Maternal uniparental disomy of chromosome 6

Orpha code: 96181OMIM code:

Definicja

Maternal uniparental disomy of chromosome 6 is an uniparental disomy of maternal origin characterized by intrauterine growth retardation. Homozygosity for a recessive disease mutation for which only a mother is a carrier may lead to other phenotypes.

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
UPD(6)mat
UPD(6)mat
Kod ORPHA
96181
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