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Isolated microphthalmia-anophthalmia-coloboma

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Name:
Isolated microphthalmia-anophthalmia-coloboma
Description:
A non-syndromic group of structural developmental eye defects characterized by the variable combination of microphthalmia, ocular coloboma, and anophthalmia, either unilaterally or bilaterally, with no other associated ocular conditions in the affected/contralateral eye, and no systemic anomalies.
ORPHAcode:
2542
Synonyms:
Isolated anophthalmia-microphthalmia syndrome
XREF(s):
Orphanet
OMIM
OMIM
OMIM
OMIM
OMIM
OMIM
OMIM
ICD-10
ICD-10
ICD-10
OMIM
Analyte(s):
SIX6
SOX2
OTX2
VSX2
RAX
ALDH1A3
GDF3
Created:
13 May 2019 - 01:02
Changed:
01 Aug 2021 - 06:46