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.

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Incidence and onset information

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.


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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 %

We have -6 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like MECKEL SYNDROME, TYPE 8; MKS8 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1; ARCI1 SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY; SMDCRD CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iy; CDG1Y CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1F; CMT1F AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC

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