Traits

Traits linked to C19orf12

chromosome 19 open reading frame 12

The Human Phenotype Ontology links 41 traits to C19orf12, 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 gait	Always
Loss of ability to walk	Always
Peripheral neuropathy	Always
Abnormal pyramidal sign	Often (30–79%)
Babinski sign	Often (30–79%)
Decreased reflex response	Often (30–79%)
Decreased sensation in extremities	Often (30–79%)
Difficulty articulating speech	Often (30–79%)
Generalized dystonia	Often (30–79%)
Motor axonal neuropathy	Often (30–79%)
Oromandibular dystonia	Often (30–79%)
Parkinsonism	Often (30–79%)
Degeneration of cerebellum	Sometimes (5–29%)
Global developmental delay	Sometimes (5–29%)
Eye of the tiger anomaly of globus pallidus	Rarely (1–4%)
Abnormal lower motor neuron morphology	Not recorded
Abnormality of extrapyramidal motor function	Not recorded
Ataxia	Not recorded
Can't control feelings	Not recorded
Delayed speech and language development	Not recorded
Dementia	Not recorded
Depression	Not recorded
Dystonia	Not recorded
Impulsivity	Not recorded
Increased reflexes	Not recorded
Lewy bodies	Not recorded
Mental deterioration	Not recorded
Ongoing loss of nerve cells	Not recorded
Tremor	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Involuntary muscle stiffness, contraction, or spasm	Always
Muscle weakness	Always
Distal muscle wasting	Often (30–79%)
Spastic paraplegia	Not recorded
Weakness of outermost muscles	Not recorded

Abnormality of limbs

Trait	How often it is seen
Ankle flexion contracture	Not recorded
High-arched foot	Not recorded
Inability to straighten knee	Not recorded
Winged shoulder blade	Not recorded

Abnormality of the eye

Trait	How often it is seen
Optic atrophy	Very often (80–99%)
Progressive loss of vision	Not recorded

Laboratory abnormality

Trait	How often it is seen
Elevated blood creatine phosphokinase	Not recorded

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 C19orf12 and how often each is seen. Find out more at hpo.jax.org.

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