Traits

Traits linked to AP2M1

adaptor related protein complex 2 subunit mu 1

The Human Phenotype Ontology links 56 traits to AP2M1, 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
Intellectual disability	Always
EEG with focal spike waves	Very often (80–99%)
Generalized myoclonic-atonic seizure	Very often (80–99%)
Absence seizure with eyelid myoclonia	Often (30–79%)
Attention deficit	Often (30–79%)
Atypical absence seizure	Often (30–79%)
Autism spectrum disorder	Often (30–79%)
Bilateral tonic-clonic seizure with generalized onset	Often (30–79%)
Brief seizures with staring spells	Often (30–79%)
EEG with polyspike wave complexes	Often (30–79%)
EEG with spike-wave complexes	Often (30–79%)
Generalized myoclonic seizure	Often (30–79%)
Inability to coordinate movements when walking	Often (30–79%)
Instability or lack of coordination of central trunk muscles	Often (30–79%)
Lack of peer relationships	Often (30–79%)
More active than typical	Often (30–79%)
Sudden loss of muscle tone	Often (30–79%)
Abnormal cerebral white matter morphology	Sometimes (5–29%)
Abnormal emotional state	Sometimes (5–29%)
Ataxia	Sometimes (5–29%)
Brain imaging abnormality	Sometimes (5–29%)
Chorea	Sometimes (5–29%)
EEG with generalized slow activity	Sometimes (5–29%)
EEG with irregular generalized spike and wave complexes	Sometimes (5–29%)
Focal impaired awareness seizure	Sometimes (5–29%)
Grand mal seizures	Sometimes (5–29%)
Interictal epileptiform activity	Sometimes (5–29%)
Jerking	Sometimes (5–29%)
Poor social interactions	Sometimes (5–29%)
Simple febrile seizure	Sometimes (5–29%)
Tremor	Sometimes (5–29%)
Abnormal pyramidal sign	Rarely (1–4%)
Delayed speech and language development	Rarely (1–4%)
Epileptic encephalopathy	Rarely (1–4%)
Global developmental delay	Rarely (1–4%)
Seizure affecting one half of brain	Rarely (1–4%)
Unsteady walk	Rarely (1–4%)
Epileptic spasm	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Big maxilla	Sometimes (5–29%)
Thin red part of the upper lip	Sometimes (5–29%)
Abnormal facial shape	Rarely (1–4%)
Abnormally small head	Rarely (1–4%)
Broad philtrum	Rarely (1–4%)
Full lower lip	Rarely (1–4%)
Long philtrum	Rarely (1–4%)
Nasal tip, upturned	Rarely (1–4%)
Prominent forehead	Rarely (1–4%)
Thick nasal alae	Rarely (1–4%)
Wide mouth	Rarely (1–4%)
Wide nasal bridge	Rarely (1–4%)

Abnormality of the integument

Trait	How often it is seen
Frontal balding	Rarely (1–4%)
Premature skin wrinkling	Rarely (1–4%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Generalized decreased muscle tone	Always
Low muscle tone	Rarely (1–4%)

Abnormality of limbs

Trait	How often it is seen
Webbed fingers or toes	Rarely (1–4%)

Abnormality of the eye

Trait	How often it is seen
Abnormally small eyeball	Rarely (1–4%)

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 AP2M1 and how often each is seen. Find out more at hpo.jax.org.

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