1. Mendelian
  2. Rare Diseases
  3. GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY; GRIDHH

Growth Retardation, Intellectual Developmental Disorder, Hypotonia, And Hepatopathy; Gridhh

Table of contents:

Description

GRIDHH is an autosomal recessive multisystem disorder characterized by intellectual disability, poor overall growth, hypotonia, and variable liver dysfunction. Additional features, such as seizures and hearing loss, may also be present (summary by Kopajtich et al., 2016).

Genes related to Growth Retardation, Intellectual Developmental Disorder, Hypotonia, And Hepatopathy; Gridhh

  • IARS

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Clinical Features

Top most frequent phenotypes and symptoms related to Growth Retardation, Intellectual Developmental Disorder, Hypotonia, And Hepatopathy; Gridhh

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly
  • Growth delay
  • Failure to thrive
  • Sensorineural hearing impairment
  • Spasticity

And another 14 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.

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.

Growth Retardation, Intellectual Developmental Disorder, Hypotonia, And Hepatopathy; Gridhh Recommended genes panels

Panel Name, Specifity and genes Tested/covered
IARS.

By Fulgent Genetics Fulgent Genetics (United States).

IARS
Specificity
100 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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