Hyperphosphatasia with mental retardation syndrome
id:
hyperphosphatasia-with-mental-retardation-syndrome-265-3401797
title:
Hyperphosphatasia with mental retardation syndrome
text:
Hyperphosphatasia with mental retardation syndrome, HPMRS, also known as Mabry syndrome, has been described in patients recruited on four continents world-wide. Mabry syndrome was confirmed to represent an autosomal recessive syndrome characterized by severe mental retardation, considerably elevated serum levels of alkaline phosphatase, hypoplastic terminal phalanges, and distinct facial features that include: hypertelorism, a broad nasal bridge and a rectangular face.
brand slug:
wiki
category slug:
encyclopedia
description:
Medical condition
original url:
https://en.wikipedia.org/wiki/Hyperphosphatasia_with_mental_retardation_syndrome
date created:
date modified:
2023-12-03T16:51:15Z
main entity:
{"identifier":"Q3144186","url":"https://www.wikidata.org/entity/Q3144186"}
image:
{"content_url":"https://upload.wikimedia.org/wikipedia/commons/f/f1/Autosomal_recessive_-_en.svg","width":738,"height":1283}
fields total:
13
integrity:
15