Rare Disease Library

14q11.2 microdeletion syndrome

Del(14)(q11.2) · Monosomy 14q11.2

11q22.2q22.3 microdeletion syndrome

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

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 microduplication syndrome

Dup(14)(q11.2) · Trisomy 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

16p11.2p12.2 microdeletion syndrome

Del(16)(p11.2p12.2) · Monosomy 16p11.2p12.2

17q11 microdeletion syndrome

Del(17)(q11) · Monosomy 17q11

17q11.2 microduplication syndrome

Dup(17)(q11.2) · Grisart-Destrée syndrome

17q12 microdeletion syndrome

Del(17)(q12) · Monosomy 17q12

17q23.1q23.2 microdeletion syndrome

Del(17)(q23.1q23.2) · Monosomy 17q23.1q23.2

19q13.11 microdeletion syndrome

Del(19)(q13.11) · Monosomy 19q13.11

1p35.2 microdeletion syndrome

Deletion 1p35.2 · Del(1)(p35.2)

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

20q11.2 microduplication syndrome

Dup(20)(q11.2)

20q13.33 microdeletion syndrome

Del(20)(q13.33) · Monosomy 20q13.33

2p13.2 microdeletion syndrome

Del(2)(p13.2)

2p21 microdeletion syndrome

2p21 deletion syndrome · Del(2)(p21)

2q23.1 microdeletion syndrome

Del(2)(q23.1) · Monosomy 2q23.1

2q31.1 microdeletion syndrome

Del(2)(q31.1) · Monosomy 2q31.1

2q32q33 deletion syndrome

Monosomy 2q32q33 · Del(2)(q32q33)

2q37 microdeletion syndrome

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

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

8p11.2 deletion syndrome

Del(8)(p11.2) · Monosomy 8p11.2

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

Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion

Del(2)(q24) · Monosomy 2q24

Distal 22q11.2 microdeletion syndrome

Distal del(22)(q11.2) · Distal monosomy 22q11.2

Distal 7q11.23 microdeletion syndrome

Distal del(7)(q11.23) · Distal monosomy 7q11.23

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

Hao-Fountain syndrome due to 16p13.2 microdeletion

Del(16)(p13.2) · Monosomy 16p13.2

Jacobsen syndrome

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

Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion

Maternal del(14)(q32.2) · Maternal monosomy 14q32.2

Monosomy 13q14 syndrome

Del(13)(q14) · Deletion 13q14

SATB2-associated syndrome due to a chromosomal rearrangement

Del(2)(q33.1) · Monosomy 2q33.1

Temple syndrome due to paternal 14q32.2 microdeletion

Paternal del(14)(q32.2)