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

Abnormality of head or neck

Trait	Ne sıklıkla görüldüğü
Broad forehead	Sık (%30–79)
Deep philtrum	Sık (%30–79)
Development of small head that was not present at birth	Sık (%30–79)
Drooping lower lip	Sık (%30–79)
Full lips	Sık (%30–79)
Prominent forehead	Sık (%30–79)
Abnormally small head	Bazen (%5–29)
High forehead	Bazen (%5–29)
Monobrow	Bazen (%5–29)
Narrow forehead	Bazen (%5–29)
Cleft palate	Seyrek (%1–4)
Depressed nasal bridge	Seyrek (%1–4)
Nasal tip, upturned	Seyrek (%1–4)
Sloping forehead	Seyrek (%1–4)
Full lower lip	Kaydedilmedi
Progressively abnormally small cranium	Kaydedilmedi

Abnormality of the musculoskeletal system

Trait	Ne sıklıkla görüldüğü
Functional motor deficit	Çok sık (%80–99)
Scoliosis	Çok sık (%80–99)
Abnormal muscle tone	Sık (%30–79)
Decreased muscle tone in infant	Sık (%30–79)
Generalized decreased muscle tone	Sık (%30–79)
Involuntary muscle stiffness, contraction, or spasm	Sık (%30–79)
Low muscle tone	Sık (%30–79)
Poor head control	Sık (%30–79)
Hunched back	Bazen (%5–29)
Low muscle tone, in neonatal onset	Bazen (%5–29)

Abnormality of limbs

Trait	Ne sıklıkla görüldüğü
Broad innermost finger bones of the hand	Sık (%30–79)
Short foot	Sık (%30–79)
Small hand	Sık (%30–79)
Bunion	Bazen (%5–29)
Broad finger	Seyrek (%1–4)
Short finger	Seyrek (%1–4)
Wide toe bones	Seyrek (%1–4)
Tapered finger	Kaydedilmedi

Abnormality of the digestive system

Trait	Ne sıklıkla görüldüğü
Feeding difficulties	Çok sık (%80–99)
Acid reflux	Sık (%30–79)
Constipation	Sık (%30–79)
Functional abnormality of the gastrointestinal tract	Sık (%30–79)
Gastrostomy tube feeding in infancy	Sık (%30–79)
Poor suck	Sık (%30–79)
Poor swallowing	Sık (%30–79)
Umbilical hernia	Seyrek (%1–4)

Abnormality of the eye

Trait	Ne sıklıkla görüldüğü
Cerebral visual impairment	Sık (%30–79)
Deeply set eye	Sık (%30–79)
Inward turning cross eyed	Bazen (%5–29)
Outward facing eye ball	Bazen (%5–29)
Cross-eyed	Seyrek (%1–4)
Total ophthalmoplegia	Kaydedilmedi

Abnormality of the respiratory system

Trait	Ne sıklıkla görüldüğü
Abnormal pattern of respiration	Çok sık (%80–99)
Episodic tachypnea	Sık (%30–79)
Sudden episodic apnea	Sık (%30–79)
Apnea	Bazen (%5–29)
Rapid breathing	Bazen (%5–29)

Abnormality of the genitourinary system

Trait	Ne sıklıkla görüldüğü
Renal dysplasia	Seyrek (%1–4)
Short penis	Seyrek (%1–4)
Ureterocele	Seyrek (%1–4)

Abnormality of the immune system

Trait	Ne sıklıkla görüldüğü
Recurrent respiratory infections	Sık (%30–79)
Recurrent chest infections	Bazen (%5–29)

Abnormality of the integument

Trait	Ne sıklıkla görüldüğü
Abnormal skin structure	Sık (%30–79)
Absent thumbnail	Seyrek (%1–4)

Growth abnormality

Trait	Ne sıklıkla görüldüğü
Growth delay	Sık (%30–79)
Faltering weight	Seyrek (%1–4)

Abnormality of the cardiovascular system

Trait	Ne sıklıkla görüldüğü
Hole in heart wall separating two lower heart chambers	Seyrek (%1–4)

Abnormality of the endocrine system

Trait	Ne sıklıkla görüldüğü
Early onset of puberty	Seyrek (%1–4)

Constitutional symptom

Trait	Ne sıklıkla görüldüğü
Coldness	Sık (%30–79)

Bu özelliğin, genin ilişkili olduğu durumlardan birine sahip kişiler arasında ne sıklıkta görüldüğü; Human Phenotype Ontology'nin kaydettiği şekliyle, bunlar arasında en sık görülen oran. Bu sayfalar özellikleri ve bunların arkasındaki araştırmaları anlatır; tanı koymaz. Belirtiler hakkında bir doktora veya genetik danışmana başvurmanız gerekir.

Bilgilerin kaynağı

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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