Term Name: | pontocerebellar hypoplasia type 8 |
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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. |
Ontology: | Human Disease [DOID:0060277] ( DOID:0060277 ) |