Ataxia-telangiectasia-like Disorder 2; Atld2

Description

Ataxia-telangiectasia-like disorder-2 is an autosomal recessive syndrome resulting from defects in DNA excision repair. Affected individuals have a neurodegenerative phenotype characterized by developmental delay, ataxia, and sensorineural hearing loss. Other features include short stature, cutaneous and ocular telangiectasia, and photosensitivity (summary by Baple et al., 2014).For a discussion of genetic heterogeneity of ATLD, see ATLD1 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Ataxia-telangiectasia-like Disorder 2; Atld2

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Ataxia
  • Sensorineural hearing impairment
  • Muscle weakness
  • Flexion contracture
  • Dysarthria
  • Dysphagia
And another 11 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.


Mendelian

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Ataxia-telangiectasia-like Disorder 2; Atld2 Recommended genes panels

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

By Genetic Services Laboratory University of Chicago in United States.

FMR1, TTR, UBE3A, AARS2, ABHD12, PC, UQCRQ, UQCRB, HLCS, BTD, ATP7B, ATPAF2, AUH, BCKDHA, BCKDHB, BCS1L, TWNK, C12orf65, ADSL, PRKCG , (...)

View the complete list with 460 more genes
Specificity
1 %
Genes
100 %
Ataxia and differential diagnoses Panel.

By CeGaT GmbH in Germany.

FMR1, AARS2, ABHD12, UQCRQ, BTD, ATP7B, AUH, TWNK, PRKCG, PAX6, INPP5E, AMACR, OPA1, WFS1, GLB1, CC2D2A, ELOVL4, TMEM67, NPHP1, CEP290 , (...)

View the complete list with 184 more genes
Specificity
1 %
Genes
100 %
PCNA.

By Fulgent Genetics Fulgent Genetics in United States.

PCNA
Specificity
100 %
Genes
100 %

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