Rare Disease Library

Monosomy 13q34 syndrome

Del(13)(q34) · Distal deletion 13q34

12q14 microdeletion syndrome

Del(12)(q14) · Deletion 12q14

13q12.3 microdeletion syndrome

Del(13)(q12.3) · Monosomy 13q12.3

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

17q11 microdeletion syndrome

Del(17)(q11) · Monosomy 17q11

17q12 microdeletion syndrome

Del(17)(q12) · Monosomy 17q12

17q24.2 microdeletion syndrome

Del(17)(q24)

19p13.13 microdeletion syndrome

Del(19)(p13.13) · Monosomy 19p13.13

19q13.11 microdeletion syndrome

Del(19)(q13.11) · Monosomy 19q13.11

1q21.1 microdeletion syndrome

Del(1)(q21) · Monosomy 1q21.1

1q44 microdeletion syndrome

Del(1)(q44) · Monosomy 1q44

2q23.1 microdeletion syndrome

Del(2)(q23.1) · Monosomy 2q23.1

2q31.1 microdeletion syndrome

Del(2)(q31.1) · Monosomy 2q31.1

2q37 microdeletion syndrome

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

3q13 microdeletion syndrome

Del(3)(q13) · Monosomy 3q13

7q31 microdeletion syndrome

Del(7)(q31) · Monosomy 7q31

9q31.1q31.3 microdeletion syndrome

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

9q33.3q34.11 microdeletion syndrome

Monosomy 9q33.3q34.11 · Deletion 9q33.3q34.11

Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion

Del(15)(q14) · Monosomy 15q14

Deletion 5q35 syndrome

Del (5)(q35) · Del (5)(qter)

DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion

21q22.13q22.2 microdeletion syndrome · Del(21)(q22.13q22.2)

FOXG1 syndrome due to 14q12 microdeletion

Del(14)(q12) · Monosomy 14q12

Jacobsen syndrome

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

Mesomelia-synostoses syndrome

8q13 microdeletion syndrome · Del(8)q(13)

Monosomy 13q14 syndrome

Del(13)(q14) · Deletion 13q14

SATB2-associated syndrome due to a chromosomal rearrangement

Del(2)(q33.1) · Monosomy 2q33.1

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

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

WAGR syndrome

Del(11)(p13) · Deletion 11p13