Traits

Traits linked to CDKL5

cyclin dependent kinase like 5

The Human Phenotype Ontology links 146 traits to CDKL5, 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
EEG with generalized slow activity	Întotdeauna
Epilepsy	Întotdeauna
Global developmental delay	Întotdeauna
Abnormal gait	Foarte des (80–99%)
Abnormality of movement	Foarte des (80–99%)
Agitation	Foarte des (80–99%)
Autism spectrum disorder	Foarte des (80–99%)
Difficulty sleeping	Foarte des (80–99%)
EEG abnormality	Foarte des (80–99%)
Epileptic encephalopathy	Foarte des (80–99%)
Focal motor seizure	Foarte des (80–99%)
Generalized myoclonic seizure	Foarte des (80–99%)
Generalized tonic seizure	Foarte des (80–99%)
Hypsarrhythmia	Foarte des (80–99%)
Infantile spasms	Foarte des (80–99%)
Intellectual disability	Foarte des (80–99%)
Involuntary movements	Foarte des (80–99%)
Jerking	Foarte des (80–99%)
Loss of developmental milestones	Foarte des (80–99%)
Loss of speech	Foarte des (80–99%)
Poor eye contact	Foarte des (80–99%)
Stereotypical hand wringing	Foarte des (80–99%)
Abnormality of the nervous system	Des (30–79%)
Apraxia	Des (30–79%)
Delayed motor skills	Des (30–79%)
Delayed speech and language development	Des (30–79%)
Dystonia	Des (30–79%)
EEG with burst suppression	Des (30–79%)
Focal tonic seizure	Des (30–79%)
Generalized-onset seizure	Des (30–79%)
Grand mal seizures	Des (30–79%)
Hand apraxia	Des (30–79%)
Impaired pain sensation	Des (30–79%)
Inability to coordinate movements when walking	Des (30–79%)
Inability to speak	Des (30–79%)
Inability to walk	Des (30–79%)
Increased reflexes	Des (30–79%)
Lethargy	Des (30–79%)
Limb myoclonus	Des (30–79%)
Loss of ability to walk	Des (30–79%)
Moderate global developmental delay	Des (30–79%)
Multifocal epileptiform discharges	Des (30–79%)
Myoclonic seizure	Des (30–79%)
Neonatal seizure	Des (30–79%)
Poor social interactions	Des (30–79%)
Repetitive movements	Des (30–79%)
Restrictive behavior	Des (30–79%)
Seizure affecting one half of brain	Des (30–79%)
Severe global developmental delay	Des (30–79%)
Sleep-wake cycle disturbance	Des (30–79%)
Tactile hypersensitivity	Des (30–79%)
Teeth grinding	Des (30–79%)
Tongue thrusting	Des (30–79%)
Brief seizures with staring spells	Uneori (5–29%)
Chorea	Uneori (5–29%)
Choreoathetosis	Uneori (5–29%)
Degeneration of cerebellum	Uneori (5–29%)
Delayed myelination	Uneori (5–29%)
Developmental stagnation	Uneori (5–29%)
Diffuse cerebral atrophy	Uneori (5–29%)
Diffuse white matter abnormalities	Uneori (5–29%)
Disorder of involuntary muscle movements	Uneori (5–29%)
EEG with spike-wave complexes	Uneori (5–29%)
Episodic ataxia	Uneori (5–29%)
Febrile seizure (within the age range of 3 months to 6 years)	Uneori (5–29%)
Fewer and broader ridges in brain	Uneori (5–29%)
Generalized clonic seizure	Uneori (5–29%)
Inappropriate crying	Uneori (5–29%)
Inappropriate laughter	Uneori (5–29%)
Intellectual disability, mild	Uneori (5–29%)
More active than typical	Uneori (5–29%)
Panic attack	Uneori (5–29%)
Paroxysmal bursts of laughter	Uneori (5–29%)
Pill-rolling tremor	Uneori (5–29%)
Self-injurious behavior	Uneori (5–29%)
Sudden loss of muscle tone	Uneori (5–29%)
Tremor	Uneori (5–29%)
Underdevelopment of part of brain called corpus callosum	Uneori (5–29%)
Uni- and bilateral multifocal epileptiform discharges	Uneori (5–29%)
IQ less than 20	Neînregistrat
Multifocal seizures	Neînregistrat

Abnormality of head or neck

Trait	Cât de frecvent apare
Broad forehead	Des (30–79%)
Deep philtrum	Des (30–79%)
Development of small head that was not present at birth	Des (30–79%)
Drooping lower lip	Des (30–79%)
Full lips	Des (30–79%)
Prominent forehead	Des (30–79%)
Abnormally small head	Uneori (5–29%)
High forehead	Uneori (5–29%)
Monobrow	Uneori (5–29%)
Narrow forehead	Uneori (5–29%)
Cleft palate	Rar (1–4%)
Depressed nasal bridge	Rar (1–4%)
Nasal tip, upturned	Rar (1–4%)
Sloping forehead	Rar (1–4%)
Full lower lip	Neînregistrat
Progressively abnormally small cranium	Neînregistrat

Abnormality of the musculoskeletal system

Trait	Cât de frecvent apare
Functional motor deficit	Foarte des (80–99%)
Scoliosis	Foarte des (80–99%)
Abnormal muscle tone	Des (30–79%)
Decreased muscle tone in infant	Des (30–79%)
Generalized decreased muscle tone	Des (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Des (30–79%)
Low muscle tone	Des (30–79%)
Poor head control	Des (30–79%)
Hunched back	Uneori (5–29%)
Low muscle tone, in neonatal onset	Uneori (5–29%)

Abnormality of limbs

Trait	Cât de frecvent apare
Broad innermost finger bones of the hand	Des (30–79%)
Short foot	Des (30–79%)
Small hand	Des (30–79%)
Bunion	Uneori (5–29%)
Broad finger	Rar (1–4%)
Short finger	Rar (1–4%)
Wide toe bones	Rar (1–4%)
Tapered finger	Neînregistrat

Abnormality of the digestive system

Trait	Cât de frecvent apare
Feeding difficulties	Foarte des (80–99%)
Acid reflux	Des (30–79%)
Constipation	Des (30–79%)
Functional abnormality of the gastrointestinal tract	Des (30–79%)
Gastrostomy tube feeding in infancy	Des (30–79%)
Poor suck	Des (30–79%)
Poor swallowing	Des (30–79%)
Umbilical hernia	Rar (1–4%)

Abnormality of the eye

Trait	Cât de frecvent apare
Cerebral visual impairment	Des (30–79%)
Deeply set eye	Des (30–79%)
Inward turning cross eyed	Uneori (5–29%)
Outward facing eye ball	Uneori (5–29%)
Cross-eyed	Rar (1–4%)
Total ophthalmoplegia	Neînregistrat

Abnormality of the respiratory system

Trait	Cât de frecvent apare
Abnormal pattern of respiration	Foarte des (80–99%)
Episodic tachypnea	Des (30–79%)
Sudden episodic apnea	Des (30–79%)
Apnea	Uneori (5–29%)
Rapid breathing	Uneori (5–29%)

Abnormality of the genitourinary system

Trait	Cât de frecvent apare
Renal dysplasia	Rar (1–4%)
Short penis	Rar (1–4%)
Ureterocele	Rar (1–4%)

Abnormality of the immune system

Trait	Cât de frecvent apare
Recurrent respiratory infections	Des (30–79%)
Recurrent chest infections	Uneori (5–29%)

Abnormality of the integument

Trait	Cât de frecvent apare
Abnormal skin structure	Des (30–79%)
Absent thumbnail	Rar (1–4%)

Growth abnormality

Trait	Cât de frecvent apare
Growth delay	Des (30–79%)
Faltering weight	Rar (1–4%)

Abnormality of the cardiovascular system

Trait	Cât de frecvent apare
Hole in heart wall separating two lower heart chambers	Rar (1–4%)

Abnormality of the endocrine system

Trait	Cât de frecvent apare
Early onset of puberty	Rar (1–4%)

Constitutional symptom

Trait	Cât de frecvent apare
Coldness	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 CDKL5 and how often each is seen. Find out more at hpo.jax.org.

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