X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome
ORPHA:324410DiseaseX-linked recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)30
Частый (30–79%)11
HP:0000396Overfolded helix
HP:0000400Macrotia
HP:0001172Abnormal thumb morphology
HP:0001250Seizure
HP:0001263Global developmental delay
HP:0001344Absent speech
HP:0001635Congestive heart failure
HP:0001640Cardiomegaly
HP:0002187Intellectual disability, profound
HP:0005781Contractures of the large joints
HP:0006705Abnormal atrioventricular valve morphology
Периодический (5–29%)19
HP:0000053Macroorchidism
HP:0000232Everted lower lip vermilion
HP:0000280Coarse facial features
HP:0000303Mandibular prognathia
HP:0000319Smooth philtrum
HP:0000414Bulbous nose
HP:0000426Prominent nasal bridge
HP:0001634Mitral valve prolapse
HP:0001650Aortic valve stenosis
HP:0001653Mitral regurgitation
HP:0002465Poor speech
HP:0002510Spastic tetraplegia
HP:0002540Inability to walk
HP:0002751Kyphoscoliosis
HP:0003376Steppage gait
HP:0004749Atrial flutter
HP:0005180Tricuspid regurgitation
HP:0005280Depressed nasal bridge
HP:0010808Protruding tongue
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 2 | 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)