Lysosomal acid phosphatase deficiency

Orpha code: 35121OMIM code: 200950

Definition

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
Classification

Disease

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

No additional description.

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