X-linked complicated spastic paraplegia type 1
General Information (adopted from Orphanet):
|
Synonyms, Signs:
|
SPG1
|
|
Number of Symptoms
|
6
|
|
OrphanetNr:
|
306617
|
|
OMIM Id:
|
|
|
ICD-10:
|
|
|
UMLs:
|
|
|
MeSH:
|
|
|
MedDRA:
|
|
|
Snomed:
|
|
Prevalence, inheritance and age of onset:
|
Prevalence:
|
No data available.
|
|
Inheritance:
|
X-linked
24954637 [IBIS]
|
|
Age of onset:
|
|
Disease classification (adopted from Orphanet):
|
Parent Diseases:
|
L1 syndrome
-Rare developmental defect during embryogenesis
-Rare genetic disease
-Rare neurologic disease
|
Comment:
| L1 syndrome is a mild to severe congenital X-linked developmental disorder characterized by hydrocephalus of varying degrees of severity, intellectual deficit, spasticity of the legs, and adducted thumbs. The syndrome represents a spectrum of disorders including: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS), MASA syndrome, X-linked complicated hereditary spastic paraplegia type 1, and X-linked complicated corpus callosum agenesis (Orphanet, Dec 2016). |
ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |