Traits

Traits linked to LMBRD2

LMBR1 domain containing 2

The Human Phenotype Ontology links 32 traits to LMBRD2, 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
Abnormally small head	Often (30–79%)
Broad opening between the eyelids	Sometimes (5–29%)
Decreased size of tooth	Sometimes (5–29%)
Limited hair on end of eyebrow	Sometimes (5–29%)
Little lower jaw	Sometimes (5–29%)
Nasal tip, upturned	Sometimes (5–29%)
Prominent area between the eyebrows	Sometimes (5–29%)
Prominent brow	Sometimes (5–29%)
Upward slanting of the opening between the eyelids	Sometimes (5–29%)
Wide nose	Sometimes (5–29%)
Widely spaced teeth	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Abnormally small eyeball	Sometimes (5–29%)
Alternating cross eyes	Sometimes (5–29%)
Astigmatism	Sometimes (5–29%)
Clouding of the lens of the eye	Sometimes (5–29%)
Farsightedness	Sometimes (5–29%)
Glaucoma	Sometimes (5–29%)
Involuntary, rapid, rhythmic eye movements	Sometimes (5–29%)
Lazy eye	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Global developmental delay	Always
Delayed speech and language development	Very often (80–99%)
Motor delay	Very often (80–99%)
Epilepsy	Often (30–79%)
Thin corpus callosum	Often (30–79%)
Gray matter heterotopia	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Involuntary muscle stiffness, contraction, or spasm	Often (30–79%)
Funnel chest	Sometimes (5–29%)
Permanent flexion of the finger or toe	Sometimes (5–29%)
Rounded shoulders	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Inability to straighten knee	Sometimes (5–29%)
Outward turned elbows	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Large ears	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 LMBRD2 and how often each is seen. Find out more at hpo.jax.org.

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