Traits

Traits linked to CASP2

caspase 2

The Human Phenotype Ontology links 23 traits to CASP2, 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 speech and language development	Always
Fewer and broader ridges in brain	Always
Global developmental delay	Always
Increased reflexes	Always
Intellectual disability	Always
Loss of developmental milestones	Always
Aggressive behavior	Often (30–79%)
Attention deficit	Often (30–79%)
Autism spectrum disorder	Often (30–79%)
Epilepsy	Often (30–79%)
Too much cerebrospinal fluid in the brain	Often (30–79%)

Abnormality of head or neck

Trait	How often it is seen
Broad lateral eyebrow	Often (30–79%)
Dimple chin	Often (30–79%)
Monobrow	Often (30–79%)
Prominent nasal tip	Often (30–79%)
Thin red part of the upper lip	Often (30–79%)
Upward slanting of the opening between the eyelids	Often (30–79%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Involuntary muscle stiffness, contraction, or spasm	Often (30–79%)
Low muscle tone	Often (30–79%)
Muscle weakness	Often (30–79%)

Abnormality of the ear

Trait	How often it is seen
Ears rotated toward back of head	Often (30–79%)
Thin ear helix	Often (30–79%)

Abnormality of the eye

Trait	How often it is seen
Optic atrophy	Often (30–79%)

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 CASP2 and how often each is seen. Find out more at hpo.jax.org.

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