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Traits
Traits linked to ARHGAP19
Rho GTPase activating protein 19
The Human Phenotype Ontology links 46 traits to ARHGAP19, by body system: features seen in people with one of the gene's rare conditions.
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Abnormality of the nervous system
| Trait | How often it is seen |
|---|---|
| Abnormal gait | Always |
| Decreased motor nerve conduction velocity | Always |
| Demyelinating motor neuropathy | Always |
| Falls | Always |
| Fluid-filled cyst in spinal cord | Always |
| Impaired distal proprioception | Always |
| Impaired distal vibration sensation | Always |
| Impaired temperature sensation | Always |
| Impaired toe-walking ability | Always |
| Mixed demyelinating and axonal polyneuropathy | Always |
| Motor axonal neuropathy | Always |
| Motor polyneuropathy | Always |
| Nerve damage causing decreased feeling and movement | Always |
| Peripheral axonal neuropathy | Always |
| Peripheral nerve disease | Always |
| High stepping | Very often (80–99%) |
| Babinski sign | Often (30–79%) |
| Decreased touch sensation in extremities | Often (30–79%) |
| Impaired vibratory sensation | Often (30–79%) |
| Waddling gait | Often (30–79%) |
Abnormality of limbs
| Trait | How often it is seen |
|---|---|
| Absent ankle reflexes | Always |
| Absent knee jerk reflex | Always |
| Calf muscle pseudohypertrophy | Always |
| Decreased arm strength | Always |
| Distal lower limb muscle weakness | Always |
| Distal upper limb muscle weakness | Always |
| Foot drop | Always |
| Hand muscle weakness | Always |
| Lower limb muscle weakness | Always |
| Weakness of the intrinsic hand muscles | Always |
| Areflexia of lower limbs | Often (30–79%) |
| Dropped arches | Often (30–79%) |
| High-arched foot | Often (30–79%) |
| Increased size of calf muscles | Often (30–79%) |
| Distal upper limb amyotrophy | Sometimes (5–29%) |
| Hammertoe | Sometimes (5–29%) |
Abnormality of the musculoskeletal system
| Trait | How often it is seen |
|---|---|
| Fatty replacement of skeletal muscle | Always |
| Frequent falls | Always |
| Muscle spasm | Always |
| Weakness of outermost muscles | Always |
| Distal lower limb amyotrophy | Very often (80–99%) |
| Scoliosis | Often (30–79%) |
Laboratory abnormality
| Trait | How often it is seen |
|---|---|
| Increased CSF protein concentration | Always |
| Mildly elevated creatine kinase | Always |
Abnormality of the cardiovascular system
| Trait | How often it is seen |
|---|---|
| Mitral regurgitation | Always |
Constitutional symptom
| Trait | How often it is seen |
|---|---|
| Lack of energy and strength | Often (30–79%) |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to ARHGAP19 and how often each is seen. Find out more at hpo.jax.org.
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