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Metadata
ID DOID:0060349
Name microcephaly with or without chorioretinopathy, lymphedema, or mental retardation
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.
https://www.ncbi.nlm.nih.gov/pubmed/10482868, https://www.ncbi.nlm.nih.gov/pubmed/11302131, https://www.ncbi.nlm.nih.gov/pubmed/25124931, https://www.ncbi.nlm.nih.gov/pubmed/5936364
Xrefs

MESH:C537711

OMIM:152950

ORDO:2526

UMLS_CUI:C1835265

Subsets

DO_rare_slim

Synonyms

chorioretinal dysplasia-microcephaly-mental retardation syndrome [EXACT]

lymphedema and retinal folds with ficrocephaly and microphthalmos [EXACT]

lymphedema, microcephaly and chorioretinopathy syndrome [EXACT]

microcephaly lymphedema chorioretinal dysplasia [EXACT]

microcephaly, lymphedema, chorioretinal dysplasia syndrome [EXACT]

Parent Relationships

is_a syndrome

is_a autosomal dominant disease

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