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

Trait	How often it is seen
Corners of eye widely separated	Always
Full cheeks	Always
Little lower jaw	Always
Mandibular condyle hypoplasia	Always
Monobrow	Always
Narrow forehead	Always
Narrow mouth	Always
Skin tag behind the ear	Always
Abnormality of the jaw joint	Often (30–79%)
Bad bite	Often (30–79%)
Bifid uvula	Often (30–79%)
Cleft palate	Often (30–79%)
Dental crowding	Often (30–79%)
Facial asymmetry	Often (30–79%)
Pits around the ear	Often (30–79%)
Retraction of the tongue	Often (30–79%)
Skin tag in front of the ear	Often (30–79%)
Tongue muscle weakness	Often (30–79%)
Abnormally small tongue	Sometimes (5–29%)
Adhesion of the temporomandibular joint	Sometimes (5–29%)
Big calvaria	Sometimes (5–29%)
Hamartoma of tongue	Sometimes (5–29%)
Mandibular condyle aplasia	Sometimes (5–29%)
Round face	Not recorded
Short mandibular rami	Not recorded

Abnormality of the ear

Trait	How often it is seen
Darwin tubercle of helix	Always
Question mark ear	Always
Cleft helix	Very often (80–99%)
Abnormality of the crus of the helix	Often (30–79%)
Abnormally shaped ears	Often (30–79%)
Absent/small external ear	Often (30–79%)
Ears rotated toward back of head	Often (30–79%)
Narrow ear canal	Often (30–79%)
Hearing impairment	Sometimes (5–29%)
Low-set ears	Sometimes (5–29%)
Cleft at the superior portion of the pinna	Not recorded
Hypoplastic superior helix	Not recorded
Overfolding of the superior helices	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Autism spectrum disorder	Always
Central sleep apnea	Always
Underdevelopment of part of brain called corpus callosum	Always
Obstructive sleep apnea	Often (30–79%)
Snoring	Often (30–79%)
Global developmental delay	Sometimes (5–29%)
Mild global developmental delay	Sometimes (5–29%)
Speech articulation difficulties	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Chronic constipation	Always
Feeding difficulties	Often (30–79%)
Omphalocele	Often (30–79%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Always
Opisthotonus	Always
Generalized decreased muscle tone	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Breathing difficulties	Often (30–79%)
Neonatal respiratory distress	Often (30–79%)
Apnea	Not recorded

Growth abnormality

Trait	How often it is seen
Faltering weight	Always
Growth delay as children	Always

Abnormality of the cardiovascular system

Trait	How often it is seen
Vein of Galen aneurysmal malformation	Rarely (1–4%)

Abnormality of the eye

Trait	How often it is seen
Drooping upper eyelid	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Long penis	Always

Abnormality of the integument

Trait	How often it is seen
Sparse hair	Always

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

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