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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

TraitHvor ofte det ses
Elevated blood homocystineAltid
Methylmalonic acidemiaAltid
Methylmalonic aciduriaAltid
Decreased circulating adenosylcobalamin concentrationMeget ofte (80–99 %)
Decreased circulating methylcobalamin concentrationMeget ofte (80–99 %)
Elevated circulating palmitoleylcarnitine concentrationMeget ofte (80–99 %)
Vitamin B12 deficiencyMeget ofte (80–99 %)
Elevated circulating propionylcarnitine concentrationNogle gange (5–29 %)
Decreased methionine synthase activityIkke registreret
Decreased plasma methionineIkke registreret
High blood cystathionine levelsIkke registreret
High urine cystathionine levelsIkke registreret
High urine homocystine levelsIkke registreret

Abnormality of head or neck

TraitHvor ofte det ses
Abnormal facial shapeOfte (30–79 %)
Inflammation of the mouthOfte (30–79 %)
Cleft palateNogle gange (5–29 %)
Inflammation of the tongueNogle gange (5–29 %)
Eye foldsIkke registreret
High palateIkke registreret
Thin red part of the upper lipIkke registreret

Abnormality of blood and blood-forming tissues

TraitHvor ofte det ses
Megaloblastic anemiaMeget ofte (80–99 %)
Intraventricular hemorrhageNogle gange (5–29 %)
Low blood cell countNogle gange (5–29 %)
Low blood neutrophil countNogle gange (5–29 %)
Low number of red blood cells or hemoglobinNogle gange (5–29 %)
Low platelet countNogle gange (5–29 %)

Abnormality of the nervous system

TraitHvor ofte det ses
EpilepsyOfte (30–79 %)
Global developmental delayOfte (30–79 %)
Intellectual disabilityOfte (30–79 %)
LethargyOfte (30–79 %)
Neurodevelopmental delayOfte (30–79 %)
IncoordinationIkke registreret

Growth abnormality

TraitHvor ofte det ses
Faltering weightOfte (30–79 %)
Growth delayOfte (30–79 %)
Prenatal growth deficiencyOfte (30–79 %)
Small for gestational ageOfte (30–79 %)
Short statureNogle gange (5–29 %)

Abnormality of the cardiovascular system

TraitHvor ofte det ses
Abnormality of the heartOfte (30–79 %)
An opening in the wall separating the top two chambers of the heartNogle gange (5–29 %)
Heart tip and four chambers point towards right side of bodyNogle gange (5–29 %)
Patent ductus arteriosusNogle gange (5–29 %)

Abnormality of the digestive system

TraitHvor ofte det ses
Feeding difficultiesOfte (30–79 %)
Abnormal connection between trachea and esophagusNogle gange (5–29 %)
Enlarged liverNogle gange (5–29 %)
Reduced number of intrahepatic bile ductsNogle gange (5–29 %)

Abnormality of the ear

TraitHvor ofte det ses
Low-set earsIkke registreret
Small earsIkke registreret

Abnormality of the immune system

TraitHvor ofte det ses
Recurrent infectionsOfte (30–79 %)
Skin rashNogle gange (5–29 %)

Abnormality of the musculoskeletal system

TraitHvor ofte det ses
Low muscle toneOfte (30–79 %)
Generalized decreased muscle toneIkke registreret

Abnormality of limbs

TraitHvor ofte det ses
Club feetNogle gange (5–29 %)

Abnormality of the genitourinary system

TraitHvor ofte det ses
Absent kidney on one sideNogle gange (5–29 %)

Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.

Hvor oplysningerne kommer fra

  • 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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