Traits

Traits linked to LRP2

LDL receptor related protein 2

The Human Phenotype Ontology links 42 traits to LRP2, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of head or neck

Trait	How often it is seen
Broad nasal tip	Very often (80–99%)
Crease in skin under the eye	Very often (80–99%)
Depressed nasal bridge	Very often (80–99%)
Downward slanting of the opening between the eyelids	Very often (80–99%)
Short nose	Very often (80–99%)
Wider-than-typical soft spot of skull	Very often (80–99%)
Widow's peak	Very often (80–99%)
Big calvaria	Often (30–79%)
Broad forehead	Often (30–79%)
Midface retrusion	Not recorded
Zygomatic flattening	Not recorded

Abnormality of the eye

Trait	How often it is seen
Severe near sightedness	Always
Close sighted	Very often (80–99%)
Wide-set eyes	Very often (80–99%)
Bulging eye	Often (30–79%)
Cat eye	Often (30–79%)
Progressive loss of vision	Often (30–79%)
Retinal detachment	Often (30–79%)
Breakdown of light-sensitive cells in back of eye	Sometimes (5–29%)
Clouding of the lens of the eye	Sometimes (5–29%)
Underdeveloped iris	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Agenesis of corpus callosum	Always
Aplasia/Hypoplasia of the corpus callosum	Always
Global developmental delay	Very often (80–99%)
Intellectual disability	Very often (80–99%)
Partial agenesis of the corpus callosum	Often (30–79%)
Epilepsy	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Hearing impairment	Always
Sensorineural hearing impairment	Always
Ears rotated toward back of head	Very often (80–99%)
Low-set ears	Often (30–79%)

Abnormality of the digestive system

Trait	How often it is seen
Omphalocele	Often (30–79%)
Umbilical hernia	Often (30–79%)
Intestinal malrotation	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Non-acidotic proximal tubulopathy	Always
Abnormality of the uterus	Sometimes (5–29%)
Heart shaped uterus	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Congenital diaphragmatic hernia	Often (30–79%)
Diaphragmatic eventration	Often (30–79%)
Short sternum	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Hole in heart wall separating two lower heart chambers	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
High urine protein levels	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 LRP2 and how often each is seen. Find out more at hpo.jax.org.

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