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Results 1 - 1 of 1 for Hyperphosphatasia with intellectual disability syndrome 4
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  1. Mabry syndrome 
    ... a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual ... retardation syndrome due to PIGV mutations: expanded clinical spectrum. Am ...
    https://medlineplus.gov/genetics/condition/mabry-syndrome - Genetics