Pontocerebellar Hypoplasia, Type 2d; Pch2d

Description

PCH2D is an autosomal recessive disorder characterized by progressive microcephaly, postnatal onset of progressive atrophy of the cerebrum and cerebellum, profound mental retardation, spasticity, and variable seizures (summary by Ben-Zeev et al., 2003).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 2d; Pch2d

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Ataxia
  • Spasticity
  • Flexion contracture
  • Hypoplasia of the corpus callosum
  • Cerebellar atrophy
  • Dystonia

And another 15 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

Pontocerebellar Hypoplasia, Type 2d; Pch2d Is also known as pcca, cerebellocerebral atrophy, progressive.

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.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Pontocerebellar Hypoplasia, Type 2d; Pch2d Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Cerebellar/Pontocerebellar Hypoplasia Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

TUBA8, VLDLR, VRK1, CASK, TSEN34, CDK5, EXOSC3, TUBA1A, TUBB3, RARS2, TSEN54, TSEN2, SEPSECS, TUBB2B, AMPD2, OPHN1, CHMP1A, RELN
Specificity
6 %
Genes
100 %
Cerebellar/Pontocerebellar Hypoplasia Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago (United States).

TUBA8, VLDLR, VRK1, CASK, TSEN34, CDK5, EXOSC3, TUBA1A, TUBB3, RARS2, TSEN54, TSEN2, SEPSECS, TUBB2B, AMPD2, OPHN1, CHMP1A, RELN
Specificity
6 %
Genes
100 %
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 %
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 SEPSECS Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SEPSECS
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.

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

CASK, TSEN34, RARS2, TSEN54, TSEN2, SEPSECS
Specificity
17 %
Genes
100 %
Neurogenetic Disorders - panels.

By MGZ Medical Genetics Center (Germany).

BCS1L, RTN2, RYR1, SACS, SCN1A, SCN1B, SCN2A, SCN8A, SCO1, SCO2, AIMP1, SDHA, SDHB, SDHC, SDHD, SGCE, SLC16A2, SLC17A5, SLC19A2, SLC1A3 , (...)

View the complete list with 572 more genes
Specificity
1 %
Genes
100 %

We have 14 more panels available in our App

Get the app

Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5; HHT5

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more