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  2. Hyperphosphatasia with mental retardation syndrome

Hyperphosphatasia with mental retardation syndrome

Definition:

Hyperphosphatasia with mental retardation syndrome (HPMRS), also known as Mabry syndrome, is an autosomal recessive disorder comprising intellectual disability and elevated levels of serum alkaline phosphatase, often accompanied by seizures, facial dysmorphism, and various anomalies such as brachytelephalangy. Mutation in different genes result in phenotypic variation.

References:

Biomedical Dictionary

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