Traits

Traits linked to SH3TC2

SH3 domain and tetratricopeptide repeats 2

The Human Phenotype Ontology links 69 traits to SH3TC2, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	How often it is seen
Constrictive median neuropathy	Always
Decreased sensation in extremities	Always
Abnormal gait	Very often (80–99%)
Decreased motor nerve conduction velocity	Very often (80–99%)
Decreased number of peripheral myelinated nerve fibers	Very often (80–99%)
Demyelinating peripheral neuropathy	Very often (80–99%)
Nerve damage causing decreased feeling and movement	Very often (80–99%)
Absent reflexes	Often (30–79%)
Impaired distal vibration sensation	Often (30–79%)
Inability to coordinate movements when walking	Often (30–79%)
Peripheral axonal neuropathy	Often (30–79%)
Degeneration of cerebellum	Sometimes (5–29%)
Difficulty articulating speech	Sometimes (5–29%)
Greater auricular nerve thickening	Sometimes (5–29%)
Head tremor	Sometimes (5–29%)
Impaired pain sensation	Sometimes (5–29%)
Inability to walk	Sometimes (5–29%)
Positive Romberg sign	Sometimes (5–29%)
Sensory ataxia	Sometimes (5–29%)
Weakness of the vocal cords	Sometimes (5–29%)
Trigeminal neuralgia	Rarely (1–4%)
Abnormal cranial nerve morphology	Not recorded
Axonal degeneration	Not recorded
Basal lamina onion bulb formation	Not recorded
Decreased number of large peripheral myelinated nerve fibers	Not recorded
Delayed brainstem auditory evoked response conduction time	Not recorded
Motor delay	Not recorded
Peripheral axonal degeneration	Not recorded
Segmental peripheral demyelination	Not recorded
Single damaged nerve	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Weakness of outermost muscles	Always
Distal muscle wasting	Very often (80–99%)
EMG: chronic denervation signs	Very often (80–99%)
Functional motor deficit	Very often (80–99%)
Frequent falls	Often (30–79%)
Muscle spasm	Often (30–79%)
Neuropathic spinal arthropathy	Often (30–79%)
Proximal neurogenic muscle weakness	Often (30–79%)
Scoliosis	Often (30–79%)
Abnormal formation of the hip	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Abnormal feet structure	Very often (80–99%)
Foot drop	Often (30–79%)
Hammertoe	Often (30–79%)
High-arched foot	Often (30–79%)
Club feet	Sometimes (5–29%)
Dropped arches	Sometimes (5–29%)
Pes valgus	Rarely (1–4%)
Decreased arm strength	Not recorded

Abnormality of the eye

Trait	How often it is seen
Abnormal pupillary light reflex	Sometimes (5–29%)
Asymmetric pupil sizes	Sometimes (5–29%)
Cross-eyed	Sometimes (5–29%)
Double vision	Sometimes (5–29%)
Involuntary, rapid, rhythmic eye movements	Sometimes (5–29%)
Optic nerve issue	Sometimes (5–29%)
Loss of peripheral vision	Rarely (1–4%)
Optic atrophy	Rarely (1–4%)

Abnormality of head or neck

Trait	How often it is seen
Tongue twitching	Often (30–79%)
Drooling	Sometimes (5–29%)
Facial paralysis	Sometimes (5–29%)
Tongue muscle weakness	Sometimes (5–29%)
Wasting of the tongue	Sometimes (5–29%)
Weakness of facial musculature	Sometimes (5–29%)
Bell's palsy	Not recorded

Abnormality of the ear

Trait	How often it is seen
Hearing impairment	Sometimes (5–29%)
Sensorineural hearing impairment	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Respiratory function loss	Sometimes (5–29%)
Slow breathing	Sometimes (5–29%)

Constitutional symptom

Trait	How often it is seen
Muscle ache	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Faltering weight	Sometimes (5–29%)

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 SH3TC2 and how often each is seen. Find out more at hpo.jax.org.

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