Rare Disease Library

Jacobsen syndrome

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

11q22.2q22.3 microdeletion syndrome

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

12q14 microdeletion syndrome

Del(12)(q14) · Deletion 12q14

14q11.2 microdeletion syndrome

Del(14)(q11.2) · Monosomy 14q11.2

15q11.2 microdeletion syndrome

15q11.2 BP1-BP2 microdeletion syndrome · Del(15)(q11.2)

15q24 microdeletion syndrome

Del(15)(q24) · Monosomy 15q24

16p13.11 microdeletion syndrome

Del(16)(p13.11) · Monosomy 16p13.11

17q11 microdeletion syndrome

Del(17)(q11) · Monosomy 17q11

17q12 microdeletion syndrome

Del(17)(q12) · Monosomy 17q12

17q24.2 microdeletion syndrome

Del(17)(q24)

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

8q21.11 microdeletion syndrome

Del(8)(q21.11) · Deletion 8q21.11

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)

FOXG1 syndrome due to 14q12 microdeletion

Del(14)(q12) · Monosomy 14q12

Mesomelia-synostoses syndrome

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

Monosomy 13q14 syndrome

Del(13)(q14) · Deletion 13q14

Monosomy 13q34 syndrome

Del(13)(q34) · Distal deletion 13q34

WAGR syndrome

Del(11)(p13) · Deletion 11p13