Human genes for hereditary spastic paraplegia 47
Hereditary spastic paraplegia 47 [DOID:0110799]
A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4B1 gene on chromosome 1p13.
Synonyms: hereditary spastic paraplegia 47, DOID:0110799, familial spastic paraplegia 47, autosomal recessive spastic paraplegia 47, CPSQ5 ...