Ataxia-telangiectasia-like Disorder 2; Atld2
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 ).
Genes related to Ataxia-telangiectasia-like Disorder 2; Atld2
Clinical FeaturesTop most frequent phenotypes and symptoms related to Ataxia-telangiectasia-like Disorder 2; Atld2
- Global developmental delay
- Short stature
- Hearing impairment
- Sensorineural hearing impairment
- Muscle weakness
- Flexion contracture
Incidence and onset information— Not enough data available about incidence and published cases.
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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
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
By Fulgent Genetics Fulgent Genetics in United States.
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