11p15.4 microduplication syndrome
ORPHA:300305Malformation syndromeAutosomal dominantInfancy, Neonatal
Фенотипы (HPO)18
Частый (30–79%)6
HP:0000708Atypical behavior
HP:0000718Aggressive behavior
HP:0000750Delayed speech and language development
HP:0001249Intellectual disability
HP:0001263Global developmental delay
HP:0001999Abnormal facial shape
Периодический (5–29%)12
HP:0000319Smooth philtrum
HP:0000343Long philtrum
HP:0000358Posteriorly rotated ears
HP:0000400Macrotia
HP:0000463Anteverted nares
HP:0000664Synophrys
HP:0001176Large hands
HP:0001250Seizure
HP:0001513Obesity
HP:0002553Highly arched eyebrow
HP:0011094Overbite
HP:0012389Appendicular hypotonia
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)