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Hyperphosphatasia with intellectual disability syndrome 4
Did you mean hypophosphatasia with intellectual disability syndrome 4?
- ... a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual ... retardation syndrome due to PIGV mutations: expanded clinical spectrum. Am ...
- ... to cause Mabry syndrome. The features of Mabry syndrome include intellectual disability, distinctive facial features, increased levels of an enzyme called alkaline phosphatase in the blood (hyperphosphatasia), and other signs and symptoms. These mutations change ...
