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autosomal recessive spastic paraplegia type 70

^ http://purl.obolibrary.org/obo/MONDO_0018422


Autosomal recessive spastic paraplegia type 70 is a very rare, complex subtype of hereditary spastic paraplegia that presents in infancy with delayed motor development (i.e. crawling, walking) and is characterized by lower limb spasticity, increased deep tendon reflexes, extensor plantar responses, impaired vibratory sensation at ankles, amyotrophy and borderline intellectual disability. Additional signs may include gait disturbances, Achilles tendon contractures, scoliosis and cerebellar abnormalities. [ Orphanet:401835 ]

Term info

database cross reference
  • UMLS:CN226129 (MONDO:equivalentTo)
  • Orphanet:401835 (MONDO:equivalentTo)
Subsets

ordo_disease

abbreviation
SPG70 [ Orphanet:401835 ]

definition

Autosomal recessive spastic paraplegia type 70 is a very rare, complex subtype of hereditary spastic paraplegia that presents in infancy with delayed motor development (i.e. crawling, walking) and is characterized by lower limb spasticity, increased deep tendon reflexes, extensor plantar responses, impaired vibratory sensation at ankles, amyotrophy and borderline intellectual disability. Additional signs may include gait disturbances, Achilles tendon contractures, scoliosis and cerebellar abnormalities.

exactMatch

http://linkedlifedata.com/resource/umls/id/CN226129, http://purl.obolibrary.org/obo/Orphanet_401835

id

MONDO:0018422