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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
Isolated optic nerve hypoplasia
X-linked congenital generalized hypertrichosis

PAX6 SOX3


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 congenital generalized hypertrichosis
SOX3



Isolated optic nerve hypoplasia
X-linked congenital generalized hypertrichosis

Synonym(s):
(no synonyms)

Synonym(s):
- Congenital generalized hypertrichosis, Macias-Flores type
- Macias Flores-Garcia Cruz-Rivera syndrome

Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare skin 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:
1 OMIM reference -
No MeSH references

No signs/symptoms info available.