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

Abnormality of head or neck

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

Abnormality of the digestive system

Trait	Cât de frecvent apare
Feeding difficulties	Foarte des (80–99%)
Poor suck	Foarte des (80–99%)
Acid reflux	Des (30–79%)
Constipation	Des (30–79%)
Poor swallowing	Des (30–79%)
Vomiting	Des (30–79%)
Abnormal shape of the digestive system	Uneori (5–29%)
Gastrostomy tube feeding in infancy	Uneori (5–29%)

Abnormality of the musculoskeletal system

Trait	Cât de frecvent apare
Decreased muscle tone in infant	Des (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Des (30–79%)
Abnormality of the skeletal system	Uneori (5–29%)
Flexed joint that cannot be straightened	Uneori (5–29%)
Generalized decreased muscle tone	Uneori (5–29%)
Low muscle tone in trunk	Uneori (5–29%)
Scoliosis	Uneori (5–29%)

Abnormality of the endocrine system

Trait	Cât de frecvent apare
Abnormal hypothalamus physiology	Des (30–79%)
Abnormality of the endocrine system	Uneori (5–29%)
Central hypothyroidism	Uneori (5–29%)
Decreased response to growth hormone stimulation test	Uneori (5–29%)
Diabetes insipidus	Uneori (5–29%)
Panhypopituitarism	Uneori (5–29%)

Abnormality of the cardiovascular system

Trait	Cât de frecvent apare
Hole in heart wall separating two lower heart chambers	Des (30–79%)
Abnormal heart rate variability	Uneori (5–29%)
Abnormality of the heart	Uneori (5–29%)
Aortic valve atresia	Uneori (5–29%)
Double outlet right ventricle	Uneori (5–29%)

Abnormality of the eye

Trait	Cât de frecvent apare
Abnormality of the eye	Foarte des (80–99%)
Abnormally close eyes	Foarte des (80–99%)
Cerebral visual impairment	Des (30–79%)
Cyclops eye	Des (30–79%)

Abnormality of the ear

Trait	Cât de frecvent apare
Sensorineural hearing impairment	Des (30–79%)
Large ears	Uneori (5–29%)
Low-set ears	Uneori (5–29%)

Abnormality of the respiratory system

Trait	Cât de frecvent apare
Abnormal pattern of respiration	Des (30–79%)
Central apnea	Des (30–79%)
Chronic lung disease	Des (30–79%)

Growth abnormality

Trait	Cât de frecvent apare
Faltering weight	Foarte des (80–99%)
Growth delay	Foarte des (80–99%)
Short stature	Foarte des (80–99%)

Abnormality of limbs

Trait	Cât de frecvent apare
Abnormality of limbs	Uneori (5–29%)
Hip dislocation	Uneori (5–29%)

Abnormality of the genitourinary system

Trait	Cât de frecvent apare
Abnormality of the genitourinary system	Uneori (5–29%)

Abnormality of the immune system

Trait	Cât de frecvent apare
Aspiration pneumonia	Des (30–79%)

Laboratory abnormality

Trait	Cât de frecvent apare
Temperature instability	Des (30–79%)

Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.

De unde provin aceste informații

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.

Un test. Răspunsuri pentru o viață.

De la 449 $Livrare gratuită · Rezultate în 6–8 săptămâni

Comandați Genome Test-ul meu