Term Name: hereditary spastic paraplegia 47
Synonyms: autosomal recessive spastic paraplegia 47, CPSQ5, spastic quadriplegic cerebral palsy 5, SPG47
Definition: A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4B1 gene on chromosome 1p13.
Ontology: Human Disease [DOID:0110799]   ( DOID:0110799 )

Relationships
is a type of: autosomal recessive disease hereditary spastic paraplegia