Rare Disease Library

21q22.11q22.12 microdeletion syndrome

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

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)

12q14 microdeletion syndrome

Del(12)(q14) · Deletion 12q14

12q15q21 microdeletion syndrome

Del(12)(q15)(q21) · Deletion 12q15q21

17q23.1q23.2 microdeletion syndrome

Del(17)(q23.1q23.2) · Monosomy 17q23.1q23.2

1q21.1 microdeletion syndrome

Del(1)(q21) · Monosomy 1q21.1

2q23.1 microdeletion syndrome

Del(2)(q23.1) · Monosomy 2q23.1

4q21 microdeletion syndrome

Del(4)(q21) · Monosomy 4q21

8q21.11 microdeletion syndrome

Del(8)(q21.11) · Deletion 8q21.11

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

Del(2)(q24) · Monosomy 2q24

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

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

Jacobsen syndrome

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

Xq21 microdeletion syndrome

Ayazi syndrome · Monosomy Xq21