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Lethal congenital contracture syndrome type 3
2 OMIM references -
2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Congenital myopathy, Paradas type
1 associated gene
No signs/symptoms info
Lethal congenital contracture syndrome type 3
Congenital myopathy, Paradas type

MYBPC1
(UniProt - OMIM)
 DYSF
(UniProt - OMIM)
PIP5K1C
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
MYBPC1
(0.63)
DYSF


Citations in the biomedical literature:


Lethal congenital contracture syndrome type 3
MYBPC1 PIP5K1C
Congenital myopathy, Paradas type
DYSF



Lethal congenital contracture syndrome type 3
Congenital myopathy, Paradas type

Synonym(s):
- LCCS3
Synonym(s):
(no synonyms)
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:
(no data available)
External references:
2 OMIM references -
No MeSH references
External references:
No OMIM references
No MeSH references
No signs/symptoms info available.