Syndromic microphthalmia type 5

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Syndromic microphthalmia type 5

Synonyms: MCOPS5 | Syndromic microphthalmia/anophthalmia due to OTX2 mutation

Syndromic microphthalmia type 5 is characterized by the association of a range of ocular anomalies (anophthalmia microphthalmia and retinal abnormalities) with variable developmental delay and central nervous system malformations.

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 Data version February 2024

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Syndromic microphthalmia type 5?

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