Rare Disease Library

3q27.3 microdeletion syndrome

Del(3)(q27.3)

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)

13q12.3 microdeletion syndrome

Del(13)(q12.3) · Monosomy 13q12.3

14q24.1q24.3 microdeletion syndrome

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

15q13.3 microdeletion syndrome

Del(15)(q13.3) · Monosomy 15q13.3

15q24 microdeletion syndrome

Del(15)(q24) · Monosomy 15q24

16q24.1 microdeletion syndrome

Del(16)(q24.1) · Monosomy 16q24.1

16q24.3 microdeletion syndrome

Del(16)(q24.3) · Monosomy 16q24.3

17q21.31 microdeletion syndrome

Del(17)(q21.31) · Monosomy 17q21.31

17q24.2 microdeletion syndrome

Del(17)(q24)

1p21.3 microdeletion syndrome

Monosomy 1p21.3 · Del(1)(p21.3)

1q21.1 microdeletion syndrome

Del(1)(q21) · Monosomy 1q21.1

20p12.3 microdeletion syndrome

Del(20)(p12.3) · Monosomy 20p12.3

2q23.1 microdeletion syndrome

Del(2)(q23.1) · Monosomy 2q23.1

3p25.3 microdeletion syndrome

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

3q13 microdeletion syndrome

Del(3)(q13) · Monosomy 3q13

3q26q27 microdeletion syndrome

Del(3)(q26q27) · Monosomy 3q26q27

3q26q28 deletion syndrome

Del(3)(q26q28) · Monosomy 3q26q28 syndrome

3q29 microdeletion syndrome

3q subtelomere deletion syndrome · 3qter deletion

4q21 microdeletion syndrome

Del(4)(q21) · Monosomy 4q21

5q14.3 microdeletion syndrome

Del(5)(q14.3) · Monosomy 5q14.3

6q25.2q25.3 microdeletion syndrome

Del(6)(q25.2q25.3) · Monosomy 6q25.2q25.3

8q21.11 microdeletion syndrome

Del(8)(q21.11) · Deletion 8q21.11

8q24.3 microdeletion syndrome

Del(8)(q24.3) · Deletion 8q24.3

9q31.1q31.3 microdeletion syndrome

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

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

Del(2)(q24) · Monosomy 2q24

Jacobsen syndrome

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

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

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

Xq21 microdeletion syndrome

Ayazi syndrome · Monosomy Xq21

ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome due to 10p15.3 microdeletion

10p15.3 microdeletion syndrome · Del(10)(p15.3)