Radioulnar synostosis-developmental delay-hypotonia syndrome
ORPHA:3270Malformation syndromeUnknownNeonatal
Фенотипы (HPO)20
Очень частый (80–99%)17
HP:0000174Abnormal palate morphology
HP:0000256Macrocephaly
HP:0000268Dolichocephaly
HP:0000275Narrow face
HP:0000364Hearing abnormality
HP:0000411Protruding ear
HP:0000426Prominent nasal bridge
HP:0000448Prominent nose
HP:0000486Strabismus
HP:0000767Pectus excavatum
HP:0001252Hypotonia
HP:0001263Global developmental delay
HP:0001288Gait disturbance
HP:0002167Abnormality of speech or vocalization
HP:0002974Radioulnar synostosis
HP:0003011Abnormality of the musculature
HP:0007477Abnormal dermatoglyphics
Частый (30–79%)3
HP:0000003Multicystic kidney dysplasia
HP:0000164Abnormality of the dentition
HP:0000670Carious teeth
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 4 | 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)