17p11.2 microduplication syndrome
ORPHA:1713Malformation syndromeNot applicableChildhood, Infancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)35
Очень частый (80–99%)13
HP:0000600Abnormality of the pharynx
HP:0000717Autism
HP:0001252Hypotonia
HP:0001256Intellectual disability, mild
HP:0001260Dysarthria
HP:0001263Global developmental delay
HP:0001508Failure to thrive
HP:0002381Aphasia
HP:0002474Expressive language delay
HP:0002916Abnormality of chromosome segregation
HP:0007018Attention deficit hyperactivity disorder
HP:0010529Echolalia
HP:0010535Sleep apnea
Частый (30–79%)13
HP:0000325Triangular face
HP:0000337Broad forehead
HP:0000347Micrognathia
HP:0000494Downslanted palpebral fissures
HP:0000739Anxiety
HP:0002020Gastroesophageal reflux
HP:0002353EEG abnormality
HP:0002650Scoliosis
HP:0007010Poor fine motor coordination
HP:0008499High hypermetropia
HP:0011098Speech apraxia
HP:0030680Abnormal cardiovascular system morphology
HP:0200136Oral-pharyngeal dysphagia
Периодический (5–29%)9
HP:0000358Posteriorly rotated ears
HP:0000154Wide mouth
HP:0000252Microcephaly
HP:0000316Hypertelorism
HP:0000365Hearing impairment
HP:0002079Hypoplasia of the corpus callosum
HP:0004322Short stature
HP:0006482Abnormal dental morphology
HP:0010807Open bite
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 170 | Worldwide | Case(s) |
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)