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 http://www.orphadata.org. Data version April 2024
Newly diagnosed with
Syndromic microphthalmia type 5?
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Advocacy Organizations
Syndromes Without A Name (SWAN) Australia
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Clinical Trials
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