hyperphosphatasia with mental retardation 1

hyperphosphatasia with mental retardation 1

An autosomal recessive condition OMIM:239300 characterised by elevated serum alkaline phosphatase, severe mental retardation, seizures, hypotonia, facial dysmorphism, and hypoplastic terminal phalanges.
Molecular pathology Defects in PIGV, which encodes a mannosyltransferase involved in glycosylphosphatidylinositol-anchor biosynthesis, cause hyperphosphatasia with mental retardation type 1.
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