Seizures-scoliosis-macrocephaly syndrome
ORPHA:466926DiseaseAutosomal recessiveInfancy
Ассоциированные гены1
Фенотипы (HPO)31
Очень частый (80–99%)4
HP:0000750Delayed speech and language development
HP:0001250Seizure
HP:0001263Global developmental delay
HP:0004349Reduced bone mineral density
Частый (30–79%)19
HP:0000028Cryptorchidism
HP:0000077Abnormality of the kidney
HP:0000256Macrocephaly
HP:0000316Hypertelorism
HP:0000343Long philtrum
HP:0000356Abnormality of the outer ear
HP:0000414Bulbous nose
HP:0000717Autism
HP:0000951Abnormality of the skin
HP:0001252Hypotonia
HP:0001256Intellectual disability, mild
HP:0001845Overlapping toe
HP:0002018Nausea
HP:0002019Constipation
HP:0002020Gastroesophageal reflux
HP:0002136Broad-based gait
HP:0002342Intellectual disability, moderate
HP:0002650Scoliosis
HP:0030680Abnormal cardiovascular system morphology
Периодический (5–29%)8
HP:0000252Microcephaly
HP:0000348High forehead
HP:0001561Polyhydramnios
HP:0001631Atrial septal defect
HP:0004425Flat forehead
HP:0010864Intellectual disability, severe
HP:0011220Prominent forehead
HP:0100777Exostoses
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 10 | 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)