Search Ontology:
Human Disease

pontocerebellar hypoplasia type 8

Term ID
DOID:0060277
Synonyms
Definition
A pontocerebellar hypoplasia that is characterized by delayed psychomotor development, chorea, hypotonia, spasticity and visual defects, has_material_basis_in autosomal recessive inheritance of mutation in the CHMP1A gene. https://pubmed.ncbi.nlm.nih.gov/23023333/
References
Ontology
Human Disease   ( DOID:0060277 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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