Maternal uniparental disomy of chromosome 6

Orpha code: 96181OMIM code:

Definition

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
Classification

Malformation syndrome

Synonyms
UPD(6)mat
UPD(6)mat
ORPHA code
96181
OMIM code
-
ICD10 code
Q99.8
ICD11 code
-

No additional description.

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