Rare Disease Library

Alagille syndrome due to 20p12 microdeletion

Alagille syndrome due to del(20)(p12) · Alagille syndrome due to monosomy 20p12

20p12.3 microdeletion syndrome

Del(20)(p12.3) · Monosomy 20p12.3

3q26q28 deletion syndrome

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

5q22 microdeletion syndrome

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

Alagille syndrome

Alagille-Watson syndrome · Arteriohepatic dysplasia

Alagille syndrome due to a JAG1 point mutation

Alagille-Watson syndrome due to a JAG1 point mutation · Arteriohepatic dysplasia due to a JAG1 point mutation

Alagille syndrome due to a NOTCH2 point mutation

Alagille-Watson syndrome due to a NOTCH2 point mutation · Arteriohepatic dysplasia due to a NOTCH2 point mutation

Angelman syndrome due to maternal 15q11q13 deletion

Angelman syndrome due to maternal monosomy 15q11q13

Autosomal monosomy syndrome

Autosomal deletion

Distal monosomy 7q36 syndrome

Distal deletion 7q36 · Monosomy 7qter

Familial monosomy 7 syndrome

Kleefstra syndrome due to 9q34 microdeletion

9q subtelomeric deletion syndrome · 9qSTDS

Monosomy 13q14 syndrome

Del(13)(q14) · Deletion 13q14

Monosomy 13q34 syndrome

Del(13)(q34) · Distal deletion 13q34

Monosomy 18p syndrome

18p- syndrome · De Grouchy syndrome type 1

Monosomy 18q syndrome

18q- syndrome · Deletion 18q

Monosomy 22 syndrome

Del(22) · Deletion 22

Monosomy 5p syndrome

Cri du chat syndrome · Deletion 5p

Monosomy 9p syndrome

9p deletion syndrome · 9p- syndrome

Monosomy 9q22.3 syndrome

Microdeletion 9q22.3

Monosomy X syndrome

Mosaic monosomy X syndrome

Mowat-Wilson syndrome due to monosomy 2q22

Hirschsprung disease and intellectual disability due to 2q22 microdeletion · Hirschsprung disease and intellectual disability due to del(2)(q22)

Okihiro syndrome due to 20q13 microdeletion

Duane-radial ray syndrome due to monosomy 20q13 · Okihiro syndrome due to del(20)(q13)

Total autosomal monosomy syndrome

Trisomy 20p syndrome

Dup(20p) · Duplication of 20p