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dihydropyrimidinase deficiency
Pathology:
- congenital microvillous atrophy
Genetics:
- autosomal recessive
- associated with defects in DPYS
Clinical manifestations:
- variable clinical phenotype
- epilepsy
- dysmorphic features
- severe developmental delay
Laboratory:
- dihydropyrimidine in urine: dihydropyrimidinuria
General
inborn error of metabolism
Database Correlations
OMIM 222748
References
OMIM :accession 222748