Autosomal recessive spastic paraplegia type 24
General Information (adopted from Orphanet):
Synonyms, Signs: |
SPG24 |
Number of Symptoms | 7 |
OrphanetNr: | 101004 |
OMIM Id: |
607584
|
ICD-10: |
G11.4 |
UMLs: |
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MeSH: |
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MedDRA: |
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Snomed: |
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Prevalence, inheritance and age of onset:
Prevalence: | 1 family [Orphanet] |
Inheritance: |
Autosomal recessive [Orphanet] |
Age of onset: |
Infantile onset [Omim] |
Disease classification (adopted from Orphanet):
Parent Diseases: |
Autosomal recessive complex spastic paraplegia
-Rare genetic disease -Rare neurologic disease |
Symptom Information:
|
(HPO:0001347) | Hyperreflexia | 363 / 7739 | ||||
|
(HPO:0012407) | Scissor gait | 6 / 7739 | ||||
|
(HPO:0002169) | Clonus | 37 / 7739 | ||||
|
(HPO:0001257) | Spasticity | 251 / 7739 | ||||
|
(HPO:0001258) | Spastic paraplegia | 97 / 7739 | ||||
|
(HPO:0003698) | Difficulty standing | 8 / 7739 | ||||
|
(HPO:0030051) | Tip-toe gait | 10 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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