| Metadata | |
|---|---|
| ID | DOID:0111803 |
| Name | syndromic microphthalmia 8 |
| Definition | A syndromic microphthalmia characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs, prognathism and intellectual disability that has_material_basis_in mutation in a region of chromosome 6q21. https://www.ncbi.nlm.nih.gov/pubmed/12471201 |
| Xrefs |
SNOMEDCT_US_2023_03_01:715533002 |
| Subsets |
DO_rare_slim |
| Synonyms |
MCOPS8 [EXACT] microcephaly-microphthalmia-ectrodactyly of lower limbs-prognathism syndrome [EXACT] MMEP syndrome [EXACT] syndromic microphthalmia type 8 [EXACT] Viljoen-Smart syndrome [EXACT] |
| Parent Relationships |