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prolidase deficiency
Genetics:
- autosomal recessive form associated with defects in PEPD
Clinical manifestations:
- skin ulcers
- mental retardation
- recurrent infections
- characteristic facies
- features are incompletely penetrant & highly variable in both age of onset & severity
General
enzyme deficiency
Database Correlations
OMIM 170100
References
OMIM :accession 170100