Rare Disease Library

Angelman syndrome due to maternal 15q11q13 deletion

Angelman syndrome due to maternal monosomy 15q11q13

Alagille syndrome due to 20p12 microdeletion

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

Angelman syndrome

Angelman syndrome due to a point mutation

Angelman syndrome due to imprinting defect in 15q11-q13

Angelman syndrome due to paternal uniparental disomy of chromosome 15

UPD(15)pat

Autosomal monosomy syndrome

Autosomal deletion

Kleefstra syndrome due to 9q34 microdeletion

9q subtelomeric deletion syndrome · 9qSTDS

Monosomy 18p syndrome

18p- syndrome · De Grouchy syndrome type 1

Monosomy 18q syndrome

18q- syndrome · Deletion 18q

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)

Prader-Willi syndrome due to paternal 15q11q13 deletion

Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1

Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2

Temple syndrome due to maternal uniparental disomy of chromosome 14

UPD(14)mat

Total autosomal monosomy syndrome