Traits

Traits linked to LRRC32

leucine rich repeat containing 32

The Human Phenotype Ontology links 20 traits to LRRC32, 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
Delayed speech and language development	Always
Global developmental delay	Always
Pauses in breathing while sleeping	Always
Ventriculomegaly	Always
Cavum septum pellucidum	Often (30–79%)
Cerebellar vermis hypoplasia	Often (30–79%)
Partial agenesis of the corpus callosum	Often (30–79%)

Abnormality of head or neck

Trait	How often it is seen
Cleft palate	Always
Little lower jaw	Often (30–79%)
Midface retrusion	Often (30–79%)
Short philtrum	Often (30–79%)

Abnormality of the eye

Trait	How often it is seen
Close sighted	Always
Cross-eyed	Often (30–79%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Generalized decreased muscle tone	Always
Low muscle tone in trunk	Often (30–79%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Retinal neovascularization	Always

Abnormality of the ear

Trait	How often it is seen
Hearing impairment	Often (30–79%)

Abnormality of the immune system

Trait	How often it is seen
Baby eczema	Always

Growth abnormality

Trait	How often it is seen
Prenatal growth deficiency	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 LRRC32 and how often each is seen. Find out more at hpo.jax.org.

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