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Human Disease

microcephaly with or without chorioretinopathy, lymphedema, or mental retardation

Term ID
DOID:0060349
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
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. (4)
References
Ontology
Human Disease   ( DOID:0060349 )
Relationships
is a type of
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Genes Involved
Zebrafish Models