Traits

Traits linked to AEBP1

AE binding protein 1

The Human Phenotype Ontology links 90 traits to AEBP1, by body system: features seen in people with one of the gene's rare conditions.

AEBP1

Abnormality of the musculoskeletal system

Trait	How often it is seen
Cervical C2/C3 vertebral fusion	Always
Degenerative joint disease	Always
Double-Jointed	Always
Hypermobility of all joints	Always
Lumbago	Always
Osteopenia	Always
Joint dislocation	Very often (80–99%)
Facet joint arthrosis	Often (30–79%)
Low muscle tone	Often (30–79%)
Shoulder dislocation	Often (30–79%)
Thoracic scoliosis	Often (30–79%)
Bacterial infection of skin	Sometimes (5–29%)
Bursitis	Sometimes (5–29%)
Funnel chest	Sometimes (5–29%)
Hunched back	Sometimes (5–29%)
Kyphoscoliosis	Sometimes (5–29%)
Squared iliac bones	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Abnormal dental position	Always
Gum disease	Always
Long uvula	Always
Premature sagging cheeks	Always
Abnormal facial shape	Often (30–79%)
High palate	Often (30–79%)
Little lower jaw	Often (30–79%)
Low hairline at back of neck	Often (30–79%)
Webbed neck	Often (30–79%)
Dry eye syndrome	Sometimes (5–29%)
Early tooth loss	Sometimes (5–29%)
Empty sella turcica	Sometimes (5–29%)
Narrow palate	Sometimes (5–29%)
Sunken cheeks	Sometimes (5–29%)
Short neck	Not recorded
Thin eyebrow	Not recorded

Abnormality of limbs

Trait	How often it is seen
Bunion	Always
Dropped arches	Always
Hammertoe	Always
Hip dislocation	Always
Knee dislocation	Always
Recurrent patellar dislocation	Always
Abnormal feet structure	Very often (80–99%)
Abnormalities of the toes	Sometimes (5–29%)
Dislocated wrist	Sometimes (5–29%)
Elbow dislocation	Sometimes (5–29%)
Equinus calcaneus	Sometimes (5–29%)
Gap between 1st and 2nd toes	Sometimes (5–29%)
Long slender fingers	Sometimes (5–29%)
Phalangeal dislocation	Sometimes (5–29%)
Radioulnar dislocation	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Atypical scarring of skin	Always
Decreased dermal collagen	Always
Hyperelastic skin	Always
Loose redundant skin	Always
Molluscoid pseudotumors	Always
Poor wound healing	Always
Prematurely aged appearance	Always
Soft, doughy skin	Always
Sunken or indented skin due to damage	Always
Widened atrophic scar	Always
Keloids	Often (30–79%)
Patchy darkened skin	Often (30–79%)
Piezogenic pedal papules	Often (30–79%)
Hair loss	Sometimes (5–29%)
Spinal dimple	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Intermittent claudication	Always
Prominent veins	Always
Varicose veins	Always
Mitral valve prolapse	Often (30–79%)
Narrowing of carotid artery	Often (30–79%)
Prominent veins on trunk	Often (30–79%)
Bulge in wall of root of large artery that carries blood away from heart	Sometimes (5–29%)
Fluid around heart	Sometimes (5–29%)
Thoracic aortic aneurysm	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Drooping of both upper eyelids	Often (30–79%)
Astigmatism	Sometimes (5–29%)
Close sighted	Sometimes (5–29%)
Cross-eyed	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Inguinal hernia	Often (30–79%)
Umbilical hernia	Often (30–79%)
Ventral hernia	Often (30–79%)

Abnormality of the nervous system

Trait	How often it is seen
Motor delay	Often (30–79%)
Global developmental delay	Sometimes (5–29%)
Impaired temperature sensation	Sometimes (5–29%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Bruising susceptibility	Always
Recurrent thrombophlebitis	Always

Laboratory abnormality

Trait	How often it is seen
Diabetes mellitus	Sometimes (5–29%)
Increased plasma triglycerides	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Large ears	Often (30–79%)

Abnormality of the genitourinary system

Trait	How often it is seen
Undescended testes	Often (30–79%)

Abnormality of the respiratory system

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

Constitutional symptom

Trait	How often it is seen
Chronic fatigue	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 AEBP1 and how often each is seen. Find out more at hpo.jax.org.

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