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syndromic microphthalmia 6
Summary
- Synonym
-
- Bakrania-Ragge syndrome
- MCOPS6
- anophthalmia clinical with micrognathia malformed ears digital anomalies and abnormal external genitalia
- microphthalmia and pituitary anomalies
- microphthalmia with brain and digit anomalies
- syndromic microphthalmia type 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.
- Super Class
- autosomal dominant disease syndromic microphthalmia
External Links
- Disease Ontology
- DOID:0111805
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P12644 | Bone morphogenetic protein 4 |
