RNF13-related severe early-onset epileptic encephalopathy
ORPHA:544503DiseaseAutosomal dominantNeonatal
Ассоциированные гены1
Фенотипы (HPO)49
Частый (30–79%)27
HP:0000023Inguinal hernia
HP:0000252Microcephaly
HP:0000331Short chin
HP:0000341Narrow forehead
HP:0000407Sensorineural hearing impairment
HP:0000446Narrow nasal bridge
HP:0000496Abnormality of eye movement
HP:0000711Restlessness
HP:0000737Irritability
HP:0001250Seizure
HP:0001257Spasticity
HP:0001276Hypertonia
HP:0001371Flexion contracture
HP:0001508Failure to thrive
HP:0002079Hypoplasia of the corpus callosum
HP:0002187Intellectual disability, profound
HP:0002650Scoliosis
HP:0003196Short nose
HP:0010845EEG with generalized slow activity
HP:0011185EEG with focal epileptiform discharges
HP:0011471Gastrostomy tube feeding in infancy
HP:0011800Midface retrusion
HP:0011968Feeding difficulties
HP:0025373Interictal EEG abnormality
HP:0025405Visual fixation instability
HP:0100704Cerebral visual impairment
HP:0200134Epileptic encephalopathy
Периодический (5–29%)22
HP:0000518Cataract
HP:0000668Hypodontia
HP:0001182Tapered finger
HP:0001272Cerebellar atrophy
HP:0001290Generalized hypotonia
HP:0001382Joint hypermobility
HP:0001385Hip dysplasia
HP:0001999Abnormal facial shape
HP:0002069Bilateral tonic-clonic seizure
HP:0002098Respiratory distress
HP:0002164Nail dysplasia
HP:0002750Delayed skeletal maturation
HP:0005072Hyperextensibility at wrists
HP:0006070Metacarpophalangeal joint contracture
HP:0006094Finger joint hypermobility
HP:0007514Edema of the dorsum of hands
HP:0011432Elevated maternal circulating alpha-fetoprotein concentration
HP:0012098Edema of the dorsum of feet
HP:0012448Delayed myelination
HP:0012469Infantile spasms
HP:0040126Abnormal vitamin B12 level
HP:0100806Sepsis
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 3 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)