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Human Disease

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
Ontology
Human Disease   ( DOID:0112342 )
Relationships
is a type of
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Genes Involved
Zebrafish Models