Autosomal dominant spastic paraplegia type 29

Disease Export to PDF
Name:
Autosomal dominant spastic paraplegia type 29
Description:
A complex form of hereditary spastic paraplegia characterized by a spastic paraplegia presenting in adolescence, associated with the additional manifestations of sensorial hearing impairment due to auditory neuropathy and persistent vomiting due to a hiatal or paraesophageal hernia.
ORPHAcode:
101009
Synonyms:
SPG29
XREF(s):
Analyte(s):
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14