14q11.2 microdeletion syndrome
ORPHA:261120Malformation syndromeNot applicable, UnknownInfancy, Neonatal
Фенотипы (HPO)25
Очень частый (80–99%)9
HP:0000232Everted lower lip vermilion
HP:0000316Hypertelorism
HP:0000343Long philtrum
HP:0001256Intellectual disability, mild
HP:0002263Exaggerated cupid's bow
HP:0003196Short nose
HP:0005280Depressed nasal bridge
HP:0011344Severe global developmental delay
HP:0000358Posteriorly rotated ears
Частый (30–79%)16
HP:0000160Narrow mouth
HP:0000218High palate
HP:0000286Epicanthus
HP:0000337Broad forehead
HP:0000340Sloping forehead
HP:0000347Micrognathia
HP:0000490Deeply set eye
HP:0000581Blepharophimosis
HP:0000995Melanocytic nevus
HP:0001629Ventricular septal defect
HP:0001643Patent ductus arteriosus
HP:0001770Toe syndactyly
HP:0001863Toe clinodactyly
HP:0002002Deep philtrum
HP:0002553Highly arched eyebrow
HP:0005338Sparse lateral eyebrow
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 3 | 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)