17q21.31 microduplication syndrome
ORPHA:217340Malformation syndromeNot applicable, UnknownInfancy, Neonatal
Фенотипы (HPO)25
Очень частый (80–99%)4
HP:0000356Abnormality of the outer ear
HP:0000717Autism
HP:0001249Intellectual disability
HP:0001263Global developmental delay
Частый (30–79%)12
HP:0000164Abnormality of the dentition
HP:0000218High palate
HP:0000272Malar flattening
HP:0000322Short philtrum
HP:0000463Anteverted nares
HP:0000729Autistic behavior
HP:0001252Hypotonia
HP:0001770Toe syndactyly
HP:0002230Generalized hirsutism
HP:0003196Short nose
HP:0004209Clinodactyly of the 5th finger
HP:0007018Attention deficit hyperactivity disorder
Периодический (5–29%)9
HP:0000252Microcephaly
HP:0000286Epicanthus
HP:0000347Micrognathia
HP:0000574Thick eyebrow
HP:0000664Synophrys
HP:0000722Compulsive behaviors
HP:0000823Delayed puberty
HP:0001508Failure to thrive
HP:0001852Sandal gap
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)