Pontocerebellar Hypoplasia, Type 2b; Pch2b
Description
Pontocerebellar hypoplasia (PCH) represents a heterogeneous group of disorders characterized by an abnormally small cerebellum and brainstem. PCH type 2 is characterized by progressive microcephaly from birth combined with extrapyramidal dyskinesia and chorea, epilepsy, and normal spinal cord findings (Barth, 1993).For a 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 2b; Pch2b
- Seizures
- Generalized hypotonia
- Microcephaly
- Spasticity
- Feeding difficulties
- Visual impairment
- Ventriculomegaly
- Hypoplasia of the corpus callosum
- Cerebellar atrophy
- Hypertonia
And another 19 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 2b; Pch2b Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
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![]() By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
SCN1A, SCN1B, SCN2A, SCN5A, SCN8A, SCN9A, SHH, ST3GAL3, ST3GAL5, STIL, SIX3, SLC2A1, SLC35A2, SLC9A6, SNAP25, SPTAN1, CDKL5, STXBP1, SYN1, SYNGAP1 , (...)
View the complete list with 124 more genes
Specificity
1 %
Genes
100 % |
![]() By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).
SHH, STIL, SIX3, SLC9A6, SOX2, CDKL5, TGIF1, MED12, CEP41, TUBA8, UBE3A, VLDLR, VRK1, ZIC2, ACTB, MRPS16, NSD1, RAB18, ACTG1, SLC25A19 , (...)
View the complete list with 86 more genes
Specificity
1 %
Genes
100 % |
![]() By Genetic Services Laboratory University of Chicago (United States).
TSEN2
Specificity
100 %
Genes
100 % |
![]() By Genetic Services Laboratory University of Chicago (United States).
TSEN34, TSEN2
Specificity
50 %
Genes
100 % |
![]() 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 % |
![]() By Genetic Services Laboratory University of Chicago (United States).
STIL, SLC2A1, SLC9A6, PLK4, CDKL5, TCF4, UBE3A, WWOX, RAB18, CRIPT, SLC25A19, ZEB2, CASK, TSEN34, ZNF335, ARFGEF2, PCNT, TBC1D20, TUBGCP4, STAMBP , (...)
View the complete list with 50 more genes
Specificity
2 %
Genes
100 % |
![]() 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 % |
![]() By Genetic Services Laboratory University of Chicago (United States).
STIL, SLC1A4, SLC2A1, SLC9A6, SOX11, PLK4, CDKL5, TCF4, UBE3A, USP18, WWOX, RAB18, CRIPT, SLC25A19, ZEB2, NIN, PPP1R15B, CASK, TSEN34, ZNF335 , (...)
View the complete list with 59 more genes
Specificity
2 %
Genes
100 % |
You can get up to 29 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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