Autosomal recessive spastic paraplegia type 27

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Name:
Autosomal recessive spastic paraplegia type 27
Description:
Autosomal recessive spastic paraplegia type 27 is a rare, pure or complex hereditary spastic paraplegia characterized by a variable onset of slowly progressive lower limb spasticity, hyperreflexia and extensor plantar responses, that may be associated with sensorimotor polyneuropathy, decreased vibration sense, lower limb distal muscle wasting, dysarthria and mild to moderate intellectual disability.
ORPHAcode:
101007
Synonyms:
SPG27
XREF(s):
Analyte(s):
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14