6q16 microdeletion syndrome
ORPHA:171829DiseaseUnknownAntenatal, Infancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)32
Очень частый (80–99%)4
HP:0000750Delayed speech and language development
HP:0001263Global developmental delay
HP:0001513Obesity
HP:0001999Abnormal facial shape
Частый (30–79%)11
HP:0000256Macrocephaly
HP:0000293Full cheeks
HP:0000341Narrow forehead
HP:0000486Strabismus
HP:0000582Upslanted palpebral fissure
HP:0001319Neonatal hypotonia
HP:0001328Specific learning disability
HP:0002033Poor suck
HP:0002591Polyphagia
HP:0007874Almond-shaped palpebral fissure
HP:0025160Abnormal temper tantrums
Периодический (5–29%)17
HP:0000278Retrognathia
HP:0000337Broad forehead
HP:0000347Micrognathia
HP:0000369Low-set ears
HP:0000414Bulbous nose
HP:0000463Anteverted nares
HP:0000478Abnormality of the eye
HP:0000574Thick eyebrow
HP:0000729Autistic behavior
HP:0000765Abnormal thorax morphology
HP:0001182Tapered finger
HP:0001833Long foot
HP:0002136Broad-based gait
HP:0002370Poor coordination
HP:0005280Depressed nasal bridge
HP:0008551Microtia
HP:0031703Abnormal ear morphology
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 12 | 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)