Ataxia-intellectual Disability-oculomotor Apraxia-cerebellar Cysts Syndrome

Description

Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome is a rare neuro-ophthalmological disease characterized by nonprogressive cerebellar ataxia, delayed motor and language development and intellectual disability, in addition to ophthalmological abnormalities (e.g. oculomotor apraxia, strabismus, amblyopia, retinal dystrophy and myopia). Cerebellar cysts, cerebellar dysplasia and cerebellar vermis hypoplasia, seen on magnetic resonance imaging, are also characteristic of the disease.

Clinical Features

Top most frequent phenotypes and symptoms related to Ataxia-intellectual Disability-oculomotor Apraxia-cerebellar Cysts Syndrome

  • Intellectual disability
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Strabismus
  • Muscle weakness
  • Muscular hypotonia
  • Delayed speech and language development
  • Motor delay
  • Myopia

And another 17 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-intellectual Disability-oculomotor Apraxia-cerebellar Cysts Syndrome Is also known as poretti-boltshauser syndrome.

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-intellectual Disability-oculomotor Apraxia-cerebellar Cysts 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 %
Poretti-Boltshauser syndrome (sequence analysis of LAMA1 gene).

By CGC Genetics (Portugal).

LAMA1
Specificity
100 %
Genes
100 %
Poretti-Boltshauser syndrome (sequence analysis of LAMA1 gene).

By CGC Genetics (Portugal).

LAMA1
Specificity
100 %
Genes
100 %
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

RGS9, RHO, GRK1, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, RS1, CNNM4, SAG, SDCCAG8, SEMA4A, SLC24A1, SLC4A7, SPP2, PLK4, TEAD1 , (...)

View the complete list with 286 more genes
Specificity
1 %
Genes
100 %
Mental retardation - different panels.

By Institute of Human Genetics Uniklinik RWTH Aachen (Germany).

RGS7, RIT1, RMRP, BCS1L, RPL10, RPS6KA3, RRAS, SALL1, SC5D, ATXN10, BLM, SCN1A, SCN2A, SCN8A, SCO2, AIMP1, SDCCAG8, SDHA, SDHB, SGSH , (...)

View the complete list with 845 more genes
Specificity
1 %
Genes
100 %
Poretti-Boltshauser syndrome.

By Centogene AG - the Rare Disease Company (Germany).

LAMA1
Specificity
100 %
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 %
Single gene testing LAMA1.

By CeGaT GmbH (Germany).

LAMA1
Specificity
100 %
Genes
100 %

You can get up to 7 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Rare Disease Search Engine

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