Rare Disease Library

Phelan-McDermid syndrome due to 22q13.3 deletion

22q13.3 deletion · Chromosome 22q13.3 deletion syndrome

10p13-p14 deletion syndrome

Del(10)(p13p14) · Deletion 10p13-p14

10q22.3q23.3 microdeletion syndrome

Del(10)(q22.3q23.3) · Deletion 10q22.3q23.3

11q22.2q22.3 microdeletion syndrome

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

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

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

16p13.11 microdeletion syndrome

Del(16)(p13.11) · Monosomy 16p13.11

16q22 deletion syndrome

16q24.3 microdeletion syndrome

Del(16)(q24.3) · Monosomy 16q24.3

17q11 microdeletion syndrome

Del(17)(q11) · Monosomy 17q11

17q24.2 microdeletion syndrome

Del(17)(q24)

19p13.12 microdeletion syndrome

Del(19)(p13.12) · Monosomy 19p13.12

19p13.13 microdeletion syndrome

Del(19)(p13.13) · Monosomy 19p13.13

19q13.11 microdeletion syndrome

Del(19)(q13.11) · Monosomy 19q13.11

1p21.3 microdeletion syndrome

Monosomy 1p21.3 · Del(1)(p21.3)

1p35.2 microdeletion syndrome

Deletion 1p35.2 · Del(1)(p35.2)

1p36 deletion syndrome

Del(1)(p36) · Deletion 1p36

20p12.3 microdeletion syndrome

Del(20)(p12.3) · Monosomy 20p12.3

20p13 microdeletion syndrome

20p subtelomeric deletion syndrome · Del(20)(p13)

20q11.2 microdeletion syndrome

Del(20)(q11.2) · Monosomy 20q11

20q13.33 microdeletion syndrome

Del(20)(q13.33) · Monosomy 20q13.33

21q deletion syndrome

21q- syndrome · Partial 21q monosomy

22q11.2 deletion syndrome

22q11DS · CATCH 22

22q11.2 duplication syndrome

Dup(22)(q11) · Duplication 22q11.2

2p13.2 microdeletion syndrome

Del(2)(p13.2)

2p21 microdeletion syndrome

2p21 deletion syndrome · Del(2)(p21)

2q13 microdeletion syndrome

del2q13 syndrome

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

3p25.3 microdeletion syndrome

Del(3)p(25.3) · Intellectual disability-epilepsy-stereotypic hand movement syndrome

3q13 microdeletion syndrome

Del(3)(q13) · Monosomy 3q13

3q26q27 microdeletion syndrome

Del(3)(q26q27) · Monosomy 3q26q27

3q26q28 deletion syndrome

Del(3)(q26q28) · Monosomy 3q26q28 syndrome

3q27.3 microdeletion syndrome

Del(3)(q27.3)

3q29 microdeletion syndrome

3q subtelomere deletion syndrome · 3qter deletion

4q25 proximal deletion syndrome

Proximal del(4)(q25) · Proximal monosomy 4q25

5q14.3 microdeletion syndrome

Del(5)(q14.3) · Monosomy 5q14.3

6q terminal deletion syndrome

6q25.2q25.3 microdeletion syndrome

Del(6)(q25.2q25.3) · Monosomy 6q25.2q25.3

8p11.2 deletion syndrome

Del(8)(p11.2) · Monosomy 8p11.2

8q24.3 microdeletion syndrome

Del(8)(q24.3) · Deletion 8q24.3

9p13 microdeletion syndrome

Del(9)(p13) · Monosomy 9p13