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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

TraitKui sageli seda täheldatakse
Corners of eye widely separatedAlati
Full cheeksAlati
Little lower jawAlati
Mandibular condyle hypoplasiaAlati
MonobrowAlati
Narrow foreheadAlati
Narrow mouthAlati
Skin tag behind the earAlati
Abnormality of the jaw jointSageli (30–79%)
Bad biteSageli (30–79%)
Bifid uvulaSageli (30–79%)
Cleft palateSageli (30–79%)
Dental crowdingSageli (30–79%)
Facial asymmetrySageli (30–79%)
Pits around the earSageli (30–79%)
Retraction of the tongueSageli (30–79%)
Skin tag in front of the earSageli (30–79%)
Tongue muscle weaknessSageli (30–79%)
Abnormally small tongueMõnikord (5–29%)
Adhesion of the temporomandibular jointMõnikord (5–29%)
Big calvariaMõnikord (5–29%)
Hamartoma of tongueMõnikord (5–29%)
Mandibular condyle aplasiaMõnikord (5–29%)
Round facePole registreeritud
Short mandibular ramiPole registreeritud

Abnormality of the ear

TraitKui sageli seda täheldatakse
Darwin tubercle of helixAlati
Question mark earAlati
Cleft helixVäga sageli (80–99%)
Abnormality of the crus of the helixSageli (30–79%)
Abnormally shaped earsSageli (30–79%)
Absent/small external earSageli (30–79%)
Ears rotated toward back of headSageli (30–79%)
Narrow ear canalSageli (30–79%)
Hearing impairmentMõnikord (5–29%)
Low-set earsMõnikord (5–29%)
Cleft at the superior portion of the pinnaPole registreeritud
Hypoplastic superior helixPole registreeritud
Overfolding of the superior helicesPole registreeritud

Abnormality of the nervous system

TraitKui sageli seda täheldatakse
Autism spectrum disorderAlati
Central sleep apneaAlati
Underdevelopment of part of brain called corpus callosumAlati
Obstructive sleep apneaSageli (30–79%)
SnoringSageli (30–79%)
Global developmental delayMõnikord (5–29%)
Mild global developmental delayMõnikord (5–29%)
Speech articulation difficultiesPole registreeritud

Abnormality of the digestive system

TraitKui sageli seda täheldatakse
Chronic constipationAlati
Feeding difficultiesSageli (30–79%)
OmphaloceleSageli (30–79%)

Abnormality of the musculoskeletal system

TraitKui sageli seda täheldatakse
Low muscle toneAlati
OpisthotonusAlati
Generalized decreased muscle toneMõnikord (5–29%)

Abnormality of the respiratory system

TraitKui sageli seda täheldatakse
Breathing difficultiesSageli (30–79%)
Neonatal respiratory distressSageli (30–79%)
ApneaPole registreeritud

Growth abnormality

TraitKui sageli seda täheldatakse
Faltering weightAlati
Growth delay as childrenAlati

Abnormality of the cardiovascular system

TraitKui sageli seda täheldatakse
Vein of Galen aneurysmal malformationHarva (1–4%)

Abnormality of the eye

TraitKui sageli seda täheldatakse
Drooping upper eyelidMõnikord (5–29%)

Abnormality of the genitourinary system

TraitKui sageli seda täheldatakse
Long penisAlati

Abnormality of the integument

TraitKui sageli seda täheldatakse
Sparse hairAlati

Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.

Allikas

  • 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.

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