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Microcephaly-lymphedema-chorioretinopathy syndrome

ORPHA:2526· ICD-10 Q87.8

Definition

Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) is a rare autosomal dominant condition characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability.

Prevalence
<1 / 1 000 000
Inheritance
Autosomal dominant
Age of onset
Neonatal