Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due To Tud Deficiency

Description

Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency is a rare, hereditary ataxia characterized by an early onset symptomatic generalized epilepsy, progressive cerebellar ataxia resulting in significant difficulties to walk or wheelchair dependency, and intellectual disability.

Clinical Features

Top most frequent phenotypes and symptoms related to Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due To Tud Deficiency

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Abnormal facial shape
  • High palate
  • Downslanted palpebral fissures
  • Brachycephaly
  • Gait ataxia
  • Narrow mouth

And another 8 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

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.

Alternative names

Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due To Tud Deficiency Is also known as scar23, spinocerebellar ataxia autosomal recessive type 23.

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.

Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due To Tud Deficiency Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Ataxia Exome Panel.

By Genetic Services Laboratory University of Chicago (United States).

BCS1L, RTN2, SACS, SCN1A, SCN2A, SCN8A, SCO1, SDHA, SDHD, SLC16A2, SLC17A5, SLC19A2, SLC1A3, SLC20A2, SLC2A1, SLC6A1, SLC9A1, SLC9A6, SNAP25, SOD1 , (...)

View the complete list with 457 more genes
Specificity
1 %
Genes
100 %
TDP2.

By Fulgent Genetics Fulgent Genetics (United States).

TDP2
Specificity
100 %
Genes
100 %

You can get up to -6 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Rare Disease Search Engine

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