Traits

Traits linked to LMBRD1

LMBR1 domain containing 1

The Human Phenotype Ontology links 53 traits to LMBRD1, by body system: features seen in people with one of the gene's rare conditions.

Laboratory abnormality

Trait	How often it is seen
Elevated blood homocystine	Always
Methylmalonic acidemia	Always
Methylmalonic aciduria	Always
Decreased circulating adenosylcobalamin concentration	Very often (80–99%)
Decreased circulating methylcobalamin concentration	Very often (80–99%)
Elevated circulating palmitoleylcarnitine concentration	Very often (80–99%)
Vitamin B12 deficiency	Very often (80–99%)
Elevated circulating propionylcarnitine concentration	Sometimes (5–29%)
Decreased methionine synthase activity	Not recorded
Decreased plasma methionine	Not recorded
High blood cystathionine levels	Not recorded
High urine cystathionine levels	Not recorded
High urine homocystine levels	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Abnormal facial shape	Often (30–79%)
Inflammation of the mouth	Often (30–79%)
Cleft palate	Sometimes (5–29%)
Inflammation of the tongue	Sometimes (5–29%)
Eye folds	Not recorded
High palate	Not recorded
Thin red part of the upper lip	Not recorded

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Megaloblastic anemia	Very often (80–99%)
Intraventricular hemorrhage	Sometimes (5–29%)
Low blood cell count	Sometimes (5–29%)
Low blood neutrophil count	Sometimes (5–29%)
Low number of red blood cells or hemoglobin	Sometimes (5–29%)
Low platelet count	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Epilepsy	Often (30–79%)
Global developmental delay	Often (30–79%)
Intellectual disability	Often (30–79%)
Lethargy	Often (30–79%)
Neurodevelopmental delay	Often (30–79%)
Incoordination	Not recorded

Growth abnormality

Trait	How often it is seen
Faltering weight	Often (30–79%)
Growth delay	Often (30–79%)
Prenatal growth deficiency	Often (30–79%)
Small for gestational age	Often (30–79%)
Short stature	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormality of the heart	Often (30–79%)
An opening in the wall separating the top two chambers of the heart	Sometimes (5–29%)
Heart tip and four chambers point towards right side of body	Sometimes (5–29%)
Patent ductus arteriosus	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties	Often (30–79%)
Abnormal connection between trachea and esophagus	Sometimes (5–29%)
Enlarged liver	Sometimes (5–29%)
Reduced number of intrahepatic bile ducts	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Low-set ears	Not recorded
Small ears	Not recorded

Abnormality of the immune system

Trait	How often it is seen
Recurrent infections	Often (30–79%)
Skin rash	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Often (30–79%)
Generalized decreased muscle tone	Not recorded

Abnormality of limbs

Trait	How often it is seen
Club feet	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Absent kidney on one side	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 LMBRD1 and how often each is seen. Find out more at hpo.jax.org.

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