Traits

Traits linked to TIMM8A

translocase of inner mitochondrial membrane 8A

The Human Phenotype Ontology links 53 traits to TIMM8A, 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
Abnormal posturing	Always
Dystonia	Always
Increased reflexes	Always
Intellectual disability, mild	Always
Abnormal pyramidal sign	Often (30–79%)
Abnormality of somatosensory evoked potentials	Often (30–79%)
Absent brainstem auditory responses	Often (30–79%)
Babinski sign	Often (30–79%)
Behavioral abnormality	Often (30–79%)
Generalized brain degeneration	Often (30–79%)
Generalized dystonia	Often (30–79%)
Hyperactive deep tendon reflexes	Often (30–79%)
Mental deterioration	Often (30–79%)
Oromandibular dystonia	Often (30–79%)
Apraxia	Sometimes (5–29%)
Balance impairment	Sometimes (5–29%)
Caudate atrophy	Sometimes (5–29%)
Damage to nerves that sense feeling	Sometimes (5–29%)
Dementia	Sometimes (5–29%)
Focal dystonia	Sometimes (5–29%)
Inability to walk	Sometimes (5–29%)
Paranoia	Sometimes (5–29%)
Peripheral neuropathy	Sometimes (5–29%)
Personality changes	Sometimes (5–29%)
Shuffled walk	Sometimes (5–29%)
Tremor	Sometimes (5–29%)
Attention deficit	Rarely (1–4%)
Difficulty articulating speech	Not recorded

Abnormality of the eye

Trait	How often it is seen
Abnormality of visual evoked potentials	Often (30–79%)
Optic atrophy	Often (30–79%)
Visual impairment	Often (30–79%)
Abnormal color vision	Sometimes (5–29%)
Blind spot located at fixation point	Sometimes (5–29%)
Cerebral visual impairment	Sometimes (5–29%)
Extreme sensitivity of the eyes to light	Sometimes (5–29%)
Visual loss	Sometimes (5–29%)
Abnormal electroretinogram	Not recorded
Close sighted	Not recorded
Decreased clarity of vision	Not recorded
Limited peripheral vision	Not recorded

Abnormality of the ear

Trait	How often it is seen
Postlingual sensorineural hearing impairment	Always
Abnormal cochlea morphology	Often (30–79%)
Abnormal vestibular function	Often (30–79%)
Prelingual sensorineural hearing impairment	Often (30–79%)
Sensorineural hearing impairment	Often (30–79%)
Progressive sensorineural hearing impairment	Not recorded

Abnormality of limbs

Trait	How often it is seen
Intrinsic hand muscle atrophy	Always
Abnormal rhythmic movements of ankle	Often (30–79%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Increased susceptibility to fractures	Not recorded
Involuntary muscle stiffness, contraction, or spasm	Not recorded

Abnormal cellular phenotype

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

Abnormality of the digestive system

Trait	How often it is seen
Poor swallowing	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Aspiration pneumonia	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 TIMM8A and how often each is seen. Find out more at hpo.jax.org.

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