Pontocerebellar Hypoplasia, Type 11; Pch11

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

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 ).

Genes related to Pontocerebellar Hypoplasia, Type 11; Pch11

TBC1D23

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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.

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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 11; Pch11 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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 Panel complete gene list BDNF, RPS6KA3, SCN2A, SCN8A, SLC16A2, SLC2A1, SLC6A8, SLC9A6, SMC1A, KDM5C, STXBP1, TBR1, TCF4, TSPAN7, TRIO, UBA7, UBE2A, ZNF711, BCL11A, FTSJ1, VPS35, CNTNAP2, FMN2, CIC, NLGN4X, SHANK3, ARHGEF9, DEAF1, CAPS, SNX14, SETBP1, ADNP, PIDD1, RAB39B, ZBTB11, BRWD3, CDH15, ARID1B, ARX, ELP2, ZDHHC9, NAA10, CHD2, SDK2, SIN3A, USP44, CLCN4, SUMF2, UPF3B, MBD5, ZC3H14, MED13L, TRAPPC6B, KIRREL3, SPATA13, MED23, ABI2, CTNNB1, CUL4B, SETD5, TBC1D23, SLAIN1, PTCHD1, METTL23, DDX3X, MED25, DLG3, IQSEC2, WASHC4, TBC1D24, DMBT1, TET1, DCPS, CRBN, CC2D1A, TUSC3, GATAD2B, TRAPPC9, HUWE1, FBXO47, EXTL3, ACSL4, FGD1, AFF2, FOXG1, GDI1, ADGRG2, GRIA3, GRIN1, GRIN2B, HIVEP2, SYNRG, AP1S2, IL1RAPL1, AFF3, LAMC1, MAGEA11, MAN1B1, MAP3K7, MAPK8, MECP2, MEF2C, MPDZ, MYT1L, NDST1, OPHN1, PAK3, ATRX, PQBP1, PRSS12 Specificity 1 % Genes 100 %
TBC1D23. By Fulgent Genetics Fulgent Genetics (United States). TBC1D23 Specificity 100 % Genes 100 %

Panel Name, Specifity and genes Tested/covered

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

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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