OBO ID: DOID:0112342
Term Name: hereditary spastic paraplegia 86 Search Ontology:
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 ABHD16A on chromosome 6p21.33. (2)
References:
Ontology: Human Disease   (DOID:0112342)
OTHER hereditary spastic paraplegia 86 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ABHD16A Spastic paraplegia 86, autosomal recessive 619735
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None