Encephalopathy due to prosaposin deficiency
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Sign InDescription
Combined saposin deficiency (PSAPD), a deficiency of prosaposin and saposins A, B, C, and D, is a fatal infantile storage disorder with hepatosplenomegaly and severe neurologic disease (summary by Hulkova et al., 2001).
Mode of Inheritance
- Autosomal recessive inheritance
VARIANTS
118