Rare Disease Library

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

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

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

16q24.3 microdeletion syndrome

Del(16)(q24.3) · Monosomy 16q24.3

17q21.31 microdeletion syndrome

Del(17)(q21.31) · Monosomy 17q21.31

2q31.1 microdeletion syndrome

Del(2)(q31.1) · Monosomy 2q31.1

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

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

6q25.2q25.3 microdeletion syndrome

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

7q31 microdeletion syndrome

Del(7)(q31) · Monosomy 7q31

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

Deletion 5q35 syndrome

Del (5)(q35) · Del (5)(qter)

Jacobsen syndrome

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

Monosomy 13q34 syndrome

Del(13)(q34) · Distal deletion 13q34