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2 OMIM references -
2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Carpenter syndrome
Dentatorubral pallidoluysian atrophy

MEGF8 ATN1
RAB23


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
MEGF8
(0.63)
ATN1



Citations in the biomedical literature:


Carpenter syndrome
MEGF8 RAB23
Dentatorubral pallidoluysian atrophy
ATN1



Carpenter syndrome
Dentatorubral pallidoluysian atrophy

Synonym(s):
- ACPS 2
- Acrocephalopolysyndactyly type 2

Synonym(s):
- DRPLA
- Dentatorubropallidoluysian atrophy
- Naito-Oyanagi disease

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

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal dominant

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

No signs/symptoms info available.