Traits

Traits linked to MFSD2A

MFSD2 lysolipid transporter A, lysophospholipid

The Human Phenotype Ontology links 30 traits to MFSD2A, 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 speech development	Always
Inability to walk	Always
Increased reflexes	Always
Intellectual disability, severe	Always
Small brainstem	Always
Small cerebellum	Always
Underdevelopment of part of brain called corpus callosum	Always
Ventriculomegaly	Always
Global developmental delay	Very often (80–99%)
Gray matter heterotopia	Very often (80–99%)
Agenesis of corpus callosum	Often (30–79%)
Autism spectrum disorder	Often (30–79%)
Fewer and broader ridges in brain	Often (30–79%)
Underdeveloped frontal lobe	Often (30–79%)
Epilepsy	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Always
Sloping forehead	Very often (80–99%)
Thin red part of the upper lip	Very often (80–99%)
Upward slanting of the opening between the eyelids	Very often (80–99%)
Progressively abnormally small cranium	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Always
Poor head control	Always
Spastic tetraparesis	Always
Abnormal cortical bone morphology	Often (30–79%)
Spastic walk	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Absent kidney on one side	Often (30–79%)
Vesicoureteral reflux	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Growth delay	Very often (80–99%)
Short stature	Very often (80–99%)

Abnormality of limbs

Trait	How often it is seen
Club foot on both sides	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 MFSD2A and how often each is seen. Find out more at hpo.jax.org.

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