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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
4 OMIM references -
2 associated genes
No signs/symptoms info
Spinocerebellar ataxia type 12
Pure hair and nail ectodermal dysplasia

PPP2R2B HOXC13
KRT85


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
PPP2R2B
(0.56)
KRT85



Citations in the biomedical literature:


Spinocerebellar ataxia type 12
PPP2R2B
Pure hair and nail ectodermal dysplasia
HOXC13 KRT85



Spinocerebellar ataxia type 12
Pure hair and nail ectodermal dysplasia

Synonym(s):
- SCA12

Synonym(s):
- HNED
- Hair-nail ectodermal dysplasia
- PHNED

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare skin disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
(no data available)

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

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

No signs/symptoms info available.