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lethal congenital contracture syndrome type 3; Israeli Bedouin multiple contracture syndrome type B (LCCS3)
Genetics:
- autosomal recessive
- associated with defects in P5K1C
Clinical manifestations:
- patients present at birth with
- severe multiple joint contractures
- severe muscle atrophy, mainly in the legs
- absence of hydrops, fractures, & multiple pterygia
General
congenital anomaly (birth defect)
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 611369
References
- UniProt :accession O60331
- OMIM :accession 611369