C61270Level 8
I-Cell Disease
**Semantic type:** Disease or Syndrome
**Definition:** An inherited lysosomal storage disease characterized by the presence of dense intracytoplasmic inclusions in mesenchymal cells, especially fibroblasts. Signs and symptoms include developmental delay, psychomotor deterioration, and growth failure.
**Synonyms:** - Inclusion-cell Disease - Mucolipidosis Type II
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