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

Abnormality of head or neck

Trait	Kuinka usein sitä esiintyy
Broad forehead	Usein (30–79%)
Deep philtrum	Usein (30–79%)
Development of small head that was not present at birth	Usein (30–79%)
Drooping lower lip	Usein (30–79%)
Full lips	Usein (30–79%)
Prominent forehead	Usein (30–79%)
Abnormally small head	Joskus (5–29%)
High forehead	Joskus (5–29%)
Monobrow	Joskus (5–29%)
Narrow forehead	Joskus (5–29%)
Cleft palate	Harvinainen (1–4 %)
Depressed nasal bridge	Harvinainen (1–4 %)
Nasal tip, upturned	Harvinainen (1–4 %)
Sloping forehead	Harvinainen (1–4 %)
Full lower lip	Ei kirjattu
Progressively abnormally small cranium	Ei kirjattu

Abnormality of the musculoskeletal system

Trait	Kuinka usein sitä esiintyy
Functional motor deficit	Hyvin usein (80–99%)
Scoliosis	Hyvin usein (80–99%)
Abnormal muscle tone	Usein (30–79%)
Decreased muscle tone in infant	Usein (30–79%)
Generalized decreased muscle tone	Usein (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Usein (30–79%)
Low muscle tone	Usein (30–79%)
Poor head control	Usein (30–79%)
Hunched back	Joskus (5–29%)
Low muscle tone, in neonatal onset	Joskus (5–29%)

Abnormality of limbs

Trait	Kuinka usein sitä esiintyy
Broad innermost finger bones of the hand	Usein (30–79%)
Short foot	Usein (30–79%)
Small hand	Usein (30–79%)
Bunion	Joskus (5–29%)
Broad finger	Harvinainen (1–4 %)
Short finger	Harvinainen (1–4 %)
Wide toe bones	Harvinainen (1–4 %)
Tapered finger	Ei kirjattu

Abnormality of the digestive system

Trait	Kuinka usein sitä esiintyy
Feeding difficulties	Hyvin usein (80–99%)
Acid reflux	Usein (30–79%)
Constipation	Usein (30–79%)
Functional abnormality of the gastrointestinal tract	Usein (30–79%)
Gastrostomy tube feeding in infancy	Usein (30–79%)
Poor suck	Usein (30–79%)
Poor swallowing	Usein (30–79%)
Umbilical hernia	Harvinainen (1–4 %)

Abnormality of the eye

Trait	Kuinka usein sitä esiintyy
Cerebral visual impairment	Usein (30–79%)
Deeply set eye	Usein (30–79%)
Inward turning cross eyed	Joskus (5–29%)
Outward facing eye ball	Joskus (5–29%)
Cross-eyed	Harvinainen (1–4 %)
Total ophthalmoplegia	Ei kirjattu

Abnormality of the respiratory system

Trait	Kuinka usein sitä esiintyy
Abnormal pattern of respiration	Hyvin usein (80–99%)
Episodic tachypnea	Usein (30–79%)
Sudden episodic apnea	Usein (30–79%)
Apnea	Joskus (5–29%)
Rapid breathing	Joskus (5–29%)

Abnormality of the genitourinary system

Trait	Kuinka usein sitä esiintyy
Renal dysplasia	Harvinainen (1–4 %)
Short penis	Harvinainen (1–4 %)
Ureterocele	Harvinainen (1–4 %)

Abnormality of the immune system

Trait	Kuinka usein sitä esiintyy
Recurrent respiratory infections	Usein (30–79%)
Recurrent chest infections	Joskus (5–29%)

Abnormality of the integument

Trait	Kuinka usein sitä esiintyy
Abnormal skin structure	Usein (30–79%)
Absent thumbnail	Harvinainen (1–4 %)

Growth abnormality

Trait	Kuinka usein sitä esiintyy
Growth delay	Usein (30–79%)
Faltering weight	Harvinainen (1–4 %)

Abnormality of the cardiovascular system

Trait	Kuinka usein sitä esiintyy
Hole in heart wall separating two lower heart chambers	Harvinainen (1–4 %)

Abnormality of the endocrine system

Trait	Kuinka usein sitä esiintyy
Early onset of puberty	Harvinainen (1–4 %)

Constitutional symptom

Trait	Kuinka usein sitä esiintyy
Coldness	Usein (30–79%)

Kuinka usein ilmiö esiintyy ihmisillä, joilla on jokin geenin sairauksista, niin kuin Human Phenotype Ontology sen kirjaa. Nämä sivut kuvaavat piirteitä ja niiden taustalla olevaa tutkimusta, eivätkä ne ole diagnoosi. Oireista kannattaa kysyä lääkäriltä tai geneettiseltä neuvojalta.

Mistä tämä tieto tulee

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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