Hyperphosphatasia With Mental Retardation Syndrome 6; Hpmrs6

Description

Hyperphosphatasia with mental retardation syndrome-6 (HPMRS6) is an autosomal recessive multisystem disorder characterized by global developmental delay, dysmorphic features, seizures, and congenital cataracts. Severity is variable, and the disorder may show a range of phenotypic and biochemical abnormalities, including increased serum alkaline phosphatase levels (summary by Ilkovski et al., 2015). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis.For a discussion of genetic heterogeneity of HPMRS, see HPMRS1 (OMIM ).For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Hyperphosphatasia With Mental Retardation Syndrome 6; Hpmrs6

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay
  • Strabismus
  • Cataract
  • Flexion contracture
  • High palate

And another 43 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Hyperphosphatasia With Mental Retardation Syndrome 6; Hpmrs6 Is also known as gpibd12, glycosylphosphatidylinositol biosynthesis defect 12.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Hyperphosphatasia With Mental Retardation Syndrome 6; Hpmrs6 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Syndromic Intellectual Disability via PIGY Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

PIGY
Specificity
100 %
Genes
50 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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