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Syndromic microphthalmia type 5

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Name:
Syndromic microphthalmia type 5
Description:
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.
ORPHAcode:
178364
Synonyms:
MCOPS5
Syndromic microphthalmia/anophthalmia due to OTX2 mutation
XREF(s):
Orphanet
ICD-10
OMIM
Analyte(s):
OTX2
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14