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 det ses
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	Nogle gange (5–29 %)
Agenesis of corpus callosum	Nogle gange (5–29 %)
Alobar holoprosencephaly	Nogle gange (5–29 %)
Aqueductal stenosis	Nogle gange (5–29 %)
Degeneration of cerebellum	Nogle gange (5–29 %)
EEG abnormality	Nogle gange (5–29 %)
Global developmental delay	Nogle gange (5–29 %)
Grand mal seizures	Nogle gange (5–29 %)
Gray matter heterotopia	Nogle gange (5–29 %)
Interhemispheric cyst	Nogle gange (5–29 %)
Partial absence of cerebellar vermis	Nogle gange (5–29 %)
Partial agenesis of the corpus callosum	Nogle gange (5–29 %)
Periventricular heterotopia	Nogle gange (5–29 %)
Poor speech	Nogle gange (5–29 %)
Subependymal cysts	Nogle gange (5–29 %)

Abnormality of head or neck

Trait	Hvor ofte det ses
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	Nogle gange (5–29 %)
Dandy-Walker malformation	Nogle gange (5–29 %)
Enlarged cisterna magna	Nogle gange (5–29 %)
Frontal bossing	Nogle gange (5–29 %)
Mono nostril	Nogle gange (5–29 %)
Nasal tip, upturned	Nogle gange (5–29 %)
Only one upper front tooth	Nogle gange (5–29 %)
Posterior fossa cyst	Nogle gange (5–29 %)

Abnormality of the digestive system

Trait	Hvor ofte det ses
Feeding difficulties	Meget ofte (80–99 %)
Poor suck	Meget 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	Nogle gange (5–29 %)
Gastrostomy tube feeding in infancy	Nogle gange (5–29 %)

Abnormality of the musculoskeletal system

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

Abnormality of the endocrine system

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

Abnormality of the cardiovascular system

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

Abnormality of the eye

Trait	Hvor ofte det ses
Abnormality of the eye	Meget ofte (80–99 %)
Abnormally close eyes	Meget ofte (80–99 %)
Cerebral visual impairment	Ofte (30–79 %)
Cyclops eye	Ofte (30–79 %)

Abnormality of the ear

Trait	Hvor ofte det ses
Sensorineural hearing impairment	Ofte (30–79 %)
Large ears	Nogle gange (5–29 %)
Low-set ears	Nogle gange (5–29 %)

Abnormality of the respiratory system

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

Growth abnormality

Trait	Hvor ofte det ses
Faltering weight	Meget ofte (80–99 %)
Growth delay	Meget ofte (80–99 %)
Short stature	Meget ofte (80–99 %)

Abnormality of limbs

Trait	Hvor ofte det ses
Abnormality of limbs	Nogle gange (5–29 %)
Hip dislocation	Nogle gange (5–29 %)

Abnormality of the genitourinary system

Trait	Hvor ofte det ses
Abnormality of the genitourinary system	Nogle gange (5–29 %)

Abnormality of the immune system

Trait	Hvor ofte det ses
Aspiration pneumonia	Ofte (30–79 %)

Laboratory abnormality

Trait	Hvor ofte det ses
Temperature instability	Ofte (30–79 %)

Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.

Hvor oplysningerne kommer fra

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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