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1 OMIM reference -
1 associated gene
No signs/symptoms info
COMMON GENES: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Fatal infantile hypertonic myofibrillar myopathy
Alpha-crystallinopathy

CRYAB CRYAB


COMMON
GENES
CRYAB



Citations in the biomedical literature:


Fatal infantile hypertonic myofibrillar myopathy
CRYAB
Alpha-crystallinopathy



Fatal infantile hypertonic myofibrillar myopathy
Alpha-crystallinopathy

Synonym(s):
(no synonyms)

Synonym(s):
- CRYAB-related myofobrillar myopathy

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
(no data available)

Classification (ICD10):
- Diseases of the nervous system -
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: before age 5
Type of inheritance: autosomal recessive
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.