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

Abnormality of head or neck

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

Abnormality of the digestive system

Trait	Kuinka usein sitä esiintyy
Feeding difficulties	Hyvin usein (80–99%)
Poor suck	Hyvin usein (80–99%)
Acid reflux	Usein (30–79%)
Constipation	Usein (30–79%)
Poor swallowing	Usein (30–79%)
Vomiting	Usein (30–79%)
Abnormal shape of the digestive system	Joskus (5–29%)
Gastrostomy tube feeding in infancy	Joskus (5–29%)

Abnormality of the musculoskeletal system

Trait	Kuinka usein sitä esiintyy
Decreased muscle tone in infant	Usein (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Usein (30–79%)
Abnormality of the skeletal system	Joskus (5–29%)
Flexed joint that cannot be straightened	Joskus (5–29%)
Generalized decreased muscle tone	Joskus (5–29%)
Low muscle tone in trunk	Joskus (5–29%)
Scoliosis	Joskus (5–29%)

Abnormality of the endocrine system

Trait	Kuinka usein sitä esiintyy
Abnormal hypothalamus physiology	Usein (30–79%)
Abnormality of the endocrine system	Joskus (5–29%)
Central hypothyroidism	Joskus (5–29%)
Decreased response to growth hormone stimulation test	Joskus (5–29%)
Diabetes insipidus	Joskus (5–29%)
Panhypopituitarism	Joskus (5–29%)

Abnormality of the cardiovascular system

Trait	Kuinka usein sitä esiintyy
Hole in heart wall separating two lower heart chambers	Usein (30–79%)
Abnormal heart rate variability	Joskus (5–29%)
Abnormality of the heart	Joskus (5–29%)
Aortic valve atresia	Joskus (5–29%)
Double outlet right ventricle	Joskus (5–29%)

Abnormality of the eye

Trait	Kuinka usein sitä esiintyy
Abnormality of the eye	Hyvin usein (80–99%)
Abnormally close eyes	Hyvin usein (80–99%)
Cerebral visual impairment	Usein (30–79%)
Cyclops eye	Usein (30–79%)

Abnormality of the ear

Trait	Kuinka usein sitä esiintyy
Sensorineural hearing impairment	Usein (30–79%)
Large ears	Joskus (5–29%)
Low-set ears	Joskus (5–29%)

Abnormality of the respiratory system

Trait	Kuinka usein sitä esiintyy
Abnormal pattern of respiration	Usein (30–79%)
Central apnea	Usein (30–79%)
Chronic lung disease	Usein (30–79%)

Growth abnormality

Trait	Kuinka usein sitä esiintyy
Faltering weight	Hyvin usein (80–99%)
Growth delay	Hyvin usein (80–99%)
Short stature	Hyvin usein (80–99%)

Abnormality of limbs

Trait	Kuinka usein sitä esiintyy
Abnormality of limbs	Joskus (5–29%)
Hip dislocation	Joskus (5–29%)

Abnormality of the genitourinary system

Trait	Kuinka usein sitä esiintyy
Abnormality of the genitourinary system	Joskus (5–29%)

Abnormality of the immune system

Trait	Kuinka usein sitä esiintyy
Aspiration pneumonia	Usein (30–79%)

Laboratory abnormality

Trait	Kuinka usein sitä esiintyy
Temperature instability	Usein (30–79%)

Kuinka usein ilmiö esiintyy ihmisillä, joilla on jokin geenin sairauksista, niin kuin Human Phenotype Ontology sen kirjaa. Nämä sivut kuvaavat piirteitä ja niiden taustalla olevaa tutkimusta, eivätkä ne ole diagnoosi. Oireista kannattaa kysyä lääkäriltä tai geneettiseltä neuvojalta.

Mistä tämä tieto tulee

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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