CDKL5-deficiency disorder
ORPHA:505652DiseaseX-linked dominantInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)52
Очень частый (80–99%)1
HP:0010818Generalized tonic seizure
Частый (30–79%)36
HP:0000232Everted lower lip vermilion
HP:0000337Broad forehead
HP:0000490Deeply set eye
HP:0000729Autistic behavior
HP:0000750Delayed speech and language development
HP:0000817Reduced eye contact
HP:0001249Intellectual disability
HP:0001252Hypotonia
HP:0001288Gait disturbance
HP:0001510Growth delay
HP:0002002Deep philtrum
HP:0002019Constipation
HP:0002020Gastroesophageal reflux
HP:0002069Bilateral tonic-clonic seizure
HP:0002194Delayed gross motor development
HP:0002421Poor head control
HP:0002521Hypsarrhythmia
HP:0003763Bruxism
HP:0003808Abnormal muscle tone
HP:0006979Sleep-wake cycle disturbance
HP:0007328Impaired pain sensation
HP:0007359Focal-onset seizure
HP:0009852Broad proximal phalanges of the hand
HP:0010841Multifocal epileptiform discharges
HP:0011220Prominent forehead
HP:0011343Moderate global developmental delay
HP:0011344Severe global developmental delay
HP:0011471Gastrostomy tube feeding in infancy
HP:0011968Feeding difficulties
HP:0012171Stereotypical hand wringing
HP:0012469Infantile spasms
HP:0012471Thick vermilion border
HP:0032794Myoclonic seizure
HP:0033850Coldness
HP:0100704Cerebral visual impairment
HP:5200061Tactile hypersensitivity
Периодический (5–29%)15
HP:0000252Microcephaly
HP:0000341Narrow forehead
HP:0000348High forehead
HP:0000565Esotropia
HP:0000577Exotropia
HP:0000664Synophrys
HP:0000749Paroxysmal bursts of laughter
HP:0001332Dystonia
HP:0001822Hallux valgus
HP:0002072Chorea
HP:0002104Apnea
HP:0002650Scoliosis
HP:0002783Recurrent lower respiratory tract infections
HP:0002808Kyphosis
HP:0002883Hyperventilation
Эпидемиология4
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
| Prevalence at birth | 1-9 / 1 000 000 | 0.21 | Australia | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 2.36 | United Kingdom | Value and class |
| Prevalence at birth | 1-9 / 100 000 | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)