Maternal uniparental disomy of chromosome 22

Orpha code: 96188OMIM code:

Definicja

Maternal uniparental disomy of chromosome 22 is a uniparental disomy of maternal origin that does not seem to have an adverse impact on the phenotype of an individual. There is a possibility of homozygosity for a recessive disease mutation for which the mother is a carrier and specific phenotype depends on the inherited disorder.

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
UPD(22)mat
UPD(22)mat
Kod ORPHA
96188
Kod OMIM
-
Kod ICD10
Q99.8
Kod ICD11
-

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl