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

Abnormality of head or neck

Trait	Hvor ofte det ses
Broad forehead	Ofte (30–79 %)
Deep philtrum	Ofte (30–79 %)
Development of small head that was not present at birth	Ofte (30–79 %)
Drooping lower lip	Ofte (30–79 %)
Full lips	Ofte (30–79 %)
Prominent forehead	Ofte (30–79 %)
Abnormally small head	Nogle gange (5–29 %)
High forehead	Nogle gange (5–29 %)
Monobrow	Nogle gange (5–29 %)
Narrow forehead	Nogle gange (5–29 %)
Cleft palate	Sjældent (1–4%)
Depressed nasal bridge	Sjældent (1–4%)
Nasal tip, upturned	Sjældent (1–4%)
Sloping forehead	Sjældent (1–4%)
Full lower lip	Ikke registreret
Progressively abnormally small cranium	Ikke registreret

Abnormality of the musculoskeletal system

Trait	Hvor ofte det ses
Functional motor deficit	Meget ofte (80–99 %)
Scoliosis	Meget ofte (80–99 %)
Abnormal muscle tone	Ofte (30–79 %)
Decreased muscle tone in infant	Ofte (30–79 %)
Generalized decreased muscle tone	Ofte (30–79 %)
Involuntary muscle stiffness, contraction, or spasm	Ofte (30–79 %)
Low muscle tone	Ofte (30–79 %)
Poor head control	Ofte (30–79 %)
Hunched back	Nogle gange (5–29 %)
Low muscle tone, in neonatal onset	Nogle gange (5–29 %)

Abnormality of limbs

Trait	Hvor ofte det ses
Broad innermost finger bones of the hand	Ofte (30–79 %)
Short foot	Ofte (30–79 %)
Small hand	Ofte (30–79 %)
Bunion	Nogle gange (5–29 %)
Broad finger	Sjældent (1–4%)
Short finger	Sjældent (1–4%)
Wide toe bones	Sjældent (1–4%)
Tapered finger	Ikke registreret

Abnormality of the digestive system

Trait	Hvor ofte det ses
Feeding difficulties	Meget ofte (80–99 %)
Acid reflux	Ofte (30–79 %)
Constipation	Ofte (30–79 %)
Functional abnormality of the gastrointestinal tract	Ofte (30–79 %)
Gastrostomy tube feeding in infancy	Ofte (30–79 %)
Poor suck	Ofte (30–79 %)
Poor swallowing	Ofte (30–79 %)
Umbilical hernia	Sjældent (1–4%)

Abnormality of the eye

Trait	Hvor ofte det ses
Cerebral visual impairment	Ofte (30–79 %)
Deeply set eye	Ofte (30–79 %)
Inward turning cross eyed	Nogle gange (5–29 %)
Outward facing eye ball	Nogle gange (5–29 %)
Cross-eyed	Sjældent (1–4%)
Total ophthalmoplegia	Ikke registreret

Abnormality of the respiratory system

Trait	Hvor ofte det ses
Abnormal pattern of respiration	Meget ofte (80–99 %)
Episodic tachypnea	Ofte (30–79 %)
Sudden episodic apnea	Ofte (30–79 %)
Apnea	Nogle gange (5–29 %)
Rapid breathing	Nogle gange (5–29 %)

Abnormality of the genitourinary system

Trait	Hvor ofte det ses
Renal dysplasia	Sjældent (1–4%)
Short penis	Sjældent (1–4%)
Ureterocele	Sjældent (1–4%)

Abnormality of the immune system

Trait	Hvor ofte det ses
Recurrent respiratory infections	Ofte (30–79 %)
Recurrent chest infections	Nogle gange (5–29 %)

Abnormality of the integument

Trait	Hvor ofte det ses
Abnormal skin structure	Ofte (30–79 %)
Absent thumbnail	Sjældent (1–4%)

Growth abnormality

Trait	Hvor ofte det ses
Growth delay	Ofte (30–79 %)
Faltering weight	Sjældent (1–4%)

Abnormality of the cardiovascular system

Trait	Hvor ofte det ses
Hole in heart wall separating two lower heart chambers	Sjældent (1–4%)

Abnormality of the endocrine system

Trait	Hvor ofte det ses
Early onset of puberty	Sjældent (1–4%)

Constitutional symptom

Trait	Hvor ofte det ses
Coldness	Ofte (30–79 %)

Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.

Hvor oplysningerne kommer fra

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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