Lysosomal acid phosphatase deficiency

Orpha code: 35121OMIM code: 200950

Definicja

A rare lysosomal disease characterized by intermittent vomiting, hypotonia, lethargy, opisthotonos, and fatal outcome in early infancy, associated with deficient acid phosphatase in lysosomes. There have been no further descriptions in the literature since 1971.

Disease data
Klasyfikacja

Disease

Kod ORPHA
35121
Kod OMIM
200950
Kod ICD10
E83.3
Kod ICD11
5C64.3

No additional description.

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