Pontocerebellar Hypoplasia, Type 11; Pch11
Description
PCH11 is an autosomal recessive neurodevelopmental disorder characterized by severely delayed psychomotor development with intellectual disability and poor speech, microcephaly, dysmorphic features, and pontocerebellar hypoplasia on brain imaging. Additional features are more variable (summary by Marin-Valencia et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1 (OMIM ).
Clinical Features
Top most frequent phenotypes and symptoms related to Pontocerebellar Hypoplasia, Type 11; Pch11
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Microcephaly
- Ataxia
- Strabismus
- Spasticity
- Delayed speech and language development
- Dysarthria
And another 34 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 11; Pch11 Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
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Non-syndromic Intellectual Disability (NS-ID) Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics (United States).
BDNF, RPS6KA3, SCN2A, SCN8A, SLC16A2, SLC2A1, SLC6A8, SLC9A6, SMC1A, KDM5C, STXBP1, TBR1, TCF4, TSPAN7, TRIO, UBA7, UBE2A, ZNF711, BCL11A, FTSJ1 , (...)
View the complete list with 90 more genes
Specificity
1 %
Genes
100 % |
TBC1D23.
By Fulgent Genetics Fulgent Genetics (United States).
TBC1D23
Specificity
100 %
Genes
100 % |
You can get up to -6 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
OMIM Genetic Syndrome FinderIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like PERRAULT SYNDROME 3; PRLTS3 HYPOKALEMIC PERIODIC PARALYSIS FAMILIAL VISCERAL MYOPATHY COMBINED MALONIC AND METHYLMALONIC ACIDURIA; CMAMMA CLASSIC PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION HOLOCARBOXYLASE SYNTHETASE DEFICIENCY EWING SARCOMA; ES