Rare Disease Library

Kleefstra syndrome due to 9q34 microdeletion

9q subtelomeric deletion syndrome · 9qSTDS

10p13-p14 deletion syndrome

Del(10)(p13p14) · Deletion 10p13-p14

12q14 microdeletion syndrome

Del(12)(q14) · Deletion 12q14

15q24 microdeletion syndrome

Del(15)(q24) · Monosomy 15q24

16q22 deletion syndrome

17q11 microdeletion syndrome

Del(17)(q11) · Monosomy 17q11

17q12 microdeletion syndrome

Del(17)(q12) · Monosomy 17q12

1p36 deletion syndrome

Del(1)(p36) · Deletion 1p36

1q21.1 microdeletion syndrome

Del(1)(q21) · Monosomy 1q21.1

1q44 microdeletion syndrome

Del(1)(q44) · Monosomy 1q44

20p13 microdeletion syndrome

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

21q deletion syndrome

21q- syndrome · Partial 21q monosomy

22q11.2 deletion syndrome

22q11DS · CATCH 22

2p13.2 microdeletion syndrome

Del(2)(p13.2)

2p21 microdeletion syndrome

2p21 deletion syndrome · Del(2)(p21)

2q13 microdeletion syndrome

del2q13 syndrome

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

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

4q21 microdeletion syndrome

Del(4)(q21) · Monosomy 4q21

4q25 proximal deletion syndrome

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

5q22 microdeletion syndrome

Monosomy 5q22 syndrome · Del(5)(q22) syndrome

6p22 microdeletion syndrome

Del(6)(p22) · Monosomy 6p22

6q terminal deletion syndrome

6q16 microdeletion syndrome

Del(6)(q16) · Monosomy 6q16

7q31 microdeletion syndrome

Del(7)(q31) · Monosomy 7q31

8p11.2 deletion syndrome

Del(8)(p11.2) · Monosomy 8p11.2

9p13 microdeletion syndrome

Del(9)(p13) · Monosomy 9p13

9q21.13 microdeletion syndrome

9q31.1q31.3 microdeletion syndrome

Del(9)(q31.1q31.3) · Monosomy 9q31.1q31.3

9q33.3q34.11 microdeletion syndrome

Monosomy 9q33.3q34.11 · Deletion 9q33.3q34.11

Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16

ATR syndrome linked to chromosome 16 · ATR syndrome, deletion type

Anophthalmia-hypothalamo-pituitary insufficiency syndrome

14q22 microdeletion syndrome · Al Frayh-Facharzt-Haque syndrome

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

Del(15)(q14) · Monosomy 15q14

Contractures-developmental delay-Pierre Robin syndrome

5q23 microdeletion syndrome

Deletion 5q35 syndrome

Del (5)(q35) · Del (5)(qter)

Distal deletion 10p syndrome

Distal monosomy 10p · Monosomy 10pter

Distal deletion 10q syndrome

Distal monosomy 10q · Monosomy 10qter

Distal deletion 12p syndrome

12p13.33 microdeletion syndrome · Del(12)(p13.33)

Distal deletion 12q syndrome

Distal monosomy 12q · Monosomy 12qter

Distal deletion 13q syndrome

Distal monosomy 13q · 13q32 deletion

Distal deletion 14q syndrome

Distal monosomy 14q · Telomeric deletion 14q

Distal deletion 15q syndrome

Distal monosomy 15q · 15q26 deletion syndrome

Distal deletion 17q syndrome

Distal monosomy 17q · Monosomy 17qter