Traits

Traits linked to PLCH1

phospholipase C eta 1

The Human Phenotype Ontology links 99 traits to PLCH1, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	How often it is seen
Abnormal central motor function	Often (30–79%)
Abnormal morphology of the olfactory bulb	Often (30–79%)
Abnormal shape of brainstem	Often (30–79%)
Abnormality of the autonomic nervous system	Often (30–79%)
Absent speech development	Often (30–79%)
Anxiety	Often (30–79%)
Aplasia of the falx cerebri	Often (30–79%)
Attention deficit	Often (30–79%)
Behavioral abnormality	Often (30–79%)
Depression	Often (30–79%)
Epilepsy	Often (30–79%)
Holoprosencephaly	Often (30–79%)
Inability to walk	Often (30–79%)
Intellectual disability	Often (30–79%)
Irritability	Often (30–79%)
Lack of feeling, emotion, interest	Often (30–79%)
Lethargy	Often (30–79%)
Limb dystonia	Often (30–79%)
Neural tube defect	Often (30–79%)
Oromotor apraxia	Often (30–79%)
Sleep-wake cycle disturbance	Often (30–79%)
Specific learning disability	Often (30–79%)
Too much cerebrospinal fluid in the brain	Often (30–79%)
Ventriculomegaly	Often (30–79%)
Absent septum pellucidum	Sometimes (5–29%)
Agenesis of corpus callosum	Sometimes (5–29%)
Alobar holoprosencephaly	Sometimes (5–29%)
Aqueductal stenosis	Sometimes (5–29%)
Degeneration of cerebellum	Sometimes (5–29%)
EEG abnormality	Sometimes (5–29%)
Global developmental delay	Sometimes (5–29%)
Grand mal seizures	Sometimes (5–29%)
Gray matter heterotopia	Sometimes (5–29%)
Interhemispheric cyst	Sometimes (5–29%)
Partial absence of cerebellar vermis	Sometimes (5–29%)
Partial agenesis of the corpus callosum	Sometimes (5–29%)
Periventricular heterotopia	Sometimes (5–29%)
Poor speech	Sometimes (5–29%)
Subependymal cysts	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Often (30–79%)
Bifid uvula	Often (30–79%)
Central cleft upper lip	Often (30–79%)
Cleft lip	Often (30–79%)
Cleft palate	Often (30–79%)
Flat nose	Often (30–79%)
High palate	Often (30–79%)
Proboscis	Often (30–79%)
Big calvaria	Sometimes (5–29%)
Dandy-Walker malformation	Sometimes (5–29%)
Enlarged cisterna magna	Sometimes (5–29%)
Frontal bossing	Sometimes (5–29%)
Mono nostril	Sometimes (5–29%)
Nasal tip, upturned	Sometimes (5–29%)
Only one upper front tooth	Sometimes (5–29%)
Posterior fossa cyst	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties	Very often (80–99%)
Poor suck	Very often (80–99%)
Acid reflux	Often (30–79%)
Constipation	Often (30–79%)
Poor swallowing	Often (30–79%)
Vomiting	Often (30–79%)
Abnormal shape of the digestive system	Sometimes (5–29%)
Gastrostomy tube feeding in infancy	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Decreased muscle tone in infant	Often (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Often (30–79%)
Abnormality of the skeletal system	Sometimes (5–29%)
Flexed joint that cannot be straightened	Sometimes (5–29%)
Generalized decreased muscle tone	Sometimes (5–29%)
Low muscle tone in trunk	Sometimes (5–29%)
Scoliosis	Sometimes (5–29%)

Abnormality of the endocrine system

Trait	How often it is seen
Abnormal hypothalamus physiology	Often (30–79%)
Abnormality of the endocrine system	Sometimes (5–29%)
Central hypothyroidism	Sometimes (5–29%)
Decreased response to growth hormone stimulation test	Sometimes (5–29%)
Diabetes insipidus	Sometimes (5–29%)
Panhypopituitarism	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Hole in heart wall separating two lower heart chambers	Often (30–79%)
Abnormal heart rate variability	Sometimes (5–29%)
Abnormality of the heart	Sometimes (5–29%)
Aortic valve atresia	Sometimes (5–29%)
Double outlet right ventricle	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Abnormality of the eye	Very often (80–99%)
Abnormally close eyes	Very often (80–99%)
Cerebral visual impairment	Often (30–79%)
Cyclops eye	Often (30–79%)

Abnormality of the ear

Trait	How often it is seen
Sensorineural hearing impairment	Often (30–79%)
Large ears	Sometimes (5–29%)
Low-set ears	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Abnormal pattern of respiration	Often (30–79%)
Central apnea	Often (30–79%)
Chronic lung disease	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Faltering weight	Very often (80–99%)
Growth delay	Very often (80–99%)
Short stature	Very often (80–99%)

Abnormality of limbs

Trait	How often it is seen
Abnormality of limbs	Sometimes (5–29%)
Hip dislocation	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Abnormality of the genitourinary system	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Aspiration pneumonia	Often (30–79%)

Laboratory abnormality

Trait	How often it is seen
Temperature instability	Often (30–79%)

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 PLCH1 and how often each is seen. Find out more at hpo.jax.org.

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