Xp21 deletion syndrome
ORPHA:261476DiseaseInfancy, Neonatal
Фенотипы (HPO)32
Очень частый (80–99%)15
HP:0000044Hypogonadotropic hypogonadism
HP:0001263Global developmental delay
HP:0000846Adrenal insufficiency
HP:0000939Osteoporosis
HP:0001249Intellectual disability
HP:0001257Spasticity
HP:0001319Neonatal hypotonia
HP:0001510Growth delay
HP:0001993Ketoacidosis
HP:0002017Nausea and vomiting
HP:0002155Hypertriglyceridemia
HP:0003198Myopathy
HP:0003236Elevated circulating creatine kinase concentration
HP:0004349Reduced bone mineral density
HP:0008207Primary adrenal insufficiency
Частый (30–79%)8
HP:0000232Everted lower lip vermilion
HP:0000316Hypertelorism
HP:0000486Strabismus
HP:0000565Esotropia
HP:0001289Confusion
HP:0003199Decreased muscle mass
HP:0008981Calf muscle hypertrophy
HP:0040019Finger clinodactyly
Периодический (5–29%)9
HP:0000403Recurrent otitis media
HP:0000540Hypermetropia
HP:0001250Seizure
HP:0001259Coma
HP:0001274Agenesis of corpus callosum
HP:0003738Exercise-induced myalgia
HP:0003750Increased muscle fatiguability
HP:0005949Apneic episodes in infancy
HP:0001382Joint hypermobility
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
| Cases/families | — | 100 | Worldwide | Case(s) |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)