Traits

Traits linked to FLVCR2

FLVCR choline and putative heme transporter 2

The Human Phenotype Ontology links 22 traits to FLVCR2, 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
Ventriculomegaly	Always
Hydranencephaly	Often (30–79%)
Too much cerebrospinal fluid in the brain	Often (30–79%)
More grooves in brain	Sometimes (5–29%)
Small brainstem	Sometimes (5–29%)
Agenesis of corpus callosum	Not recorded
Akinesia	Not recorded
Epilepsy	Not recorded
Global developmental delay	Not recorded
Small cerebellum	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Cleft palate	Sometimes (5–29%)
Cystic hygroma	Sometimes (5–29%)
Abnormally small head	Not recorded
Dandy-Walker malformation	Not recorded
Little lower jaw	Not recorded

Abnormality of prenatal development or birth

Trait	How often it is seen
High levels of amniotic fluid	Not recorded
Premature birth	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Joint contracture	Very often (80–99%)
Poorly developed skeletal musculature	Sometimes (5–29%)

Abnormality of limbs

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

Abnormality of the integument

Trait	How often it is seen
Pterygium	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Prenatal growth deficiency	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 FLVCR2 and how often each is seen. Find out more at hpo.jax.org.

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