Term Name: | hereditary spastic paraplegia 86 |
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Synonyms: | spastic paraplegia 86 autosomal recessive, SPG86 |
Definition: | A hereditary spastic paraplegia characterized by early childhood onset of global developmental delay and early-onset progressive spasticity mainly affecting the lower limbs but also affecting the upper lmbs that has_material_basis_in homozygous or compound heterozygous mutation in the ABHD16A gene on chromosome 6p21.33. |
Ontology: | Human Disease [DOID:0112342] ( DOID:0112342 ) |