Term Name: | syndromic microphthalmia 6 |
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Synonyms: | anophthalmia clinical with micrognathia malformed ears digital anomalies and abnormal external genitalia, Bakrania-Ragge syndrome, MCOPS6, 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. |
Ontology: | Human Disease [DOID:0111805] ( DOID:0111805 ) |