Pontocerebellar hypoplasia
cv_term_accession
KW-1021
canonical
uniprot_keyword
KW-1021
canonical
name
Pontocerebellar hypoplasia
uniprot
synonym
PCH
uniprot
synonym
Pontocerebellar atrophy
uniprot
definition
Protein which, if defective, causes pontocerebellar hypoplasia, a heterogeneous group of congenital disorders characterized by hypoplasia and atrophy of the cerebellar cortex, dentate nuclei, pontine nuclei and inferior olives. Additional defects of other brain and spinal cord structures can be present, resulting in clinical manifestations that vary among cases.
uniprot
keywords
is_obsolete
false
uniprot
keywords
ontology_id
uniprot_keywords
uniprot
keywords