14q11.2 microduplication syndrome
ORPHA:261229Malformation syndromeInfancy, Neonatal
Ассоциированные гены2
Фенотипы (HPO)24
Очень частый (80–99%)2
HP:0000750Delayed speech and language development
HP:0012758Neurodevelopmental delay
Частый (30–79%)7
HP:0000252Microcephaly
HP:0000718Aggressive behavior
HP:0001249Intellectual disability
HP:0001290Generalized hypotonia
HP:0001513Obesity
HP:0002591Polyphagia
HP:0007018Attention deficit hyperactivity disorder
Периодический (5–29%)15
HP:0000286Epicanthus
HP:0000316Hypertelorism
HP:0000347Micrognathia
HP:0000431Wide nasal bridge
HP:0000666Horizontal nystagmus
HP:0000717Autism
HP:0000821Hypothyroidism
HP:0000956Acanthosis nigricans
HP:0001250Seizure
HP:0001350Slurred speech
HP:0002263Exaggerated cupid's bow
HP:0002360Sleep abnormality
HP:0002553Highly arched eyebrow
HP:0005280Depressed nasal bridge
HP:0008872Feeding difficulties in infancy
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 7 | 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)