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

Abnormality of head or neck

Trait	Hoe vaak het voorkomt
Abnormally small head	Vaak (30–79%)
Bifid uvula	Vaak (30–79%)
Central cleft upper lip	Vaak (30–79%)
Cleft lip	Vaak (30–79%)
Cleft palate	Vaak (30–79%)
Flat nose	Vaak (30–79%)
High palate	Vaak (30–79%)
Proboscis	Vaak (30–79%)
Big calvaria	Soms (5–29%)
Dandy-Walker malformation	Soms (5–29%)
Enlarged cisterna magna	Soms (5–29%)
Frontal bossing	Soms (5–29%)
Mono nostril	Soms (5–29%)
Nasal tip, upturned	Soms (5–29%)
Only one upper front tooth	Soms (5–29%)
Posterior fossa cyst	Soms (5–29%)

Abnormality of the digestive system

Trait	Hoe vaak het voorkomt
Feeding difficulties	Heel vaak (80–99%)
Poor suck	Heel vaak (80–99%)
Acid reflux	Vaak (30–79%)
Constipation	Vaak (30–79%)
Poor swallowing	Vaak (30–79%)
Vomiting	Vaak (30–79%)
Abnormal shape of the digestive system	Soms (5–29%)
Gastrostomy tube feeding in infancy	Soms (5–29%)

Abnormality of the musculoskeletal system

Trait	Hoe vaak het voorkomt
Decreased muscle tone in infant	Vaak (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Vaak (30–79%)
Abnormality of the skeletal system	Soms (5–29%)
Flexed joint that cannot be straightened	Soms (5–29%)
Generalized decreased muscle tone	Soms (5–29%)
Low muscle tone in trunk	Soms (5–29%)
Scoliosis	Soms (5–29%)

Abnormality of the endocrine system

Trait	Hoe vaak het voorkomt
Abnormal hypothalamus physiology	Vaak (30–79%)
Abnormality of the endocrine system	Soms (5–29%)
Central hypothyroidism	Soms (5–29%)
Decreased response to growth hormone stimulation test	Soms (5–29%)
Diabetes insipidus	Soms (5–29%)
Panhypopituitarism	Soms (5–29%)

Abnormality of the cardiovascular system

Trait	Hoe vaak het voorkomt
Hole in heart wall separating two lower heart chambers	Vaak (30–79%)
Abnormal heart rate variability	Soms (5–29%)
Abnormality of the heart	Soms (5–29%)
Aortic valve atresia	Soms (5–29%)
Double outlet right ventricle	Soms (5–29%)

Abnormality of the eye

Trait	Hoe vaak het voorkomt
Abnormality of the eye	Heel vaak (80–99%)
Abnormally close eyes	Heel vaak (80–99%)
Cerebral visual impairment	Vaak (30–79%)
Cyclops eye	Vaak (30–79%)

Abnormality of the ear

Trait	Hoe vaak het voorkomt
Sensorineural hearing impairment	Vaak (30–79%)
Large ears	Soms (5–29%)
Low-set ears	Soms (5–29%)

Abnormality of the respiratory system

Trait	Hoe vaak het voorkomt
Abnormal pattern of respiration	Vaak (30–79%)
Central apnea	Vaak (30–79%)
Chronic lung disease	Vaak (30–79%)

Growth abnormality

Trait	Hoe vaak het voorkomt
Faltering weight	Heel vaak (80–99%)
Growth delay	Heel vaak (80–99%)
Short stature	Heel vaak (80–99%)

Abnormality of limbs

Trait	Hoe vaak het voorkomt
Abnormality of limbs	Soms (5–29%)
Hip dislocation	Soms (5–29%)

Abnormality of the genitourinary system

Trait	Hoe vaak het voorkomt
Abnormality of the genitourinary system	Soms (5–29%)

Abnormality of the immune system

Trait	Hoe vaak het voorkomt
Aspiration pneumonia	Vaak (30–79%)

Laboratory abnormality

Trait	Hoe vaak het voorkomt
Temperature instability	Vaak (30–79%)

Hoe vaak dit voorkomt bij mensen met een van de aandoeningen van het gen, de hoogste frequentie binnen die aandoeningen, zoals de Human Phenotype Ontology dit vastlegt. Deze pagina's beschrijven kenmerken en het onderzoek erachter; het zijn geen diagnose, en over symptomen kunt u het best een arts of genetisch adviseur raadplegen.

Waar dit vandaan komt

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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