Traits

Traits linked to AAAS

aladin WD repeat nucleoporin

The Human Phenotype Ontology links 46 traits to AAAS, by body system: features seen in people with one of the gene's rare conditions.

AAAS

Abnormality of the nervous system

Trait	How often it is seen
Abnormal autonomic nervous system physiology	Sometimes (5–29%)
Ataxia	Sometimes (5–29%)
Increased reflexes	Sometimes (5–29%)
Intellectual disability	Sometimes (5–29%)
Loss of developmental milestones	Sometimes (5–29%)
Motor axonal neuropathy	Sometimes (5–29%)
Babinski sign	Not recorded
Difficulty articulating speech	Not recorded
Global developmental delay	Not recorded

Abnormality of the endocrine system

Trait	How often it is seen
Adrenal insufficiency	Very often (80–99%)
Impaired cortisol response to corticotropin releasing hormone stimulation test	Often (30–79%)
Increased circulating ACTH level	Often (30–79%)
Low blood cortisol level	Often (30–79%)
Low blood aldosterone level	Rarely (1–4%)
Adrenocorticotropin receptor defect	Not recorded

Abnormality of the eye

Trait	How often it is seen
Absence of tears in the eyes	Always
Corneal ulceration	Sometimes (5–29%)
Optic atrophy	Sometimes (5–29%)
Visual impairment	Sometimes (5–29%)
Abnormality of visual evoked potentials	Not recorded
Asymmetric pupil sizes	Not recorded

Abnormality of limbs

Trait	How often it is seen
Thickening of palms and soles	Often (30–79%)
Abnormality of the hypothenar eminence	Sometimes (5–29%)
High-arched foot	Sometimes (5–29%)
Plantar hyperkeratosis	Sometimes (5–29%)
Thickening of the outer layer of the skin of the palms and soles	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Achalasia	Always
Feeding difficulties in infancy	Often (30–79%)
Vomiting	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Faltering weight in infancy	Often (30–79%)
Short stature	Often (30–79%)
Weight loss	Often (30–79%)

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Sometimes (5–29%)
Dry eye syndrome	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Low blood pressure	Often (30–79%)
Decrease in blood pressure upon standing up	Not recorded

Abnormality of the integument

Trait	How often it is seen
Generalized hyperpigmentation	Very often (80–99%)
Patchy darkened skin	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Sometimes (5–29%)
Muscle weakness	Not recorded

Abnormality of the respiratory system

Trait	How often it is seen
Cough	Often (30–79%)
Respiratory function loss	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Hypoglycemic seizures	Often (30–79%)
Low blood sugar	Often (30–79%)

Abnormality of the ear

Trait	How often it is seen
Sensorineural hearing impairment	Sometimes (5–29%)

Abnormality of the voice

Trait	How often it is seen
Nasal speech	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 AAAS and how often each is seen. Find out more at hpo.jax.org.

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