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

Abnormality of head or neck

Trait	Hvor ofte den forekommer
Abnormally small head	Ofte (30–79 %)
Bifid uvula	Ofte (30–79 %)
Central cleft upper lip	Ofte (30–79 %)
Cleft lip	Ofte (30–79 %)
Cleft palate	Ofte (30–79 %)
Flat nose	Ofte (30–79 %)
High palate	Ofte (30–79 %)
Proboscis	Ofte (30–79 %)
Big calvaria	Noen ganger (5–29 %)
Dandy-Walker malformation	Noen ganger (5–29 %)
Enlarged cisterna magna	Noen ganger (5–29 %)
Frontal bossing	Noen ganger (5–29 %)
Mono nostril	Noen ganger (5–29 %)
Nasal tip, upturned	Noen ganger (5–29 %)
Only one upper front tooth	Noen ganger (5–29 %)
Posterior fossa cyst	Noen ganger (5–29 %)

Abnormality of the digestive system

Trait	Hvor ofte den forekommer
Feeding difficulties	Svært ofte (80–99 %)
Poor suck	Svært ofte (80–99 %)
Acid reflux	Ofte (30–79 %)
Constipation	Ofte (30–79 %)
Poor swallowing	Ofte (30–79 %)
Vomiting	Ofte (30–79 %)
Abnormal shape of the digestive system	Noen ganger (5–29 %)
Gastrostomy tube feeding in infancy	Noen ganger (5–29 %)

Abnormality of the musculoskeletal system

Trait	Hvor ofte den forekommer
Decreased muscle tone in infant	Ofte (30–79 %)
Involuntary muscle stiffness, contraction, or spasm	Ofte (30–79 %)
Abnormality of the skeletal system	Noen ganger (5–29 %)
Flexed joint that cannot be straightened	Noen ganger (5–29 %)
Generalized decreased muscle tone	Noen ganger (5–29 %)
Low muscle tone in trunk	Noen ganger (5–29 %)
Scoliosis	Noen ganger (5–29 %)

Abnormality of the endocrine system

Trait	Hvor ofte den forekommer
Abnormal hypothalamus physiology	Ofte (30–79 %)
Abnormality of the endocrine system	Noen ganger (5–29 %)
Central hypothyroidism	Noen ganger (5–29 %)
Decreased response to growth hormone stimulation test	Noen ganger (5–29 %)
Diabetes insipidus	Noen ganger (5–29 %)
Panhypopituitarism	Noen ganger (5–29 %)

Abnormality of the cardiovascular system

Trait	Hvor ofte den forekommer
Hole in heart wall separating two lower heart chambers	Ofte (30–79 %)
Abnormal heart rate variability	Noen ganger (5–29 %)
Abnormality of the heart	Noen ganger (5–29 %)
Aortic valve atresia	Noen ganger (5–29 %)
Double outlet right ventricle	Noen ganger (5–29 %)

Abnormality of the eye

Trait	Hvor ofte den forekommer
Abnormality of the eye	Svært ofte (80–99 %)
Abnormally close eyes	Svært ofte (80–99 %)
Cerebral visual impairment	Ofte (30–79 %)
Cyclops eye	Ofte (30–79 %)

Abnormality of the ear

Trait	Hvor ofte den forekommer
Sensorineural hearing impairment	Ofte (30–79 %)
Large ears	Noen ganger (5–29 %)
Low-set ears	Noen ganger (5–29 %)

Abnormality of the respiratory system

Trait	Hvor ofte den forekommer
Abnormal pattern of respiration	Ofte (30–79 %)
Central apnea	Ofte (30–79 %)
Chronic lung disease	Ofte (30–79 %)

Growth abnormality

Trait	Hvor ofte den forekommer
Faltering weight	Svært ofte (80–99 %)
Growth delay	Svært ofte (80–99 %)
Short stature	Svært ofte (80–99 %)

Abnormality of limbs

Trait	Hvor ofte den forekommer
Abnormality of limbs	Noen ganger (5–29 %)
Hip dislocation	Noen ganger (5–29 %)

Abnormality of the genitourinary system

Trait	Hvor ofte den forekommer
Abnormality of the genitourinary system	Noen ganger (5–29 %)

Abnormality of the immune system

Trait	Hvor ofte den forekommer
Aspiration pneumonia	Ofte (30–79 %)

Laboratory abnormality

Trait	Hvor ofte den forekommer
Temperature instability	Ofte (30–79 %)

Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.

Slik er informasjonen samlet

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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