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ZIRC
OBO ID: DOID:0060349
Term Name: microcephaly with or without chorioretinopathy, lymphedema, or mental retardation Search Ontology:
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 byvariable 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)
OTHER microcephaly with or without chorioretinopathy, lymphedema, or mental retardation PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
KIF11 Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 152950
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS (1)