Glycosylphosphatidylinositol Biosynthesis Defect 11; Gpibd11

Description

GPIBD11 is an autosomal recessive disorder characterized by neonatal hypotonia, lack of psychomotor development, and variable seizures. Some patients may have dysmorphic features or increased serum alkaline phosphatase. The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis (summary by Hogrebe et al., 2016).For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Glycosylphosphatidylinositol Biosynthesis Defect 11; Gpibd11

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Abnormal facial shape
  • Wide nasal bridge
  • Absent speech
  • Neonatal hypotonia
  • Macroglossia
  • Hypsarrhythmia

And another 3 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

Glycosylphosphatidylinositol Biosynthesis Defect 11; Gpibd11 Is also known as hyperphosphatasia with mental retardation syndrome 5, hpmrs5.

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.

Glycosylphosphatidylinositol Biosynthesis Defect 11; Gpibd11 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
PIGW.

By Fulgent Genetics Fulgent Genetics (United States).

PIGW
Specificity
100 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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