Traits

Traits linked to LRP4

LDL receptor related protein 4

The Human Phenotype Ontology links 85 traits to LRP4, by body system: features seen in people with one of the gene's rare conditions.

LRP4

Abnormality of head or neck

Trait	How often it is seen
Bell's palsy	Always
Increased thickness of skull cap	Always
Abnormality of the nose	Very often (80–99%)
Enlargement of craniofacial bones	Very often (80–99%)
Frontal bossing	Very often (80–99%)
Downward slanting of the opening between the eyelids	Often (30–79%)
Facial asymmetry	Often (30–79%)
Little lower jaw	Often (30–79%)
Prominent forehead	Often (30–79%)
Zygomatic flattening	Often (30–79%)
Abnormal tooth enamel	Sometimes (5–29%)
Beaked nose	Sometimes (5–29%)
Early loss of adult teeth	Sometimes (5–29%)
Everted eyelid	Sometimes (5–29%)
Failure of development of between one and six teeth	Sometimes (5–29%)
High, narrow palate	Sometimes (5–29%)
Short nose	Sometimes (5–29%)
Short philtrum	Sometimes (5–29%)
Thin dental enamel	Sometimes (5–29%)
Big calvaria	Not recorded
Big lower jaw	Not recorded

Abnormality of limbs

Trait	How often it is seen
Webbed fingers	Always
Abnormal shape of long bones of hand	Very often (80–99%)
Curved outermost finger bone of the hand	Very often (80–99%)
Finger syndactyly	Very often (80–99%)
Fused long bones of hand	Very often (80–99%)
Fusion of wrist bones	Very often (80–99%)
Oligodactyly	Very often (80–99%)
Thickening of shaft or central part of long bones	Very often (80–99%)
Webbed 2nd-3rd fingers	Very often (80–99%)
Webbed fingers or toes	Very often (80–99%)
Fused forearm bones	Often (30–79%)
Fused toes	Often (30–79%)
Short thumb	Often (30–79%)
Underdeveloped inner large forearm bone	Often (30–79%)
Underdeveloped outer large forearm bone	Often (30–79%)
Broad big toe	Sometimes (5–29%)
Elbow dislocation	Sometimes (5–29%)
Hip dislocation	Sometimes (5–29%)
Missing toes	Sometimes (5–29%)
Smaller or shorter than typical limbs	Sometimes (5–29%)
Short finger	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	Always
Muscle weakness	Always
Type 1 muscle fiber predominance	Always
Abnormal cortical bone morphology	Very often (80–99%)
Fusion of joints	Very often (80–99%)
Increased bone mineral density	Very often (80–99%)
Abnormal vertebral body morphology	Sometimes (5–29%)
Abnormality of the ribs	Sometimes (5–29%)
Funnel chest	Sometimes (5–29%)
Missing part of vertebrae	Sometimes (5–29%)
Scoliosis	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Drooping upper eyelid	Always
Wide-set eyes	Often (30–79%)
Bulging eye	Sometimes (5–29%)
Clouding of the lens of the eye	Sometimes (5–29%)
Involuntary, rapid, rhythmic eye movements	Sometimes (5–29%)
Optic atrophy	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Abnormal fingernail development	Very often (80–99%)
Absent fingernail	Very often (80–99%)
Absent nails	Very often (80–99%)
Absent toenail	Often (30–79%)
Atypical nail growth	Often (30–79%)
Abnormal fingerprints	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Abnormal gait	Always
Decreased reflex response	Always
Cranial nerve compression	Often (30–79%)
Spastic ataxia	Often (30–79%)
Delayed motor skills	Sometimes (5–29%)
Tetraparesis	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Absent kidney	Often (30–79%)
Abnormal kidney location	Sometimes (5–29%)
Absent/small kidney	Sometimes (5–29%)
Crossed fused renal ectopia	Sometimes (5–29%)
Small kidneys	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Dizziness	Often (30–79%)
Hearing impairment	Often (30–79%)
Sensorineural hearing impairment	Often (30–79%)
Prominent ear	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Narrowing of pulmonic valve	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties	Always

Abnormality of the endocrine system

Trait	How often it is seen
Underactive thyroid	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Softening of voice box tissue	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Tall stature	Very often (80–99%)

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 LRP4 and how often each is seen. Find out more at hpo.jax.org.

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