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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
Lethal congenital contracture syndrome type 3
Autosomal recessive limb girdle muscular dystrophy type 2A

MYBPC1 CAPN3
PIP5K1C


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
MYBPC1
(0.63)
CAPN3



Citations in the biomedical literature:


Lethal congenital contracture syndrome type 3
MYBPC1 PIP5K1C
Autosomal recessive limb girdle muscular dystrophy type 2A
CAPN3



Lethal congenital contracture syndrome type 3
Autosomal recessive limb girdle muscular dystrophy type 2A

Synonym(s):
- LCCS3

Synonym(s):
- LGMD2A
- Limb girdle muscular dystrophy due to calpain deficiency
- Primary calpainopathy

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- 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: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: variable
Average age of death: normal
Type of inheritance: autosomal recessive

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

No signs/symptoms info available.