Subaortic stenosis-short stature syndrome
ORPHA:3191Malformation syndromeNeonatal
Фенотипы (HPO)26
Очень частый (80–99%)7
HP:0000463Anteverted nares
HP:0001608Abnormality of the voice
HP:0001682Subvalvular aortic stenosis
HP:0004322Short stature
HP:0005174Membranous subvalvular aortic stenosis
HP:0008777Abnormal vocal cord morphology
HP:0011675Arrhythmia
Частый (30–79%)5
HP:0000023Inguinal hernia
HP:0001513Obesity
HP:0002093Respiratory insufficiency
HP:0002650Scoliosis
HP:0002808Kyphosis
Периодический (5–29%)14
HP:0000358Posteriorly rotated ears
HP:0000286Epicanthus
HP:0000347Micrognathia
HP:0000470Short neck
HP:0000568Microphthalmia
HP:0000639Nystagmus
HP:0000691Microdontia
HP:0001061Acne
HP:0001080Biliary tract abnormality
HP:0001249Intellectual disability
HP:0003119Abnormal circulating lipid concentration
HP:0005048Synostosis of carpal bones
HP:0005978Type II diabetes mellitus
HP:0007598Bilateral single transverse palmar creases
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 1 | Worldwide | Family(ies) |
| 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)