| Metadata | |
|---|---|
| ID | DOID:0111805 |
| Name | syndromic microphthalmia 6 |
| Definition | A syndromic microphthalmia characterized by clinical anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies that has_material_basis_in heterozygous mutation in the BMP4 gene on chromosome 14q22.2. https://www.ncbi.nlm.nih.gov/pubmed/18252212, https://www.ncbi.nlm.nih.gov/pubmed/21340693 |
| Xrefs |
SNOMEDCT_US_2023_03_01:721878003 |
| Subsets |
DO_rare_slim |
| Synonyms |
anophthalmia clinical with micrognathia malformed ears digital anomalies and abnormal external genitalia [EXACT] Bakrania-Ragge syndrome [EXACT] MCOPS6 [EXACT] microphthalmia and pituitary anomalies [EXACT] microphthalmia with brain and digit anomalies [EXACT] syndromic microphthalmia type 6 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |