Glycosylphosphatidylinositol Biosynthesis Defect 15; Gpibd15

Description

GPIBD15 is an autosomal recessive disorder characterized by delayed psychomotor development, variable intellectual disability, hypotonia, early-onset seizures in most patients, and cerebellar atrophy, resulting in cerebellar signs including gait ataxia and dysarthria. The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis (summary by Nguyen et al., 2017).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 15; Gpibd15

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Hypertelorism
  • Nystagmus
  • Abnormal facial shape
  • Spasticity
  • Cognitive impairment

And another 29 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

Glycosylphosphatidylinositol Biosynthesis Defect 15; Gpibd15 Is also known as developmental delay, epilepsy, cerebellar atrophy, and osteopenia.

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.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Glycosylphosphatidylinositol Biosynthesis Defect 15; Gpibd15 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
GPAA1.

By Fulgent Genetics Fulgent Genetics (United States).

GPAA1
Specificity
100 %
Genes
100 %

We have -7 more panels available in our App

Get the app

Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like MENTAL RETARDATION, X-LINKED, ASSOCIATED WITH FRAGILE SITE FRAXE DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT; DFNB4 3-METHYLGLUTACONIC ACIDURIA, TYPE VIII; MGCA8 HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE; HTGTI CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U; CMT2U ARTERIAL TORTUOSITY SYNDROME; ATS HURLER SYNDROME

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more