Rare Disease Library

DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion

21q22.13q22.2 microdeletion syndrome · Del(21)(q22.13q22.2)

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)

12q15q21 microdeletion syndrome

Del(12)(q15)(q21) · Deletion 12q15q21

14q11.2 microdeletion syndrome

Del(14)(q11.2) · Monosomy 14q11.2

14q22q23 microdeletion syndrome

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

15q11.2 microdeletion syndrome

15q11.2 BP1-BP2 microdeletion syndrome · Del(15)(q11.2)

15q24 microdeletion syndrome

Del(15)(q24) · Monosomy 15q24

17q21.31 microdeletion syndrome

Del(17)(q21.31) · Monosomy 17q21.31

17q23.1q23.2 microdeletion syndrome

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

17q24.2 microdeletion syndrome

Del(17)(q24)

1q21.1 microdeletion syndrome

Del(1)(q21) · Monosomy 1q21.1

21q22.11q22.12 microdeletion syndrome

Del(21)(q22.11q22.12) · Monosomy 21q22.11q22.12

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

2q37 microdeletion syndrome

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

4q21 microdeletion syndrome

Del(4)(q21) · Monosomy 4q21

8q21.11 microdeletion syndrome

Del(8)(q21.11) · Deletion 8q21.11

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

Del(2)(q24) · Monosomy 2q24

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

Monosomy 22 syndrome

Del(22) · Deletion 22

SATB2-associated syndrome due to a chromosomal rearrangement

Del(2)(q33.1) · Monosomy 2q33.1

Xq21 microdeletion syndrome

Ayazi syndrome · Monosomy Xq21