Rare Disease Library

2p21 microdeletion syndrome

2p21 deletion syndrome · Del(2)(p21)

2p21 microdeletion syndrome without cystinuria

Del(2)(p21) without cystinuria

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)

16p11.2p12.2 microdeletion syndrome

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

1p21.3 microdeletion syndrome

Monosomy 1p21.3 · Del(1)(p21.3)

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

2p13.2 microdeletion syndrome

Del(2)(p13.2)

2p15p16.1 microdeletion syndrome

Del(2)(p15p16.1) · Monosomy 2p15p16.1

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)

2q37 microdeletion syndrome

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

3p25.3 microdeletion syndrome

Del(3)p(25.3) · Intellectual disability-epilepsy-stereotypic hand movement syndrome

6p22 microdeletion syndrome

Del(6)(p22) · Monosomy 6p22

8p11.2 deletion syndrome

Del(8)(p11.2) · Monosomy 8p11.2

8p23.1 microdeletion syndrome

Del(8)(p23.1) · Monosomy 8p23.1

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)

Hao-Fountain syndrome due to 16p13.2 microdeletion

Del(16)(p13.2) · Monosomy 16p13.2

Monosomy 22 syndrome

Del(22) · Deletion 22

SATB2-associated syndrome due to a chromosomal rearrangement

Del(2)(q33.1) · Monosomy 2q33.1

Xp21 deletion syndrome

Del(X)(p21) · Xp21 contiguous gene deletion syndrome

Xp22.3 microdeletion syndrome

Del(X)(p23)