Microphthalmia with brain and digit anomalies

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Synonyms: Bakrania-Ragge syndrome | MCOPS6 | Syndromic microphthalmia type 6

Microphthalmia with brain and digit anomalies is characterised by anophthalmia or microphthalmia retinal dystrophy and/or myopia associated in some cases with cerebral anomalies. It has been described in two families. Polydactyly may also be present. Linkage analysis allowed identification of mutations in the BMP4 gene which has already been shown to play a role in eye development.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version July 2024

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