Gå til indhold
Brug dine HSA- eller FSA-midler

Traits

Traits linked to PLCB4

phospholipase C beta 4

The Human Phenotype Ontology links 61 traits to PLCB4, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of head or neck

TraitHvor ofte det ses
Corners of eye widely separatedAltid
Full cheeksAltid
Little lower jawAltid
Mandibular condyle hypoplasiaAltid
MonobrowAltid
Narrow foreheadAltid
Narrow mouthAltid
Skin tag behind the earAltid
Abnormality of the jaw jointOfte (30–79 %)
Bad biteOfte (30–79 %)
Bifid uvulaOfte (30–79 %)
Cleft palateOfte (30–79 %)
Dental crowdingOfte (30–79 %)
Facial asymmetryOfte (30–79 %)
Pits around the earOfte (30–79 %)
Retraction of the tongueOfte (30–79 %)
Skin tag in front of the earOfte (30–79 %)
Tongue muscle weaknessOfte (30–79 %)
Abnormally small tongueNogle gange (5–29 %)
Adhesion of the temporomandibular jointNogle gange (5–29 %)
Big calvariaNogle gange (5–29 %)
Hamartoma of tongueNogle gange (5–29 %)
Mandibular condyle aplasiaNogle gange (5–29 %)
Round faceIkke registreret
Short mandibular ramiIkke registreret

Abnormality of the ear

TraitHvor ofte det ses
Darwin tubercle of helixAltid
Question mark earAltid
Cleft helixMeget ofte (80–99 %)
Abnormality of the crus of the helixOfte (30–79 %)
Abnormally shaped earsOfte (30–79 %)
Absent/small external earOfte (30–79 %)
Ears rotated toward back of headOfte (30–79 %)
Narrow ear canalOfte (30–79 %)
Hearing impairmentNogle gange (5–29 %)
Low-set earsNogle gange (5–29 %)
Cleft at the superior portion of the pinnaIkke registreret
Hypoplastic superior helixIkke registreret
Overfolding of the superior helicesIkke registreret

Abnormality of the nervous system

TraitHvor ofte det ses
Autism spectrum disorderAltid
Central sleep apneaAltid
Underdevelopment of part of brain called corpus callosumAltid
Obstructive sleep apneaOfte (30–79 %)
SnoringOfte (30–79 %)
Global developmental delayNogle gange (5–29 %)
Mild global developmental delayNogle gange (5–29 %)
Speech articulation difficultiesIkke registreret

Abnormality of the digestive system

TraitHvor ofte det ses
Chronic constipationAltid
Feeding difficultiesOfte (30–79 %)
OmphaloceleOfte (30–79 %)

Abnormality of the musculoskeletal system

TraitHvor ofte det ses
Low muscle toneAltid
OpisthotonusAltid
Generalized decreased muscle toneNogle gange (5–29 %)

Abnormality of the respiratory system

TraitHvor ofte det ses
Breathing difficultiesOfte (30–79 %)
Neonatal respiratory distressOfte (30–79 %)
ApneaIkke registreret

Growth abnormality

TraitHvor ofte det ses
Faltering weightAltid
Growth delay as childrenAltid

Abnormality of the cardiovascular system

TraitHvor ofte det ses
Vein of Galen aneurysmal malformationSjældent (1–4%)

Abnormality of the eye

TraitHvor ofte det ses
Drooping upper eyelidNogle gange (5–29 %)

Abnormality of the genitourinary system

TraitHvor ofte det ses
Long penisAltid

Abnormality of the integument

TraitHvor ofte det ses
Sparse hairAltid

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 PLCB4 and how often each is seen. Find out more at hpo.jax.org.

Én test. Svar for hele livet.

Fra 449 $Gratis forsendelse · Resultater på 6–8 uger

Bestil min Genome Test