Pontocerebellar Hypoplasia, Type 2e; Pch2e

Description

Pontocerebellar hypoplasia type 2E is an autosomal recessive neurodegenerative disorder characterized by profound mental retardation, progressive microcephaly, spasticity, and early-onset epilepsy (summary by Feinstein et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of pontocerebellar hypoplasia type 2, see PCH2A (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Pontocerebellar Hypoplasia, Type 2e; Pch2e

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis
  • Spasticity
  • Flexion contracture
  • Hypoplasia of the corpus callosum

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.

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.

Pontocerebellar Hypoplasia, Type 2e; Pch2e Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Microcephaly and pontocerebellar hypoplasia (NGS panel for 52 genes).

By CGC Genetics (Portugal).

STIL, BUB1B, TUBG1, VRK1, SLC25A19, NIN, CASK, TSEN34, ZNF335, PCNT, STAMBP, CLP1, CENPJ, NDE1, EXOSC3, TUBGCP6, IER3IP1, CDK5RAP2, ASPM, MBD5 , (...)

View the complete list with 32 more genes
Specificity
2 %
Genes
100 %
Pontocerebellar Hypoplasia via VPS53 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

VPS53
Specificity
100 %
Genes
100 %
Pontocerebellar Hypoplasia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

VRK1, TSEN34, TSEN15, CLP1, EXOSC3, RARS2, VPS53, TSEN54, TSEN2, SEPSECS, AMPD2, CHMP1A
Specificity
9 %
Genes
100 %
Pontocerebellar hypoplasia type 2E.

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

VPS53
Specificity
100 %
Genes
100 %
VPS53.

By Fulgent Genetics Fulgent Genetics (United States).

VPS53
Specificity
100 %
Genes
100 %

You can get up to -3 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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