hereditary spastic paraplegia 86

Term ID

DOID:0112342

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. (2)

References

• OMIM:619735

Ontology

Human Disease   ( DOID:0112342 )