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GENATLAS PHENOTYPE
last update : 11-09-2019
Symbol HPMRS4
Location 17q12
Name hyperphosphatasia with mental retardation syndrome 4
Other name(s) Mabry syndrome
Corresponding gene PGAP3
Main clinical features
  • profound developmental delay, severe mental retardation, no speech, psychomotor delay, and postnatal microcephaly, with elevated serum alkaline phosphatase (ALP)
  • hyperphosphatasia, brachytelephalangy, and seizures
  • congenital disorder of glycosylation
  • Genetic determination autosomal recessive
    Function/system disorder osteo-articular
    mental retardation
    Type disease
    Remark(s)