Phenotypes associated with the disease hereditary spastic paraplegia 3A (OMIM:182600):
- Insidious onset (HP:0003587): Gradual, very slow onset of disease manifestations. Evidence: IEA. (OMIM:182600)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. (PMID:12112092)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: IEA. (OMIM:182600)
- Mild intellectual disability (HP:0001256): Mild intellectual disability (ID) is defined as a type of ID characterized by mildly sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 50-69. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:182600)
- Impaired vibration sensation in the lower limbs (HP:0002166): A decrease in the ability to perceive vibration in the legs. Evidence: IEA. (OMIM:182600)
- Urinary urgency (HP:0000012): Urge incontinence is the strong, sudden need to urinate. Evidence: IEA. (OMIM:182600)
- Pes cavus (HP:0001761): An increase in height of the medial longitudinal arch of the foot that does not flatten on weight bearing (i.e., a distinctly hollow form of the sole of the foot when it is bearing weight). Evidence: IEA. (OMIM:182600)
- Hypoplasia of the corpus callosum (HP:0002079): Underdevelopment of the corpus callosum. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:182600)
- Babinski sign (HP:0003487): Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract. Evidence: IEA. (OMIM:182600)
- Urinary incontinence (HP:0000020): Loss of the ability to control the urinary bladder leading to involuntary urination. Evidence: IEA. (OMIM:182600)
- Spastic gait (HP:0002064): Spasticity is manifested by increased stretch reflex which is intensified with movement velocity. This results in excessive and inappropriate muscle activation which can contribute to muscle hypertonia. Spastic gait is characterized by manifestations such as muscle hypertonia, stiff knee, and circumduction of the leg. Evidence: IEA. (OMIM:182600)
- Lower limb spasticity (HP:0002061): Spasticity (velocity-dependent increase in tonic stretch reflexes with increased muscle tone and hyperexcitable tendon reflexes) in the muscles of the lower limbs, hips, and pelvis. Evidence: IEA. (OMIM:182600)
- Motor delay (HP:0001270): A type of Developmental delay characterized by a delay in acquiring motor skills. Evidence: IEA. (OMIM:182600)
- Paraplegia (HP:0010550): Severe or complete weakness of both lower extremities with sparing of the upper extremities. Evidence: TAS. (OMIM:182600)
- Lower limb muscle weakness (HP:0007340): Weakness of the muscles of the legs. Evidence: PCS. Frequency: 11/11. (PMID:12112092)
- Variable expressivity (HP:0003828): A variable severity of phenotypic features. Evidence: IEA. (OMIM:182600)
- Urinary bladder sphincter dysfunction (HP:0002839): Abnormal function of a sphincter of the urinary bladder. Evidence: IEA. (OMIM:182600)
- Typified by incomplete penetrance (HP:0003829): Description of conditions in which not all individuals with a given genotype exhibit the disease. Penetrance is the proportion that develop disease given a lifespan of 80 years. Evidence: IEA. (OMIM:182600)
- Spastic paraplegia (HP:0001258): Complete loss of the ability to move the lower limbs accompanied by spasticity of the lower limbs. Evidence: IEA. (OMIM:182600)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:11685207)
- Hyperreflexia (HP:0001347): Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles. Evidence: IEA. (OMIM:182600)
- Distal lower limb amyotrophy (HP:0008944): Muscular atrophy of distal leg muscles. Evidence: IEA. (OMIM:182600)
- Degeneration of the lateral corticospinal tracts (HP:0002314): Deterioration of the tissues of the lateral corticospinal tracts. Evidence: IEA. (OMIM:182600)