Autosomal recessive spastic paraplegia type 69

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Name:
Autosomal recessive spastic paraplegia type 69
Description:
A rare, complex hereditary spastic paraplegia disorder characterized by infantile onset of progressive lower limb spasticity, global developmental delay, hyperreflexia, clonus and extensor plantar reflexes, associated with dysarthria, intellectual disability, cataracts and hearing impairment.
ORPHAcode:
401830
Synonyms:
SPG69
XREF(s):
Analyte(s):
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14