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cerebellar hypoplasia
(phenotype)
Summary
General Info
Genetic Markers
Most Correlated Genes
Most Correlated SNPs
EXOSC9
CEP55
VLDLR
RARS2
PRDM13
No SNPs found
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Pathway Enrichment
Most Correlated Biogroups
RNA phosphodiester bond hydrolysis
nuclease activity
REACTOME_DIABETES_PATHWAYS
GSE32128_INOS_DEPENDENT_VS_INOS_INDEPENDENT_ACTIVATED_TCELL_DN
Flemming body
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Curated Studies
Most Correlated Studies
Neural progenitor cells (NPCs) derived from iPSCs of pontocerebellar hypoplasia (PCH) patients
OMIM - Cerebellofaciodental syndrome
OMIM - Intellectual disability
OMIM - Congenital cerebellar hypoplasia
OMIM - Epilepsy Related Disorders
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Literature
Most Relevant Literature
Undifferentiated psychosis or schizophrenia associated with vermis-predominant cerebellar hypoplasia…
Can a facial action coding system (CatFACS) be used to determine the welfare state of cats with cere…
A homozygous loss-of-function variant in BICD2 is associated with lissencephaly and cerebellar hypop…
Unilateral cerebellar hypoplasia in a 9-year-old child with chronic granulomatous disease: A case re…
Novel genes bearing mutations in rare cases of early-onset ataxia with cerebellar hypoplasia.
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Clinical Trials
Most Relevant Clinical Trials
Long-term Outcome of Newborns With an Isolated Small Cerebellum
Phenotypic and Genotypic Studies in Congenital and Early Onset Ataxias
Human Epilepsy Genetics--Neuronal Migration Disorders Study
Clinical and Molecular Investigations Into Ciliopathies
Assessment of the Prevalence of Genes AHI1, NPHP1 and CEP290 in Joubert Syndrome
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