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

Abnormality of head or neck

Trait	Hoe vaak het voorkomt
Broad forehead	Vaak (30–79%)
Deep philtrum	Vaak (30–79%)
Development of small head that was not present at birth	Vaak (30–79%)
Drooping lower lip	Vaak (30–79%)
Full lips	Vaak (30–79%)
Prominent forehead	Vaak (30–79%)
Abnormally small head	Soms (5–29%)
High forehead	Soms (5–29%)
Monobrow	Soms (5–29%)
Narrow forehead	Soms (5–29%)
Cleft palate	Zelden (1–4%)
Depressed nasal bridge	Zelden (1–4%)
Nasal tip, upturned	Zelden (1–4%)
Sloping forehead	Zelden (1–4%)
Full lower lip	Niet vastgelegd
Progressively abnormally small cranium	Niet vastgelegd

Abnormality of the musculoskeletal system

Trait	Hoe vaak het voorkomt
Functional motor deficit	Heel vaak (80–99%)
Scoliosis	Heel vaak (80–99%)
Abnormal muscle tone	Vaak (30–79%)
Decreased muscle tone in infant	Vaak (30–79%)
Generalized decreased muscle tone	Vaak (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Vaak (30–79%)
Low muscle tone	Vaak (30–79%)
Poor head control	Vaak (30–79%)
Hunched back	Soms (5–29%)
Low muscle tone, in neonatal onset	Soms (5–29%)

Abnormality of limbs

Trait	Hoe vaak het voorkomt
Broad innermost finger bones of the hand	Vaak (30–79%)
Short foot	Vaak (30–79%)
Small hand	Vaak (30–79%)
Bunion	Soms (5–29%)
Broad finger	Zelden (1–4%)
Short finger	Zelden (1–4%)
Wide toe bones	Zelden (1–4%)
Tapered finger	Niet vastgelegd

Abnormality of the digestive system

Trait	Hoe vaak het voorkomt
Feeding difficulties	Heel vaak (80–99%)
Acid reflux	Vaak (30–79%)
Constipation	Vaak (30–79%)
Functional abnormality of the gastrointestinal tract	Vaak (30–79%)
Gastrostomy tube feeding in infancy	Vaak (30–79%)
Poor suck	Vaak (30–79%)
Poor swallowing	Vaak (30–79%)
Umbilical hernia	Zelden (1–4%)

Abnormality of the eye

Trait	Hoe vaak het voorkomt
Cerebral visual impairment	Vaak (30–79%)
Deeply set eye	Vaak (30–79%)
Inward turning cross eyed	Soms (5–29%)
Outward facing eye ball	Soms (5–29%)
Cross-eyed	Zelden (1–4%)
Total ophthalmoplegia	Niet vastgelegd

Abnormality of the respiratory system

Trait	Hoe vaak het voorkomt
Abnormal pattern of respiration	Heel vaak (80–99%)
Episodic tachypnea	Vaak (30–79%)
Sudden episodic apnea	Vaak (30–79%)
Apnea	Soms (5–29%)
Rapid breathing	Soms (5–29%)

Abnormality of the genitourinary system

Trait	Hoe vaak het voorkomt
Renal dysplasia	Zelden (1–4%)
Short penis	Zelden (1–4%)
Ureterocele	Zelden (1–4%)

Abnormality of the immune system

Trait	Hoe vaak het voorkomt
Recurrent respiratory infections	Vaak (30–79%)
Recurrent chest infections	Soms (5–29%)

Abnormality of the integument

Trait	Hoe vaak het voorkomt
Abnormal skin structure	Vaak (30–79%)
Absent thumbnail	Zelden (1–4%)

Growth abnormality

Trait	Hoe vaak het voorkomt
Growth delay	Vaak (30–79%)
Faltering weight	Zelden (1–4%)

Abnormality of the cardiovascular system

Trait	Hoe vaak het voorkomt
Hole in heart wall separating two lower heart chambers	Zelden (1–4%)

Abnormality of the endocrine system

Trait	Hoe vaak het voorkomt
Early onset of puberty	Zelden (1–4%)

Constitutional symptom

Trait	Hoe vaak het voorkomt
Coldness	Vaak (30–79%)

Hoe vaak dit voorkomt bij mensen met een van de aandoeningen van het gen, de hoogste frequentie binnen die aandoeningen, zoals de Human Phenotype Ontology dit vastlegt. Deze pagina's beschrijven kenmerken en het onderzoek erachter; het zijn geen diagnose, en over symptomen kunt u het best een arts of genetisch adviseur raadplegen.

Waar dit vandaan komt

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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