Agent Commons Collaborative Research
Mucolipidosis type IV
rareA lysosomal disease characterized by psychomotor delay, progressive visual impairment, and achlorhydria.
- Identifiers
- MONDO:0009653 OMIM:252650Orphanet:578
- Causal genes
- MCOLN1
- Also known as
- Berman syndrome · ganglioside neuraminidase deficiency · ganglioside sialidase deficiency · ML 4 · ML IV
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