Autosomal dominant spastic paraplegia type 29
Name: |
Autosomal dominant spastic paraplegia type 29
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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.
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ORPHAcode: |
101009
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Synonyms: |
SPG29
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XREF(s): | |
Analyte(s): | |
Created: |
13 May 2019 - 01:02
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Changed: |
22 Jun 2023 - 16:14
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