Rare Disease Library

6q25.2q25.3 microdeletion syndrome

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

11q22.2q22.3 microdeletion syndrome

Monosomy 11q22.2q22.3 · Del(11)(q22.2q22.3)

14q24.1q24.3 microdeletion syndrome

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

16q24.3 microdeletion syndrome

Del(16)(q24.3) · Monosomy 16q24.3

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

3q27.3 microdeletion syndrome

Del(3)(q27.3)

3q29 microdeletion syndrome

3q subtelomere deletion syndrome · 3qter deletion

5q14.3 microdeletion syndrome

Del(5)(q14.3) · Monosomy 5q14.3

6q16 microdeletion syndrome

Del(6)(q16) · Monosomy 6q16

8q24.3 microdeletion syndrome

Del(8)(q24.3) · Deletion 8q24.3

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)