Rare Disease Library

17q23.1q23.2 microdeletion syndrome

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

10q22.3q23.3 microdeletion syndrome

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

14q11.2 microdeletion syndrome

Del(14)(q11.2) · Monosomy 14q11.2

14q22q23 microdeletion syndrome

14q22-q23 microdeletion syndrome · Del(14)(q22q23)

14q24.1q24.3 microdeletion syndrome

Del(14)(q24.1q24.3) · Monosomy 14q24.1q24.3

15q11.2 microdeletion syndrome

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

15q24 microdeletion syndrome

Del(15)(q24) · Monosomy 15q24

16q24.1 microdeletion syndrome

Del(16)(q24.1) · Monosomy 16q24.1

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

17q24.2 microdeletion syndrome

Del(17)(q24)

1p35.2 microdeletion syndrome

Deletion 1p35.2 · Del(1)(p35.2)

1q21.1 microdeletion syndrome

Del(1)(q21) · Monosomy 1q21.1

20q11.2 microdeletion syndrome

Del(20)(q11.2) · Monosomy 20q11

21q22.11q22.12 microdeletion syndrome

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

2q23.1 microdeletion syndrome

Del(2)(q23.1) · Monosomy 2q23.1

2q23.1 microduplication syndrome

Dup(2)(q23.1) · Trisomy 2q23.1

2q31.1 microdeletion syndrome

Del(2)(q31.1) · Monosomy 2q31.1

2q37 microdeletion syndrome

Albright hereditary osteodystrophy type 3 · Albright hereditary osteodystrophy-like syndrome

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)

SATB2-associated syndrome due to a chromosomal rearrangement

Del(2)(q33.1) · Monosomy 2q33.1