Tunnused

Geeniga CDKL5 seotud tunnused

cyclin dependent kinase like 5

Inimese fenotüübi ontoloogia seostab geeniga CDKL5 146 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

Abnormality of the nervous system

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

Abnormality of head or neck

Tunnus	Kui sageli seda täheldatakse
Broad forehead	Sageli (30–79%)
Deep philtrum	Sageli (30–79%)
Development of small head that was not present at birth	Sageli (30–79%)
Drooping lower lip	Sageli (30–79%)
Full lips	Sageli (30–79%)
Prominent forehead	Sageli (30–79%)
Abnormally small head	Mõnikord (5–29%)
High forehead	Mõnikord (5–29%)
Monobrow	Mõnikord (5–29%)
Narrow forehead	Mõnikord (5–29%)
Cleft palate	Harva (1–4%)
Depressed nasal bridge	Harva (1–4%)
Nasal tip, upturned	Harva (1–4%)
Sloping forehead	Harva (1–4%)
Full lower lip	Pole registreeritud
Progressively abnormally small cranium	Pole registreeritud

Abnormality of the musculoskeletal system

Tunnus	Kui sageli seda täheldatakse
Functional motor deficit	Väga sageli (80–99%)
Scoliosis	Väga sageli (80–99%)
Abnormal muscle tone	Sageli (30–79%)
Decreased muscle tone in infant	Sageli (30–79%)
Generalized decreased muscle tone	Sageli (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Sageli (30–79%)
Low muscle tone	Sageli (30–79%)
Poor head control	Sageli (30–79%)
Hunched back	Mõnikord (5–29%)
Low muscle tone, in neonatal onset	Mõnikord (5–29%)

Abnormality of limbs

Tunnus	Kui sageli seda täheldatakse
Broad innermost finger bones of the hand	Sageli (30–79%)
Short foot	Sageli (30–79%)
Small hand	Sageli (30–79%)
Bunion	Mõnikord (5–29%)
Broad finger	Harva (1–4%)
Short finger	Harva (1–4%)
Wide toe bones	Harva (1–4%)
Tapered finger	Pole registreeritud

Abnormality of the digestive system

Tunnus	Kui sageli seda täheldatakse
Feeding difficulties	Väga sageli (80–99%)
Acid reflux	Sageli (30–79%)
Constipation	Sageli (30–79%)
Functional abnormality of the gastrointestinal tract	Sageli (30–79%)
Gastrostomy tube feeding in infancy	Sageli (30–79%)
Poor suck	Sageli (30–79%)
Poor swallowing	Sageli (30–79%)
Umbilical hernia	Harva (1–4%)

Abnormality of the eye

Tunnus	Kui sageli seda täheldatakse
Cerebral visual impairment	Sageli (30–79%)
Deeply set eye	Sageli (30–79%)
Inward turning cross eyed	Mõnikord (5–29%)
Outward facing eye ball	Mõnikord (5–29%)
Cross-eyed	Harva (1–4%)
Total ophthalmoplegia	Pole registreeritud

Abnormality of the respiratory system

Tunnus	Kui sageli seda täheldatakse
Abnormal pattern of respiration	Väga sageli (80–99%)
Episodic tachypnea	Sageli (30–79%)
Sudden episodic apnea	Sageli (30–79%)
Apnea	Mõnikord (5–29%)
Rapid breathing	Mõnikord (5–29%)

Abnormality of the genitourinary system

Tunnus	Kui sageli seda täheldatakse
Renal dysplasia	Harva (1–4%)
Short penis	Harva (1–4%)
Ureterocele	Harva (1–4%)

Abnormality of the immune system

Tunnus	Kui sageli seda täheldatakse
Recurrent respiratory infections	Sageli (30–79%)
Recurrent chest infections	Mõnikord (5–29%)

Abnormality of the integument

Tunnus	Kui sageli seda täheldatakse
Abnormal skin structure	Sageli (30–79%)
Absent thumbnail	Harva (1–4%)

Growth abnormality

Tunnus	Kui sageli seda täheldatakse
Growth delay	Sageli (30–79%)
Faltering weight	Harva (1–4%)

Abnormality of the cardiovascular system

Tunnus	Kui sageli seda täheldatakse
Hole in heart wall separating two lower heart chambers	Harva (1–4%)

Abnormality of the endocrine system

Tunnus	Kui sageli seda täheldatakse
Early onset of puberty	Harva (1–4%)

Constitutional symptom

Tunnus	Kui sageli seda täheldatakse
Coldness	Sageli (30–79%)

Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.

Allikas

Inimese fenotüübi ontoloogia, versioon 2026-09-01: geeniga CDKL5 seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

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