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  3. NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER; NDAGSCW

Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter; Ndagscw

Table of contents:

Description

NDAGSCW is a neurodevelopmental disorder characterized by severely delayed psychomotor development apparent from infancy. Affected individuals have delayed and difficulty walking, intellectual disability, absent speech, and variable additional features, including hip dysplasia, tapering fingers, and seizures. Brain imaging shows decreased cortical white matter, often with decreased cerebellar white matter, thin corpus callosum, and thin brainstem (summary by Lamers et al., 2017).

Genes related to Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter; Ndagscw

  • RAB11B

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Clinical Features

Top most frequent phenotypes and symptoms related to Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter; Ndagscw

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Nystagmus
  • Strabismus
  • Abnormal facial shape
  • Spasticity
  • Visual impairment

And another 30 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 Ataxic Gait, Absent Speech, And Decreased Cortical White Matter; Ndagscw Recommended genes panels

Panel Name, Specifity and genes Tested/covered
RAB11B.

By Fulgent Genetics Fulgent Genetics (United States).

RAB11B
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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