Rare Disease Library

FOXG1 syndrome due to 14q12 microdeletion

Del(14)(q12) · Monosomy 14q12

12p12.1 microdeletion syndrome

Del(12)(p12.1) · Monosomy 12p12.1

12q14 microdeletion syndrome

Del(12)(q14) · Deletion 12q14

12q15q21 microdeletion syndrome

Del(12)(q15)(q21) · Deletion 12q15q21

13q12.3 microdeletion syndrome

Del(13)(q12.3) · Monosomy 13q12.3

14q11.2 microdeletion syndrome

Del(14)(q11.2) · Monosomy 14q11.2

14q22q23 microdeletion syndrome

14q22-q23 microdeletion syndrome · Del(14)(q22q23)

14q24.1q24.3 microdeletion syndrome

Del(14)(q24.1q24.3) · Monosomy 14q24.1q24.3

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

17q11 microdeletion syndrome

Del(17)(q11) · Monosomy 17q11

17q12 microdeletion syndrome

Del(17)(q12) · Monosomy 17q12

17q12 microduplication syndrome

Dup(17)(q12) · Trisomy 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

20q11.2 microdeletion syndrome

Del(20)(q11.2) · Monosomy 20q11

2q23.1 microdeletion syndrome

Del(2)(q23.1) · Monosomy 2q23.1

2q31.1 microdeletion syndrome

Del(2)(q31.1) · Monosomy 2q31.1

3q13 microdeletion syndrome

Del(3)(q13) · Monosomy 3q13

5q14.3 microdeletion syndrome

Del(5)(q14.3) · Monosomy 5q14.3

6q16 microdeletion syndrome

Del(6)(q16) · Monosomy 6q16

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

Del(15)(q14) · Monosomy 15q14

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

Monosomy 13q34 syndrome

Del(13)(q34) · Distal deletion 13q34

SATB2-associated syndrome due to a chromosomal rearrangement

Del(2)(q33.1) · Monosomy 2q33.1