Rare Disease Library

Distal deletion 4q syndrome

Distal monosomy 4q · Monosomy 4qter

12q14 microdeletion syndrome

Del(12)(q14) · Deletion 12q14

15q24 microdeletion syndrome

Del(15)(q24) · Monosomy 15q24

16p13.3 microduplication syndrome

Distal duplication 16p · Distal trisomy 16p

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)

20q11.2 microdeletion syndrome

Del(20)(q11.2) · Monosomy 20q11

22q11.2 deletion syndrome

22q11DS · CATCH 22

2p21 microdeletion syndrome

2p21 deletion syndrome · Del(2)(p21)

3p25.3 microdeletion syndrome

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

3q13 microdeletion syndrome

Del(3)(q13) · Monosomy 3q13

3q29 microdeletion syndrome

3q subtelomere deletion syndrome · 3qter deletion

4p16.3 microduplication syndrome

Distal duplication 4p · Distal trisomy 4p

4q21 microdeletion syndrome

Del(4)(q21) · Monosomy 4q21

4q25 proximal deletion syndrome

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

6p22 microdeletion syndrome

Del(6)(p22) · Monosomy 6p22

6q16 microdeletion syndrome

Del(6)(q16) · Monosomy 6q16

7q31 microdeletion syndrome

Del(7)(q31) · Monosomy 7q31

9p13 microdeletion syndrome

Del(9)(p13) · Monosomy 9p13

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

Deletion 5q35 syndrome

Del (5)(q35) · Del (5)(qter)

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

Del(2)(q24) · Monosomy 2q24

Distal 16p11.2 microdeletion syndrome

Distal del(16)(p11.2) · Distal monosomy 16p11.2

Distal 17p13.3 microdeletion syndrome

Distal del(17)(p13.3 ) · Distal monosomy 17p13.3

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

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

Distal deletion 19p syndrome

Telomeric deletion 19p · Distal monosomy 19p13.3

Distal deletion 1q syndrome

Distal monosomy 1q · Monosomy 1qter

Distal deletion 3p syndrome

3p- syndrome · Distal monosomy 3p

Distal deletion 6p syndrome

6p subtelomeric deletion syndrome · 6p25 microdeletion syndrome

Distal deletion 7p syndrome

Distal monosomy 7p · Monosomy 7pter

Distal deletion 9p syndrome

Distal monosomy 9p · Monosomy 9pter

Distal duplication 10q syndrome

Distal trisomy 10q · Telomeric duplication 10q

Distal duplication 11q syndrome

Distal trisomy 11q · Telomeric duplication 11q

Distal duplication 13q syndrome

Distal trisomy 13q · Telomeric duplication 13q