9q31.1q31.3 microdeletion syndrome
ORPHA:401923Malformation syndromeUnknownNeonatal
Фенотипы (HPO)22
Частый (30–79%)22
HP:0000303Mandibular prognathia
HP:0000455Broad nasal tip
HP:0000470Short neck
HP:0000894Short clavicles
HP:0001182Tapered finger
HP:0001256Intellectual disability, mild
HP:0001644Dilated cardiomyopathy
HP:0001647Bicuspid aortic valve
HP:0001659Aortic regurgitation
HP:0001999Abnormal facial shape
HP:0002553Highly arched eyebrow
HP:0002947Cervical kyphosis
HP:0003124Hypercholesterolemia
HP:0004322Short stature
HP:0005978Type II diabetes mellitus
HP:0011342Mild global developmental delay
HP:0011822Broad chin
HP:0012368Flat face
HP:0025502Overweight
HP:0100817Renovascular hypertension
HP:0100874Thick hair
HP:0200055Small hand
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)