Traits

Traits linked to AFF2

ALF transcription elongation factor 2

The Human Phenotype Ontology links 25 traits to AFF2, 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 speech and language development	Always
Intellectual disability	Always
Aggressive behavior	Often (30–79%)
Agitation	Often (30–79%)
Autism spectrum disorder	Often (30–79%)
Clumsiness	Often (30–79%)
Impulsivity	Often (30–79%)
More active than typical	Often (30–79%)
Obsessive compulsive behavior	Often (30–79%)
Recurrent hand flapping	Often (30–79%)
Specific learning disability	Often (30–79%)
Incoordination	Sometimes (5–29%)
Stereotypical body rocking	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Eye folds	Often (30–79%)
Full lips	Often (30–79%)
Prominent nasal bridge	Often (30–79%)
Abnormally small head	Sometimes (5–29%)
Big calvaria	Sometimes (5–29%)
Long upper lip	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Prenatal growth deficiency	Often (30–79%)
Short stature	Often (30–79%)

Abnormality of limbs

Trait	How often it is seen
Curvature of little finger	Sometimes (5–29%)

Abnormality of prenatal development or birth

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

Abnormality of the ear

Trait	How often it is seen
Prominent ear helix	Often (30–79%)

Abnormality of the voice

Trait	How often it is seen
Hoarse voice	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 AFF2 and how often each is seen. Find out more at hpo.jax.org.

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