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autosomal recessive spastic paraplegia type 67

^ http://purl.obolibrary.org/obo/MONDO_0018419

Autosomal recessive spastic paraplegia type 67 is an extremely rare, complex hereditary spastic paraplegia characterized by an infancy or childhood onset of global developmental delay and progressive spasticity with tremor in the distal limbs, increased deep tendon reflexes and extensor plantar responses, which may be associated with mild intellectual disability. Additional features include muscle wasting and cerebellar abnormalities. [ Orphanet:401820 ]

Term info

database cross reference
  • Orphanet:401820 (MONDO:equivalentTo)
  • SCTID:766767001 (MONDO:equivalentTo)
  • UMLS:CN226126 (MONDO:equivalentTo)
Subsets

ordo_disease

abbreviation
SPG67 [ Orphanet:401820 ]

definition

Autosomal recessive spastic paraplegia type 67 is an extremely rare, complex hereditary spastic paraplegia characterized by an infancy or childhood onset of global developmental delay and progressive spasticity with tremor in the distal limbs, increased deep tendon reflexes and extensor plantar responses, which may be associated with mild intellectual disability. Additional features include muscle wasting and cerebellar abnormalities.

exactMatch

http://linkedlifedata.com/resource/umls/id/CN226126, http://purl.obolibrary.org/obo/Orphanet_401820, http://identifiers.org/snomedct/766767001

id

MONDO:0018419