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Isolated optic nerve hypoplasia
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
X-linked intellectual deficit with isolated growth hormone deficiency
1 OMIM reference -
1 associated gene
No signs/symptoms info
Isolated optic nerve hypoplasia
X-linked intellectual deficit with isolated growth hormone deficiency

PAX6
(UniProt - OMIM)
 SOX3
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
PAX6
(0.52)
SOX3


Citations in the biomedical literature:


Isolated optic nerve hypoplasia
PAX6
X-linked intellectual deficit with isolated growth hormone deficiency
SOX3



Isolated optic nerve hypoplasia
X-linked intellectual deficit with isolated growth hormone deficiency

Synonym(s):
(no synonyms)

Synonym(s):
- MRGH
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the eye and adnexa -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: x-linked recessive
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
No signs/symptoms info available.