X-linked spastic paraplegia type 16

Disease Export to PDF
Name:
X-linked spastic paraplegia type 16
Description:
A complex, hereditary, spastic paraplegia characterized by delayed motor development, spasticity, and inability to walk, later progressing to quadriplegia, motor aphasia, bowel and bladder dysfunction. Patients also present with vision problems and mild intellectual disability. The disease affects only males.
ORPHAcode:
100997
Synonyms:
SPG16
XREF(s):
Analyte(s):
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14