Traits

Traits linked to PMPCA

peptidase, mitochondrial processing subunit alpha

The Human Phenotype Ontology links 39 traits to PMPCA, 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
Delayed ability to walk	Always
Difficulty articulating speech	Always
Inability to coordinate movements when walking	Always
Lack of coordination of movement	Always
Ataxia	Very often (80–99%)
Delayed speech and language development	Very often (80–99%)
Global developmental delay	Very often (80–99%)
Intellectual disability	Very often (80–99%)
Brisk reflexes	Often (30–79%)
Cerebellar vermis atrophy	Often (30–79%)
Cognitive impairment	Often (30–79%)
Degeneration of cerebellum	Often (30–79%)
Diffuse cerebral atrophy	Often (30–79%)
Incoordination	Often (30–79%)
Increased reflexes	Often (30–79%)
Progressive psychomotor deterioration	Often (30–79%)
Decreased reflex response	Sometimes (5–29%)
Dilated fourth ventricle	Sometimes (5–29%)
Impaired visuospatial constructive cognition	Sometimes (5–29%)
Peripheral neuropathy	Sometimes (5–29%)
Tremor	Sometimes (5–29%)
Gliosis	Not recorded
Limb ataxia	Not recorded
Small cerebellum	Not recorded
Unsteady walk	Not recorded

Abnormality of the eye

Trait	How often it is seen
Gaze-evoked nystagmus	Always
Oculomotor apraxia	Often (30–79%)
Eye muscle paralysis	Sometimes (5–29%)
Involuntary, rapid, rhythmic eye movements	Sometimes (5–29%)
Saccadic smooth pursuit interruptions	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Often (30–79%)
Muscle weakness	Often (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Sometimes (5–29%)
Generalized decreased muscle tone	Not recorded

Abnormality of limbs

Trait	How often it is seen
Dropped arches	Often (30–79%)
High-arched foot	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Enlarged cisterna magna	Sometimes (5–29%)

Growth abnormality

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

Laboratory abnormality

Trait	How often it is seen
Increased lactate in body	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 PMPCA and how often each is seen. Find out more at hpo.jax.org.

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