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.
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
Learn moreSources and references
You can check the following sources for additional information.
OMIM Rare Disease Symptoms CheckerIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like FOCAL CORTICAL DYSPLASIA, TYPE II; FCORD2 JACKSON-WEISS SYNDROME; JWS NEURODEGENERATION DUE TO CEREBRAL FOLATE TRANSPORT DEFICIENCY SYNDROMIC RECESSIVE X-LINKED ICHTHYOSIS FOLLICULAR LYMPHOMA RETINAL DYSTROPHY WITH OR WITHOUT MACULAR STAPHYLOMA; RDMS