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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

TraitCât de frecvent apare
Elevated blood homocystineÎntotdeauna
Methylmalonic acidemiaÎntotdeauna
Methylmalonic aciduriaÎntotdeauna
Decreased circulating adenosylcobalamin concentrationFoarte des (80–99%)
Decreased circulating methylcobalamin concentrationFoarte des (80–99%)
Elevated circulating palmitoleylcarnitine concentrationFoarte des (80–99%)
Vitamin B12 deficiencyFoarte des (80–99%)
Elevated circulating propionylcarnitine concentrationUneori (5–29%)
Decreased methionine synthase activityNeînregistrat
Decreased plasma methionineNeînregistrat
High blood cystathionine levelsNeînregistrat
High urine cystathionine levelsNeînregistrat
High urine homocystine levelsNeînregistrat

Abnormality of head or neck

TraitCât de frecvent apare
Abnormal facial shapeDes (30–79%)
Inflammation of the mouthDes (30–79%)
Cleft palateUneori (5–29%)
Inflammation of the tongueUneori (5–29%)
Eye foldsNeînregistrat
High palateNeînregistrat
Thin red part of the upper lipNeînregistrat

Abnormality of blood and blood-forming tissues

TraitCât de frecvent apare
Megaloblastic anemiaFoarte des (80–99%)
Intraventricular hemorrhageUneori (5–29%)
Low blood cell countUneori (5–29%)
Low blood neutrophil countUneori (5–29%)
Low number of red blood cells or hemoglobinUneori (5–29%)
Low platelet countUneori (5–29%)

Abnormality of the nervous system

TraitCât de frecvent apare
EpilepsyDes (30–79%)
Global developmental delayDes (30–79%)
Intellectual disabilityDes (30–79%)
LethargyDes (30–79%)
Neurodevelopmental delayDes (30–79%)
IncoordinationNeînregistrat

Growth abnormality

TraitCât de frecvent apare
Faltering weightDes (30–79%)
Growth delayDes (30–79%)
Prenatal growth deficiencyDes (30–79%)
Small for gestational ageDes (30–79%)
Short statureUneori (5–29%)

Abnormality of the cardiovascular system

TraitCât de frecvent apare
Abnormality of the heartDes (30–79%)
An opening in the wall separating the top two chambers of the heartUneori (5–29%)
Heart tip and four chambers point towards right side of bodyUneori (5–29%)
Patent ductus arteriosusUneori (5–29%)

Abnormality of the digestive system

TraitCât de frecvent apare
Feeding difficultiesDes (30–79%)
Abnormal connection between trachea and esophagusUneori (5–29%)
Enlarged liverUneori (5–29%)
Reduced number of intrahepatic bile ductsUneori (5–29%)

Abnormality of the ear

TraitCât de frecvent apare
Low-set earsNeînregistrat
Small earsNeînregistrat

Abnormality of the immune system

TraitCât de frecvent apare
Recurrent infectionsDes (30–79%)
Skin rashUneori (5–29%)

Abnormality of the musculoskeletal system

TraitCât de frecvent apare
Low muscle toneDes (30–79%)
Generalized decreased muscle toneNeînregistrat

Abnormality of limbs

TraitCât de frecvent apare
Club feetUneori (5–29%)

Abnormality of the genitourinary system

TraitCât de frecvent apare
Absent kidney on one sideUneori (5–29%)

Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.

De unde provin aceste informații

  • 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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