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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 3
6 OMIM references -
4 associated genes
No signs/symptoms info
Fatal infantile hypertonic myofibrillar myopathy
Cerulean cataract

CRYAB CRYBB2
CRYGD
MAF
MIP


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CRYAB
CRYAB
CRYAB
(0.89)
(0.79)
(0.65)
CRYBB2
CRYGD
MIP



Citations in the biomedical literature:


Fatal infantile hypertonic myofibrillar myopathy
CRYAB
Cerulean cataract
CRYBB2 CRYGD MAF MIP



Fatal infantile hypertonic myofibrillar myopathy
Cerulean cataract

Synonym(s):
(no synonyms)

Synonym(s):
- Blue-dot cataract

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease

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

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:
6 OMIM references -
1 MeSH reference: C537955

No signs/symptoms info available.