Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
ORPHA:289266DiseaseAutosomal dominantChildhood
Ассоциированные гены1
Фенотипы (HPO)29
Частый (30–79%)8
HP:0000708Atypical behavior
HP:0001328Specific learning disability
HP:0002069Bilateral tonic-clonic seizure
HP:0002421Poor head control
HP:0008947Floppy infant
HP:0010844EEG with multifocal slow activity
HP:0010864Intellectual disability, severe
HP:0012736Profound global developmental delay
Периодический (5–29%)21
HP:0001265Hyporeflexia
HP:0001276Hypertonia
HP:0001336Myoclonus
HP:0001518Small for gestational age
HP:0001761Pes cavus
HP:0001999Abnormal facial shape
HP:0002079Hypoplasia of the corpus callosum
HP:0002342Intellectual disability, moderate
HP:0002373Febrile seizure (within the age range of 3 months to 6 years)
HP:0002506Diffuse cerebral atrophy
HP:0003196Short nose
HP:0004322Short stature
HP:0005484Secondary microcephaly
HP:0007359Focal-onset seizure
HP:0008936Axial hypotonia
HP:0010818Generalized tonic seizure
HP:0011097Epileptic spasm
HP:0011451Congenital microcephaly
HP:0012171Stereotypical hand wringing
HP:0012447Abnormal myelination
HP:0012547Abnormal involuntary eye movements
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)