Encephalopathy due to sulfite oxidase deficiency
ORPHA:833DiseaseAutosomal recessiveAntenatal, Infancy, Neonatal
Фенотипы (HPO)21
Очень частый (80–99%)20
HP:0000293Full cheeks
HP:0000343Long philtrum
HP:0000490Deeply set eye
HP:0000545Myopia
HP:0001083Ectopia lentis
HP:0001250Seizure
HP:0001251Ataxia
HP:0001257Spasticity
HP:0001285Spastic tetraparesis
HP:0002017Nausea and vomiting
HP:0002376Developmental regression
HP:0002793Abnormal pattern of respiration
HP:0003196Short nose
HP:0003355Aminoaciduria
HP:0004374Hemiplegia/hemiparesis
HP:0008872Feeding difficulties in infancy
HP:0010864Intellectual disability, severe
HP:0011220Prominent forehead
HP:0012471Thick vermilion border
HP:0100022Abnormality of movement
Частый (30–79%)1
HP:0000252Microcephaly
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 100 | Worldwide | Case(s) |
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)