Partial deletion of chromosome 10 syndrome

Partial monosomy of chromosome 10

Partial deletion of chromosome 11 syndrome

Partial monosomy of chromosome 11

Partial deletion of chromosome 12 syndrome

Partial monosomy of chromosome 12

Partial deletion of chromosome 16 syndrome

Partial monosomy of chromosome 16

Partial deletion of chromosome 17 syndrome

Partial monosomy of chromosome 17

Partial deletion of chromosome 18 syndrome

Partial monosomy of chromosome 18

Partial deletion of chromosome 19 syndrome

Partial monosomy of chromosome 19

Partial deletion of chromosome 2 syndrome

Partial monosomy of chromosome 2

Partial deletion of chromosome 20 syndrome

Partial monosomy of chromosome 20

Partial deletion of chromosome 3 syndrome

Partial monosomy of chromosome 3

Partial deletion of chromosome 4 syndrome

Partial monosomy of chromosome 4

Partial deletion of chromosome 5 syndrome

Partial monosomy of chromosome 5

Partial deletion of chromosome 6 syndrome

Partial monosomy of chromosome 6

Partial deletion of chromosome 7 syndrome

Partial monosomy of chromosome 7

Partial deletion of chromosome 8 syndrome

Partial monosomy of chromosome 8

Partial deletion of chromosome 9 syndrome

Partial monosomy of chromosome 9

Partial deletion of chromosome X syndrome

Partial monosomy of chromosome X

Partial deletion of the long arm of chromosome 1 syndrome

Partial deletion of chromosome 1q · Partial monosomy of chromosome 1q

Partial deletion of the long arm of chromosome 10 syndrome

Partial deletion of chromosome 10q · Partial monosomy of the long arm of chromosome 10

Partial deletion of the long arm of chromosome 11 syndrome

Partial deletion of chromosome 11q · Partial monosomy of chromosome 11q

Partial deletion of the long arm of chromosome 12 syndrome

Partial deletion of chromosome 12q · Partial monosomy of chromosome 12q

Partial deletion of the long arm of chromosome 13 syndrome

Partial deletion of chromosome 13q · Partial monosomy of chromosome 13q

Partial deletion of the long arm of chromosome 14 syndrome

Partial deletion of chromosome 14q · Partial monosomy of chromosome 14q

Partial deletion of the long arm of chromosome 15 syndrome

Partial deletion of chromosome 15q · Partial monosomy of chromosome 15q

Partial deletion of the long arm of chromosome 16 syndrome

Partial deletion of chromosome 16q · Partial monosomy of chromosome 16q

Partial deletion of the long arm of chromosome 17 syndrome

Partial deletion of chromosome 17q · Partial monosomy of chromosome 17q

Partial deletion of the long arm of chromosome 18 syndrome

Partial deletion of chromosome 18q · Partial monosomy of chromosome 18q