199 top medical experts on Hyperphosphatasia with Mental Retardation across 26 countries and 9 U.S. states, including 12 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.
- Hyperphosphatasia with Mental Retardation: A rare, congenital disorder of glycosylation-related bone disorder characterized by hypotonia, severe developmental delay, intellectual disability, seizures, increased serum alkaline phosphatase, short distal phalanges with hypoplastic nails, and dysmorphic facial features. In some cases, cleft palate, megacolon, anorectal malformations, and congenital heart defects have been reported.
- Clinical guidelines are the recommended starting point to understand initial steps and current protocols in any disease or procedure:
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