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

Abnormality of head or neck

Trait	나타나는 빈도
Broad forehead	자주 (30–79%)
Deep philtrum	자주 (30–79%)
Development of small head that was not present at birth	자주 (30–79%)
Drooping lower lip	자주 (30–79%)
Full lips	자주 (30–79%)
Prominent forehead	자주 (30–79%)
Abnormally small head	가끔 (5–29%)
High forehead	가끔 (5–29%)
Monobrow	가끔 (5–29%)
Narrow forehead	가끔 (5–29%)
Cleft palate	드물게 (1–4%)
Depressed nasal bridge	드물게 (1–4%)
Nasal tip, upturned	드물게 (1–4%)
Sloping forehead	드물게 (1–4%)
Full lower lip	기록되지 않음
Progressively abnormally small cranium	기록되지 않음

Abnormality of the musculoskeletal system

Trait	나타나는 빈도
Functional motor deficit	매우 자주 (80–99%)
Scoliosis	매우 자주 (80–99%)
Abnormal muscle tone	자주 (30–79%)
Decreased muscle tone in infant	자주 (30–79%)
Generalized decreased muscle tone	자주 (30–79%)
Involuntary muscle stiffness, contraction, or spasm	자주 (30–79%)
Low muscle tone	자주 (30–79%)
Poor head control	자주 (30–79%)
Hunched back	가끔 (5–29%)
Low muscle tone, in neonatal onset	가끔 (5–29%)

Abnormality of limbs

Trait	나타나는 빈도
Broad innermost finger bones of the hand	자주 (30–79%)
Short foot	자주 (30–79%)
Small hand	자주 (30–79%)
Bunion	가끔 (5–29%)
Broad finger	드물게 (1–4%)
Short finger	드물게 (1–4%)
Wide toe bones	드물게 (1–4%)
Tapered finger	기록되지 않음

Abnormality of the digestive system

Trait	나타나는 빈도
Feeding difficulties	매우 자주 (80–99%)
Acid reflux	자주 (30–79%)
Constipation	자주 (30–79%)
Functional abnormality of the gastrointestinal tract	자주 (30–79%)
Gastrostomy tube feeding in infancy	자주 (30–79%)
Poor suck	자주 (30–79%)
Poor swallowing	자주 (30–79%)
Umbilical hernia	드물게 (1–4%)

Abnormality of the eye

Trait	나타나는 빈도
Cerebral visual impairment	자주 (30–79%)
Deeply set eye	자주 (30–79%)
Inward turning cross eyed	가끔 (5–29%)
Outward facing eye ball	가끔 (5–29%)
Cross-eyed	드물게 (1–4%)
Total ophthalmoplegia	기록되지 않음

Abnormality of the respiratory system

Trait	나타나는 빈도
Abnormal pattern of respiration	매우 자주 (80–99%)
Episodic tachypnea	자주 (30–79%)
Sudden episodic apnea	자주 (30–79%)
Apnea	가끔 (5–29%)
Rapid breathing	가끔 (5–29%)

Abnormality of the genitourinary system

Trait	나타나는 빈도
Renal dysplasia	드물게 (1–4%)
Short penis	드물게 (1–4%)
Ureterocele	드물게 (1–4%)

Abnormality of the immune system

Trait	나타나는 빈도
Recurrent respiratory infections	자주 (30–79%)
Recurrent chest infections	가끔 (5–29%)

Abnormality of the integument

Trait	나타나는 빈도
Abnormal skin structure	자주 (30–79%)
Absent thumbnail	드물게 (1–4%)

Growth abnormality

Trait	나타나는 빈도
Growth delay	자주 (30–79%)
Faltering weight	드물게 (1–4%)

Abnormality of the cardiovascular system

Trait	나타나는 빈도
Hole in heart wall separating two lower heart chambers	드물게 (1–4%)

Abnormality of the endocrine system

Trait	나타나는 빈도
Early onset of puberty	드물게 (1–4%)

Constitutional symptom

Trait	나타나는 빈도
Coldness	자주 (30–79%)

Human Phenotype Ontology가 기록한, 해당 유전자와 관련된 질환을 가진 사람들 가운데 이 특징이 나타나는 빈도입니다. 이 페이지는 특징과 그 바탕이 되는 연구를 설명하며, 진단이 아닙니다. 증상에 대해서는 의사나 유전 상담사에게 문의하시기 바랍니다.

출처

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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