Požymiai

Su CDKL5 susiję požymiai

cyclin dependent kinase like 5

Žmogaus fenotipo ontologija sieja 146 požymių su CDKL5, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.

CDKL5

Abnormality of the nervous system

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

Abnormality of head or neck

Požymis	Kaip dažnai pasireiškia
Broad forehead	Dažnai (30–79%)
Deep philtrum	Dažnai (30–79%)
Development of small head that was not present at birth	Dažnai (30–79%)
Drooping lower lip	Dažnai (30–79%)
Full lips	Dažnai (30–79%)
Prominent forehead	Dažnai (30–79%)
Abnormally small head	Kartais (5–29%)
High forehead	Kartais (5–29%)
Monobrow	Kartais (5–29%)
Narrow forehead	Kartais (5–29%)
Cleft palate	Retai (1–4 %)
Depressed nasal bridge	Retai (1–4 %)
Nasal tip, upturned	Retai (1–4 %)
Sloping forehead	Retai (1–4 %)
Full lower lip	Neužfiksuota
Progressively abnormally small cranium	Neužfiksuota

Abnormality of the musculoskeletal system

Požymis	Kaip dažnai pasireiškia
Functional motor deficit	Labai dažnai (80–99%)
Scoliosis	Labai dažnai (80–99%)
Abnormal muscle tone	Dažnai (30–79%)
Decreased muscle tone in infant	Dažnai (30–79%)
Generalized decreased muscle tone	Dažnai (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Dažnai (30–79%)
Low muscle tone	Dažnai (30–79%)
Poor head control	Dažnai (30–79%)
Hunched back	Kartais (5–29%)
Low muscle tone, in neonatal onset	Kartais (5–29%)

Abnormality of limbs

Požymis	Kaip dažnai pasireiškia
Broad innermost finger bones of the hand	Dažnai (30–79%)
Short foot	Dažnai (30–79%)
Small hand	Dažnai (30–79%)
Bunion	Kartais (5–29%)
Broad finger	Retai (1–4 %)
Short finger	Retai (1–4 %)
Wide toe bones	Retai (1–4 %)
Tapered finger	Neužfiksuota

Abnormality of the digestive system

Požymis	Kaip dažnai pasireiškia
Feeding difficulties	Labai dažnai (80–99%)
Acid reflux	Dažnai (30–79%)
Constipation	Dažnai (30–79%)
Functional abnormality of the gastrointestinal tract	Dažnai (30–79%)
Gastrostomy tube feeding in infancy	Dažnai (30–79%)
Poor suck	Dažnai (30–79%)
Poor swallowing	Dažnai (30–79%)
Umbilical hernia	Retai (1–4 %)

Abnormality of the eye

Požymis	Kaip dažnai pasireiškia
Cerebral visual impairment	Dažnai (30–79%)
Deeply set eye	Dažnai (30–79%)
Inward turning cross eyed	Kartais (5–29%)
Outward facing eye ball	Kartais (5–29%)
Cross-eyed	Retai (1–4 %)
Total ophthalmoplegia	Neužfiksuota

Abnormality of the respiratory system

Požymis	Kaip dažnai pasireiškia
Abnormal pattern of respiration	Labai dažnai (80–99%)
Episodic tachypnea	Dažnai (30–79%)
Sudden episodic apnea	Dažnai (30–79%)
Apnea	Kartais (5–29%)
Rapid breathing	Kartais (5–29%)

Abnormality of the genitourinary system

Požymis	Kaip dažnai pasireiškia
Renal dysplasia	Retai (1–4 %)
Short penis	Retai (1–4 %)
Ureterocele	Retai (1–4 %)

Abnormality of the immune system

Požymis	Kaip dažnai pasireiškia
Recurrent respiratory infections	Dažnai (30–79%)
Recurrent chest infections	Kartais (5–29%)

Abnormality of the integument

Požymis	Kaip dažnai pasireiškia
Abnormal skin structure	Dažnai (30–79%)
Absent thumbnail	Retai (1–4 %)

Growth abnormality

Požymis	Kaip dažnai pasireiškia
Growth delay	Dažnai (30–79%)
Faltering weight	Retai (1–4 %)

Abnormality of the cardiovascular system

Požymis	Kaip dažnai pasireiškia
Hole in heart wall separating two lower heart chambers	Retai (1–4 %)

Abnormality of the endocrine system

Požymis	Kaip dažnai pasireiškia
Early onset of puberty	Retai (1–4 %)

Constitutional symptom

Požymis	Kaip dažnai pasireiškia
Coldness	Dažnai (30–79%)

Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.

Iš kur tai žinoma

Žmogaus fenotipo ontologija, 2026-09-01 leidimas: su CDKL5 susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.

Vienas testas. Atsakymai visam gyvenimui.

Nuo 449 $Nemokamas pristatymas · Rezultatai per 6–8 savaites

Įsigyti savo Genome Test