Term Name: syndromic microphthalmia 6
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 )

Relationships
is a type of: autosomal dominant disease syndromic microphthalmia