syndromic microphthalmia 6 (DOID:0111805)
Alliance: disease page
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
Alt IDs: OMIM:607932, MESH:C566440, ORDO:139471, UMLS_CUI:C1864689
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.