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Isolated optic nerve hypoplasia
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Microphthalmia - cataract
4 OMIM references -
4 associated genes
4 signs/symptoms
Isolated optic nerve hypoplasia
Microphthalmia - cataract

PAX6
(UniProt - OMIM)
 CRYBA4
(UniProt - OMIM)
SIX6
(UniProt - OMIM)
TMEM114
(UniProt - OMIM)
VSX2
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
PAX6
(0.82)
VSX2


Citations in the biomedical literature:


Isolated optic nerve hypoplasia
PAX6
Microphthalmia - cataract
CRYBA4 SIX6 TMEM114 VSX2



Isolated optic nerve hypoplasia
Microphthalmia - cataract

Synonym(s):
(no synonyms)

Synonym(s):
- Congenital cataract - microphthalmia
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
Classification (ICD10):
- Diseases of the eye and adnexa -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
(no data available)
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
External references:
4 OMIM references -
No MeSH references
Microphthalmia - cataract

Frequent
- Anophthalmos / anophthalmia / microphthalmos / microphthalmia
- Autosomal dominant inheritance
- Coloboma of iris
- Retinoschisis / retinal / chorioretinal coloboma



Isolated optic nerve hypoplasia

(no data available)