Phenotypes associated with the disease spastic ataxia 4 (OMIM:613672):
- Delayed speech and language development (HP:0000750): A degree of language development that is significantly below the norm for a child of a specified age. Evidence: PCS. Frequency: 1/6. (PMID:20970105)
- 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: PCS. Frequency: 5/6. (PMID:20970105)
- Delayed ability to walk (HP:0031936): A failure to achieve the ability to walk at an appropriate developmental stage. Most children learn to walk in a series of stages, and learn to walk short distances independently between 12 and 15 months. Evidence: PCS. Frequency: 1/6. (PMID:20970105)
- Spastic ataxia (HP:0002497). Evidence: PCS. (PMID:20970105)
- Dysarthria (HP:0001260): Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed. Evidence: PCS. Frequency: 6/6. (PMID:20970105)
- Gait ataxia (HP:0002066): A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall. Evidence: PCS. Frequency: 6/6. (PMID:20970105)
- Upper limb hypertonia (HP:0200049): Increased muscle tone observed in the arms of the affected person. Evidence: PCS. Frequency: 2/6. (PMID:20970105)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 6/6. (PMID:20970105)
- Limb ataxia (HP:0002070): A kind of ataxia that affects movements of the extremities. Evidence: PCS. Frequency: 4/6. (PMID:20970105)
- Decreased Achilles reflex (HP:0009072): Decreased intensity of the Achilles reflex (also known as the ankle jerk reflex), which can be elicited by tapping the tendon is tapped while the foot is dorsiflexed. Evidence: PCS. Frequency: 4/6. (PMID:20970105)
- Hyperactive patellar reflex (HP:0007083). Evidence: PCS. Frequency: 5/6. (PMID:20970105)
- Nystagmus (HP:0000639): Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms. Evidence: PCS. Frequency: 2/6. (PMID:20970105)
- Emotional lability (HP:0000712): Unstable emotional experiences and frequent mood changes; emotions that are easily aroused, intense, and/or disproportionate to events and circumstances. Evidence: PCS. Frequency: 4/6. (PMID:20970105)
- Autosomal recessive inheritance (HP:0000007): 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:20970105)
- Optic atrophy (HP:0000648): Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy. Evidence: PCS. Frequency: 4/4. (PMID:20970105)
- Lower limb hypertonia (HP:0006895). Evidence: PCS. Frequency: 4/6. (PMID:20970105)
- Slowly progressive (HP:0003677): Applies to a disease manifestation that only slowly increases in scope or severity over the course of time. Evidence: PCS. (PMID:20970105)
- Spastic paraparesis (HP:0002313): Partial loss of the ability to move the lower limbs accompanied by spasticity of the lower limbs. Evidence: PCS. (PMID:20970105)