Traits

Traits linked to PHEX

phosphate regulating endopeptidase X-linked

The Human Phenotype Ontology links 69 traits to PHEX, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the musculoskeletal system

Trait	How often it is seen
Hypophosphatemic rickets	Always
Rachitic rosary	Always
Weak and soft bones	Always
Abnormal shape of end part of bone	Often (30–79%)
Bone pain	Often (30–79%)
Low solidness and mass of the bones	Often (30–79%)
Arthritis	Sometimes (5–29%)
Enlargement of the costochondral junction	Sometimes (5–29%)
Enthesitis	Sometimes (5–29%)
Flared iliac wing	Sometimes (5–29%)
Limitation of joint mobility	Sometimes (5–29%)
Multiple rib fractures	Sometimes (5–29%)
Muscle weakness	Sometimes (5–29%)
Narrow spinal canal	Sometimes (5–29%)
Sacroiliac joint synovitis	Sometimes (5–29%)
Thick growth plates	Sometimes (5–29%)
Vertebral hyperostosis	Sometimes (5–29%)
Bacterial infection of skin	Rarely (1–4%)
Increased bone density in skeletal bones	Rarely (1–4%)
Abnormal shape of pelvic girdle bone	Not recorded
Degenerative joint disease	Not recorded
Softening of the bones	Not recorded

Abnormality of limbs

Trait	How often it is seen
Bowed legs	Always
Bowed shankbone	Always
Bowed thighbone	Always
Cupped wide portion of hand bones	Always
Knock knees	Always
Abnormality of the wide portion of the lower-limb bone	Very often (80–99%)
Bowing of the long bones	Often (30–79%)
Broad wide portion of upper limb bone	Often (30–79%)
Flattening of the talar dome	Often (30–79%)
Outward bow-leggedness	Often (30–79%)
Shortening of the talar neck	Often (30–79%)
Trapezoidal distal femoral condyles	Sometimes (5–29%)
Bowed calf bone	Not recorded
Irregular wide portion of a long bone	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Delayed ability to walk	Always
Delayed motor skills	Always
Waddling gait	Always
Delayed ability to stand	Often (30–79%)
Chiari type I malformation	Sometimes (5–29%)
Difficulty sleeping	Sometimes (5–29%)
Pressure on spinal cord	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Frontal bossing	Always
Abnormal dentin	Often (30–79%)
Odontodysplasia	Often (30–79%)
Tooth abscess	Often (30–79%)
Deformity of the skull	Sometimes (5–29%)
Poorly mineralized tooth enamel	Not recorded

Laboratory abnormality

Trait	How often it is seen
Elevated alkaline phosphatase	Always
Low blood phosphate level	Always
Low urine calcium levels	Very often (80–99%)
Renal phosphate wasting	Very often (80–99%)
Abnormal blood calcium levels	Often (30–79%)
Elevated circulating parathyroid hormone level	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Increased calcium level in kidney	Often (30–79%)
Kidney stone	Sometimes (5–29%)
Abnormal function of filtrating structures in kidney	Not recorded

Growth abnormality

Trait	How often it is seen
Disproportionate short stature	Often (30–79%)
Growth delay	Often (30–79%)
Short stature	Not recorded

Abnormality of the ear

Trait	How often it is seen
Ringing in ears	Sometimes (5–29%)
Sensorineural hearing impairment	Rarely (1–4%)

Abnormality of the endocrine system

Trait	How often it is seen
Elevated circulating fibroblast growth factor 23 concentration	Sometimes (5–29%)
Secondary hyperparathyroidism	Sometimes (5–29%)

Constitutional symptom

Trait	How often it is seen
Joint pain	Often (30–79%)
Fatigue	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Enlarged liver and spleen	Always

Abnormality of the digestive system

Trait	How often it is seen
Poor swallowing	Sometimes (5–29%)

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

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