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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Autosomal dominant keratitis
X-linked intellectual deficit with isolated growth hormone deficiency

PAX6 SOX3


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Autosomal dominant keratitis
PAX6
X-linked intellectual deficit with isolated growth hormone deficiency
SOX3



Autosomal dominant keratitis
X-linked intellectual deficit with isolated growth hormone deficiency

Synonym(s):
- Hereditary keratitis

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:
Class of prevalence: unknown
Average age onset: childhood
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: x-linked recessive

External references:
1 OMIM reference -
1 MeSH reference: C537022
External references:
1 OMIM reference -
No MeSH references

No signs/symptoms info available.