Statements (82)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:genetic_disorder
gptkb:hereditary_spastic_paraplegia |
| gptkbp:containsGene |
SPG1
|
| gptkbp:firstDescribed |
1880
|
| gptkbp:hasOrphanetID |
ORPHA:100980
|
| gptkbp:hasUMLSID |
C1854302
|
| gptkbp:inheritance |
X-linked dominant
|
| gptkbp:MeSH_ID |
D020777
|
| gptkbp:OMIM |
182600
|
| gptkbp:symptom |
gptkb:intellectual_disability
gptkb:spastic_diplegia gptkb:Babinski_sign gptkb:visual_impairment epilepsy nystagmus muscle stiffness tremor muscle pain muscle atrophy muscle twitching muscle weakness spasticity bladder dysfunction cognitive impairment scoliosis hearing loss paraplegia seizures ataxia developmental delay muscle cramps gait disturbance quadriplegia learning difficulties muscle fatigue dysphagia urinary incontinence muscle wasting muscle rigidity urinary urgency contractures hemiplegia speech difficulties dysarthria muscle hypotonia hyperreflexia spastic gait muscle hypertrophy lower limb spasticity lower limb weakness mild sensory loss progressive spasticity of lower limbs weakness of lower limbs muscle spasm foot deformities pyramidal signs dysmetria mild intellectual disability optic atrophy dysphonia tetraplegia muscle fasciculations ataxic gait clonus diplegia dysdiadochokinesia monoplegia muscle contracture muscle flaccidity muscle hypertonia pes cavus spastic hemiparesis spastic monoplegia spastic paraparesis spastic quadriparesis spastic tetraparesis spastic triplegia triplegia upper motor neuron signs |
| gptkbp:bfsParent |
gptkb:L1CAM
|
| gptkbp:bfsLayer |
7
|
| https://www.w3.org/2000/01/rdf-schema#label |
spastic paraplegia type 1
|