PGAP1-Related Encephalopathy in an Infant With Neurodevelopmental Delay: Novel Variant and Review of Literature
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Spastic paraplegia-67, caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis, is an autosomal recessive neurodevelopmental disorder. It is characterized by dysmorphic features, spasticity, brain abnormalities, hypotonia, impaired intellectual d... ...
