Traits

Traits linked to SNAPC4

small nuclear RNA activating complex polypeptide 4

The Human Phenotype Ontology links 13 traits to SNAPC4, 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
Cognitive regression	Always
Motor regression	Always
Difficulty articulating speech	Very often (80–99%)
Increased reflexes	Very often (80–99%)
Degeneration of cerebellum	Often (30–79%)
Degeneration of cerebrum	Often (30–79%)
Dystonia	Often (30–79%)

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Very often (80–99%)
Drooling	Often (30–79%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Involuntary muscle stiffness, contraction, or spasm	Always
Spastic tetraparesis	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Short stature	Always

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 SNAPC4 and how often each is seen. Find out more at hpo.jax.org.

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