Traits

Traits linked to ACER3

alkaline ceramidase 3

The Human Phenotype Ontology links 23 traits to ACER3, 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
Absent reflexes	Always
Degeneration of cerebrum	Always
Developmental stagnation	Always
Dystonia	Always
Intellectual disability, severe	Always
Leukodystrophy	Always
Loss of developmental milestones	Always
Peripheral neuropathy	Always
Underdevelopment of part of brain called corpus callosum	Always

Abnormality of head or neck

Trait	How often it is seen
Coarse facial features	Always
Full lower lip	Always
Prominent nose	Always
Relatively large head	Always
Sloping forehead	Always
Smooth philtrum	Always
Thick eyebrow	Always

Abnormality of the musculoskeletal system

Trait	How often it is seen
Appendicular spasticity	Always
Joint contracture	Always
Low muscle tone in trunk	Always

Abnormality of the ear

Trait	How often it is seen
Low-set ears	Always

Abnormality of the eye

Trait	How often it is seen
Optic disc pallor	Always

Abnormality of the genitourinary system

Trait	How often it is seen
Lack of bladder control due to nervous system injury	Always

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 ACER3 and how often each is seen. Find out more at hpo.jax.org.

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