Trăsături

Trăsături asociate cu CLTC

clathrin heavy chain

Human Phenotype Ontology asociază 77 trăsături cu CLTC, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Intellectual disability	Întotdeauna
Encephalopathy	Foarte des (80–99%)
Abnormality of coordination	Des (30–79%)
Decreased reflex response	Des (30–79%)
Delayed speech and language development	Des (30–79%)
EEG with multifocal slow activity	Des (30–79%)
Epilepsy	Des (30–79%)
Global developmental delay	Des (30–79%)
Loss of developmental milestones	Des (30–79%)
Abnormal corpus callosum morphology	Uneori (5–29%)
Abnormal gait	Uneori (5–29%)
Abnormal myelination	Uneori (5–29%)
Absent speech development	Uneori (5–29%)
Ataxia	Uneori (5–29%)
Attention deficit	Uneori (5–29%)
Autism	Uneori (5–29%)
Behavioral abnormality	Uneori (5–29%)
Brain degeneration	Uneori (5–29%)
Clumsiness	Uneori (5–29%)
Decreased muscle movement	Uneori (5–29%)
Degeneration of cerebrum	Uneori (5–29%)
Delayed CNS myelination	Uneori (5–29%)
Delayed myelination	Uneori (5–29%)
Diminished deep tendon reflex	Uneori (5–29%)
Disorder of involuntary muscle movements	Uneori (5–29%)
Dystonia	Uneori (5–29%)
Hypsarrhythmia	Uneori (5–29%)
Impulsivity	Uneori (5–29%)
Inability to walk	Uneori (5–29%)
Involuntary movements	Uneori (5–29%)
Jerking	Uneori (5–29%)
Lateral ventricle dilatation	Uneori (5–29%)
Mental deterioration	Uneori (5–29%)
Mental slowness	Uneori (5–29%)
Oromotor apraxia	Uneori (5–29%)
Partial paralysis of legs	Uneori (5–29%)
Pontocerebellar atrophy	Uneori (5–29%)
Poor social interactions	Uneori (5–29%)
Short attention span	Uneori (5–29%)
Slow movements	Uneori (5–29%)
Thin corpus callosum	Uneori (5–29%)
Tremor	Uneori (5–29%)
Unsteady walk	Uneori (5–29%)
Wide based walk	Uneori (5–29%)
Repeated seizures without recovery between them	Rar (1–4%)

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Abnormally small head	Uneori (5–29%)
Decreased facial expressions	Uneori (5–29%)
Development of small head that was not present at birth	Uneori (5–29%)
Downward slanting of the opening between the eyelids	Uneori (5–29%)
Failure of development of between one and six teeth	Uneori (5–29%)
High forehead	Uneori (5–29%)
High palate	Neînregistrat
Long philtrum	Neînregistrat
Open mouth	Neînregistrat
Thin red part of the upper lip	Neînregistrat
Upward slanting of the opening between the eyelids	Neînregistrat

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Drooping upper eyelid	Uneori (5–29%)
Involuntary, rapid, rhythmic eye movements	Uneori (5–29%)
Visual impairment	Uneori (5–29%)
Abnormal involuntary eye movements	Rar (1–4%)
Abnormality of vision	Rar (1–4%)
Optic atrophy	Rar (1–4%)
Retina degeneration	Rar (1–4%)

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Generalized decreased muscle tone	Des (30–79%)
Low muscle tone	Des (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Uneori (5–29%)
Lower limb spasticity	Uneori (5–29%)
Poor head control	Uneori (5–29%)
Rigidity	Uneori (5–29%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Acid reflux	Uneori (5–29%)
Feeding difficulties	Uneori (5–29%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Sensorineural hearing impairment	Uneori (5–29%)
Prominent ear	Neînregistrat

Growth abnormality

Trăsătură	Cât de frecvent apare
Faltering weight	Des (30–79%)
Short stature	Uneori (5–29%)

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Increased muscle tone of arm or leg	Rar (1–4%)

Abnormality of prenatal development or birth

Trăsătură	Cât de frecvent apare
Less than 10 fetal movements in 12 hours	Uneori (5–29%)

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

Human Phenotype Ontology, versiunea 2026-09-01: trăsăturile asociate cu CLTC și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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