microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (DOID:0060349)
Alliance: disease page
Synonyms: chorioretinal dysplasia-microcephaly-mental retardation syndrome; lymphedema and retinal folds with ficrocephaly and microphthalmos; lymphedema, microcephaly and chorioretinopathy syndrome; microcephaly lymphedema chorioretinal dysplasia; microcephaly, lymphedema, chorioretinal dysplasia syndrome
Alt IDs: OMIM:152950, MESH:C537711, ORDO:2526, UMLS_CUI:C1835265
Definition: A syndrome characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability.