CNTNAP2-related developmental and epileptic encephalopathy
ORPHA:163681DiseaseAutosomal recessiveInfancy
Ассоциированные гены1
Фенотипы (HPO)49
Очень частый (80–99%)6
HP:0000750Delayed speech and language development
HP:0001250Seizure
HP:0002269Abnormality of neuronal migration
HP:0007359Focal-onset seizure
HP:0012757Abnormal neuron morphology
HP:0031936Delayed ability to walk
Частый (30–79%)11
HP:0001263Global developmental delay
HP:0001268Mental deterioration
HP:0001270Motor delay
HP:0002465Poor speech
HP:0007064Progressive language deterioration
HP:0007334Bilateral tonic-clonic seizure with focal onset
HP:0010845EEG with generalized slow activity
HP:0010864Intellectual disability, severe
HP:0011182Interictal epileptiform activity
HP:0011198EEG with generalized epileptiform discharges
HP:0012001EEG with generalized polyspikes
Периодический (5–29%)32
HP:0000316Hypertelorism
HP:0000494Downslanted palpebral fissures
HP:0000639Nystagmus
HP:0000708Atypical behavior
HP:0000717Autism
HP:0000718Aggressive behavior
HP:0000742Self-mutilation
HP:0000744Low frustration tolerance
HP:0000752Hyperactivity
HP:0000817Reduced eye contact
HP:0000826Precocious puberty
HP:0001251Ataxia
HP:0001252Hypotonia
HP:0001265Hyporeflexia
HP:0001284Areflexia
HP:0001344Absent speech
HP:0001513Obesity
HP:0001761Pes cavus
HP:0002061Lower limb spasticity
HP:0002240Hepatomegaly
HP:0002342Intellectual disability, moderate
HP:0004879Intermittent hyperventilation
HP:0006855Cerebellar vermis atrophy
HP:0006970Periventricular leukomalacia
HP:0010863Receptive language delay
HP:0011193EEG with focal spikes
HP:0011968Feeding difficulties
HP:0012166Skin-picking
HP:0012171Stereotypical hand wringing
HP:0025160Abnormal temper tantrums
HP:0100021Cerebral palsy
HP:0100258Preaxial polydactyly
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
| Cases/families | — | 28 | Worldwide | Case(s) |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)