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microcephaly with or without chorioretinopathy, lymphedema, or mental retardation
Summary
- Synonym
-
- 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.
- Super Class
- autosomal dominant disease syndrome
External Links
- Disease Ontology
- DOID:0060349
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P52732 | Kinesin-like protein KIF11 |
