Traits

Traits linked to FRMD4A

FERM domain containing 4A

The Human Phenotype Ontology links 33 traits to FRMD4A, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Often (30–79%)
Full lower lip	Often (30–79%)
Fullness of eyelids	Often (30–79%)
Highly arched eyebrow	Often (30–79%)
Long eyelashes	Often (30–79%)
Low frontal hairline	Often (30–79%)
Narrow forehead	Often (30–79%)
Nasal tip, upturned	Often (30–79%)
Small head present at birth	Often (30–79%)
Thick eyebrow	Often (30–79%)
Drooping lower lip	Not recorded
Fullness of upper eyelid	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Absent speech development	Often (30–79%)
Agenesis of corpus callosum	Often (30–79%)
Cerebellar vermis hypoplasia	Often (30–79%)
Global developmental delay	Often (30–79%)
Intellectual disability, severe	Often (30–79%)
Nonprogressive cerebellar ataxia	Often (30–79%)
Poor speech	Sometimes (5–29%)
Aplasia/Hypoplasia of the corpus callosum	Not recorded
Ataxia	Not recorded
Intellectual disability	Not recorded
Partial agenesis of the corpus callosum	Not recorded
Small cerebellum	Not recorded

Abnormality of the ear

Trait	How often it is seen
Ears rotated toward back of head	Often (30–79%)
Low-set ears	Not recorded
Prominent ear	Not recorded

Abnormality of the integument

Trait	How often it is seen
Excessive hairiness	Often (30–79%)
Sparse hair	Not recorded

Abnormality of limbs

Trait	How often it is seen
Increased muscle tone of arm or leg	Often (30–79%)

Abnormality of the eye

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

Abnormality of the musculoskeletal system

Trait	How often it is seen
Spasticity and rigidity of muscles	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Growth delay	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 FRMD4A and how often each is seen. Find out more at hpo.jax.org.

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