SYNGAP1-related developmental and epileptic encephalopathy
ORPHA:544254DiseaseAutosomal dominantInfancy
Ассоциированные гены1
Фенотипы (HPO)41
Очень частый (80–99%)5
HP:0000750Delayed speech and language development
HP:0001249Intellectual disability
HP:0001263Global developmental delay
HP:0002197Generalized-onset seizure
HP:0010832Abnormality of pain sensation
Частый (30–79%)14
HP:0000708Atypical behavior
HP:0000729Autistic behavior
HP:0001251Ataxia
HP:0001252Hypotonia
HP:0001288Gait disturbance
HP:0001999Abnormal facial shape
HP:0002342Intellectual disability, moderate
HP:0002360Sleep abnormality
HP:0002370Poor coordination
HP:0002376Developmental regression
HP:0002465Poor speech
HP:0010864Intellectual disability, severe
HP:0020208Eating-induced seizure
HP:0100738Abnormal eating behavior
Периодический (5–29%)22
HP:0000047Hypospadias
HP:0000154Wide mouth
HP:0000160Narrow mouth
HP:0000218High palate
HP:0000233Thin vermilion border
HP:0000252Microcephaly
HP:0000276Long face
HP:0000325Triangular face
HP:0000400Macrotia
HP:0000490Deeply set eye
HP:0000992Cutaneous photosensitivity
HP:0001337Tremor
HP:0001344Absent speech
HP:0008770Obsessive-compulsive trait
HP:0008872Feeding difficulties in infancy
HP:0011150Myoclonic absence
HP:0012703Abnormal subarachnoid space morphology
HP:0012760Reduced social responsiveness
HP:0030810Abnormal tongue physiology
HP:0040080Anteverted ears
HP:0100023Recurrent hand flapping
HP:0100259Postaxial polydactyly
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 57 | 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)