ZFIN Human Disease: microcephaly with or without chorioretinopathy, lymphedema, or mental retardation

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 by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability. (4)
References:	MESH:C537711 OMIM:152950 ORDO:2526 UMLS_CUI:C1835265
Ontology:	Human Disease ( DOID:0060349 )

Relationships

is a type of:	autosomal dominant disease syndrome autosomal dominant disease syndrome Show first 5 Terms

OTHER microcephaly with or without chorioretinopathy, lymphedema, or mental retardation PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
KIF11	kif11	Microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual development	152950

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS (1)