| 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/25124931, https://www.ncbi.nlm.nih.gov/pubmed/11302131, https://www.ncbi.nlm.nih.gov/pubmed/5936364 |
| Xrefs | |
| 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 autosomal dominant disease is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |