Rare Disease Library

3p25.3 microdeletion syndrome

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

11q22.2q22.3 microdeletion syndrome

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

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)

2p13.2 microdeletion syndrome

Del(2)(p13.2)

2p21 microdeletion syndrome

2p21 deletion syndrome · Del(2)(p21)

2p25.3 microduplication syndrome

Trisomy 2p25.3 syndrome · Dup(2)(p25.3)

3q13 microdeletion syndrome

Del(3)(q13) · Monosomy 3q13

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

8p11.2 deletion syndrome

Del(8)(p11.2) · Monosomy 8p11.2

8q24.3 microdeletion syndrome

Del(8)(q24.3) · Deletion 8q24.3

Monosomy 22 syndrome

Del(22) · Deletion 22

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

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

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)