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7 OMIM references -
7 associated genes
No signs/symptoms info
COMMON GENES: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Isolated anophthalmia - microphthalmia
Syndromic microphthalmia type 5

ALDH1A3 OTX2
GDF3
OTX2
PRSS56
RAX
SOX2
VSX2


COMMON
GENES
OTX2



Citations in the biomedical literature:


Isolated anophthalmia - microphthalmia
ALDH1A3 GDF3 OTX2 PRSS56 RAX SOX2
VSX2
Syndromic microphthalmia type 5



Isolated anophthalmia - microphthalmia
Syndromic microphthalmia type 5

Synonym(s):
- Clinical anophthalmia
- Isolated pure microphthalmia
- Primitive anophthalmia

Synonym(s):
- MCOPS5
- Syndromic microphthalmia/anophthalmia due to OTX2 mutation

Classification (Orphanet):
(no data available)
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant

External references:
7 OMIM references -
No MeSH references
External references:
1 OMIM reference -
No MeSH references

No signs/symptoms info available.