Progressive Autosomal Recessive Ataxia-deafness Syndrome

Description

Lichtenstein-Knorr syndrome is an autosomal recessive neurologic disorder characterized by postnatal onset of severe progressive sensorineural hearing loss and progressive cerebellar ataxia. Features usually develop in childhood or young adulthood (summary by Guissart et al., 2015).

Clinical Features

Top most frequent phenotypes and symptoms related to Progressive Autosomal Recessive Ataxia-deafness Syndrome

  • Seizures
  • Short stature
  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment
  • Motor delay
  • Peripheral neuropathy
  • Dysarthria
  • Tremor

And another 14 symptoms. If you need more information about this disease we can help you.

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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

Progressive Autosomal Recessive Ataxia-deafness Syndrome Is also known as scar19, progressive autosomal recessive ataxia-sensorineural hearing loss syndrome, lichtenstein-knorr syndrome, spinocerebellar ataxia, autosomal recessive 19.

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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Progressive Autosomal Recessive Ataxia-deafness Syndrome 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 %
Ataxia and differential diagnoses Panel.

By CeGaT GmbH (Germany).

RPIA, SACS, ATXN1, ATXN10, ATXN2, ATXN7, SCN2A, SLC17A5, SLC1A3, SLC6A1, SLC9A1, SNAP25, BTD, SPG7, SPR, SPTBN2, STUB1, TBP, TWNK, ACO2 , (...)

View the complete list with 184 more genes
Specificity
1 %
Genes
100 %
Ataxia, autosomal recessive and X-linked Panel.

By CeGaT GmbH (Germany).

SACS, SLC9A1, SPG7, SPTBN2, STUB1, TTPA, WWOX, ATP8A2, CA8, SNX14, APTX, COQ8A, PRICKLE1, SYNE1, PMPCA, TDP1, TPP1, RNF216, CP, SYT14 , (...)

View the complete list with 26 more genes
Specificity
3 %
Genes
100 %
Spinocerebellar Ataxia.

By Asper Biogene Asper Biogene LLC (Estonia).

SACS, SLC9A1, SLC9A6, SPTBN2, STUB1, TWNK, ACO2, TTPA, WFS1, WWOX, ATP8A2, ELOVL4, NPC2, CASK, SNX14, ABHD12, NOP56, APTX, TGM6, PNPLA6 , (...)

View the complete list with 45 more genes
Specificity
2 %
Genes
100 %
SLC9A1.

By Fulgent Genetics Fulgent Genetics (United States).

SLC9A1
Specificity
100 %
Genes
100 %

We have -3 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like NOVELTY SEEKING PERSONALITY TRAIT POLYMICROGYRIA, BILATERAL FRONTOPARIETAL; BFPP HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA; HH20 AUTISM, SUSCEPTIBILITY TO, 18; AUTS18 ALSTROM SYNDROME; ALMS

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