Traits

Traits linked to TAF13

TATA-box binding protein associated factor 13

The Human Phenotype Ontology links 22 traits to TAF13, 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
Global developmental delay	Always
Intellectual disability, mild	Always
Gray matter heterotopia	Very often (80–99%)
Intellectual disability, severe	Very often (80–99%)
Agenesis of corpus callosum	Often (30–79%)
Delayed CNS myelination	Often (30–79%)
Fewer and broader ridges in brain	Often (30–79%)
Increased reflexes	Often (30–79%)
Underdeveloped frontal lobe	Often (30–79%)
Ventriculomegaly	Often (30–79%)

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%)

Growth abnormality

Trait	How often it is seen
Small for gestational age	Always
Growth delay	Very often (80–99%)
Short stature	Very often (80–99%)

Abnormality of the genitourinary system

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

Abnormality of the musculoskeletal system

Trait	How often it is seen
Delayed bone maturation	Always
Abnormal cortical bone morphology	Often (30–79%)

Abnormality of the endocrine system

Trait	How often it is seen
Delayed puberty	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 TAF13 and how often each is seen. Find out more at hpo.jax.org.

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