Neurodevelopmental Disorder With Severe Motor Impairment And Absent Language; Nedmial
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
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.
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 % |
You can get up to -7 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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