Pontocerebellar Hypoplasia, Type 2f; Pch2f
Description
Pontocerebellar hypoplasia type 2F is an autosomal recessive neurodevelopmental disorder characterized by progressive microcephaly and variable neurologic signs and symptoms, including cognitive and motor delay, poor or absent speech, seizures, and spasticity (summary by Breuss et al., 2016).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 2f; Pch2f
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Microcephaly
- Strabismus
- Spasticity
- Visual impairment
- Motor delay
- Hyperreflexia
And another 7 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 2f; Pch2f Recommended genes panels
| Panel Name, Specifity and genes Tested/covered |
|---|
 Pontocerebellar Hypoplasia via TSEN15 Gene Sequencing with CNV Detection.
By PreventionGenetics PreventionGenetics (United States).
TSEN15
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 % |
|
TSEN15.
By Fulgent Genetics Fulgent Genetics (United States).
TSEN15
Specificity
100 %
Genes
100 % |
You can get up to -5 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 MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC; CMS20 MUCOPOLYSACCHARIDOSIS, TYPE IVB; MPS4B DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY STUVE-WIEDEMANN SYNDROME EHLERS-DANLOS SYNDROME WITH PERIVENTRICULAR HETEROTOPIA SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME; SFM ACUTE PROMYELOCYTIC LEUKEMIA; APL