Rare Disease Library

12q15q21 microdeletion syndrome

Del(12)(q15)(q21) · Deletion 12q15q21

12p12.1 microdeletion syndrome

Del(12)(p12.1) · Monosomy 12p12.1

12q14 microdeletion syndrome

Del(12)(q14) · Deletion 12q14

13q12.3 microdeletion syndrome

Del(13)(q12.3) · Monosomy 13q12.3

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)

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

16q24.3 microdeletion syndrome

Del(16)(q24.3) · Monosomy 16q24.3

17q11 microdeletion syndrome

Del(17)(q11) · Monosomy 17q11

17q12 microdeletion syndrome

Del(17)(q12) · Monosomy 17q12

17q21.31 microdeletion syndrome

Del(17)(q21.31) · Monosomy 17q21.31

17q24.2 microdeletion syndrome

Del(17)(q24)

19p13.12 microdeletion syndrome

Del(19)(p13.12) · Monosomy 19p13.12

19q13.11 microdeletion syndrome

Del(19)(q13.11) · Monosomy 19q13.11

1q21.1 microdeletion syndrome

Del(1)(q21) · Monosomy 1q21.1

21q22.11q22.12 microdeletion syndrome

Del(21)(q22.11q22.12) · Monosomy 21q22.11q22.12

2q23.1 microdeletion syndrome

Del(2)(q23.1) · Monosomy 2q23.1

4q21 microdeletion syndrome

Del(4)(q21) · Monosomy 4q21

8q21.11 microdeletion syndrome

Del(8)(q21.11) · Deletion 8q21.11

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

Del(15)(q14) · Monosomy 15q14

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)

Monosomy 13q14 syndrome

Del(13)(q14) · Deletion 13q14

Xq21 microdeletion syndrome

Ayazi syndrome · Monosomy Xq21