1. Mendelian
  2. Rare Diseases
  3. NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE; NEDMIAL

Neurodevelopmental Disorder With Severe Motor Impairment And Absent Language; Nedmial

Table of contents:

Description

NEDMIAL is a neurodevelopmental disorder characterized by severely delayed psychomotor development and hypotonia apparent from early infancy, resulting in feeding difficulties, ataxic gait or inability to walk, minimal or absent speech development, and severe intellectual disability, often with behavioral abnormalities, such as hand-flapping. Additional common features may include sleep disorder, nonspecific dysmorphic facial features, and joint hyperlaxity (summary by Lessel et al., 2017).

Genes related to Neurodevelopmental Disorder With Severe Motor Impairment And Absent Language; Nedmial

  • DHX30

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Clinical Features

Top most frequent phenotypes and symptoms related to Neurodevelopmental Disorder With Severe Motor Impairment And Absent Language; Nedmial

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly
  • Ataxia
  • Strabismus
  • Abnormal facial shape
  • Low-set ears

And another 22 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.

Neurodevelopmental Disorder With Severe Motor Impairment And Absent Language; Nedmial Recommended genes panels

Panel Name, Specifity and genes Tested/covered
DHX30.

By Fulgent Genetics Fulgent Genetics (United States).

DHX30
Specificity
100 %
Genes
100 %

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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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