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aminoacylase-1 deficiency
Pathology:
- atrophy of the vermis & syringomyelia (variable)
Genetics:
- associated with defects in ACY1 gene
Clinical manifestations:
- clinical significance is uncertain
- non-specific psychomotor delay (variable)
- marked muscular hypotonia (variable)
- individuals may be clinically normal
General
genetic disease of the central nervous system
enzyme deficiency
References
UniProt :accession Q03154