Ataxia-telangiectasia-like Disorder

Clinical Features

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

  • Short stature
  • Generalized hypotonia
  • Ataxia
  • Delayed speech and language development
  • Dysarthria
  • Cerebellar atrophy
  • Dystonia
  • Pes cavus
  • Myoclonus
  • Gait ataxia

And another 24 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

Ataxia-telangiectasia-like Disorder Is also known as atld.

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.

Ataxia-telangiectasia-like Disorder Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hereditary Brain, CNS, PNS Cancer Panel.

By Baylor Miraca Genetics Laboratories (United States).

TP53, VHL, SUFU, PALB2, ALK, APC, MEN1, MLH1, MRE11, MSH2, MSH6, NBN, NF2, ATM, PMS2, PHOX2B, PTCH1
Specificity
6 %
Genes
100 %
Hereditary Brain, CNS, PNS Cancer Panel.

By Baylor Miraca Genetics Laboratories (United States).

TP53, VHL, SUFU, PALB2, ALK, APC, MEN1, MLH1, MRE11, MSH2, MSH6, NBN, NF2, ATM, PMS2, PHOX2B, PTCH1
Specificity
6 %
Genes
100 %
Comprehensive Hereditary Cancer Panel.

By Baylor Miraca Genetics Laboratories (United States).

RUNX1, SDHA, SDHB, SDHC, SDHD, BMPR1A, BRCA1, BRCA2, STK11, EPCAM, TP53, VHL, WT1, CBL, SUFU, CDC73, CDH1, CDK4, CDKN1C, CDKN2A , (...)

View the complete list with 39 more genes
Specificity
2 %
Genes
100 %
Ataxia, Supplemental Recessive Evaluation.

By Athena Diagnostics Inc (United States).

SACS, TTPA, APTX, COQ8A, SYNE1, TDP1, SYT14, SIL1, FLVCR1, ANO10, MTPAP, AFG3L2, SETX, GRM1, MRE11, ATM, POLG
Specificity
6 %
Genes
100 %
Ataxia, Complete Recessive Evaluation.

By Athena Diagnostics Inc (United States).

SACS, TTPA, APTX, COQ8A, SYNE1, TDP1, SYT14, SIL1, FLVCR1, ANO10, MTPAP, AFG3L2, FXN, SETX, GRM1, MRE11, ATM, POLG
Specificity
6 %
Genes
100 %
Ataxia, Comprehensive Evaluation.

By Athena Diagnostics Inc (United States).

SACS, ATXN1, ATXN10, ATXN2, ATXN7, ATXN8OS, SLC1A3, SPTBN2, TBP, TTPA, VAMP1, CACNA1A, CACNB4, APTX, TGM6, COQ8A, SYNE1, TDP1, TTBK2, SYT14 , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
100 %
Inherited Cancer Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

BLM, SDHB, BMPR1A, BRCA1, BRCA2, STK11, EPCAM, TP53, TSC1, TSC2, VHL, XRCC2, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, BRIP1, SDHAF2, TMEM127 , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
100 %
VisaSeq Breast and GYN Cancer Panel.

By Molecular Diagnostic Laboratory University of Alberta (Canada).

BRCA1, BRCA2, STK11, EPCAM, TP53, CDH1, BRIP1, ABRAXAS1, PALB2, FANCC, MLH1, MRE11, MSH2, MSH6, MUTYH, NBN, NF1, ATM, PMS2, BARD1 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %

You can get up to 90 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Search Engine

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