16p11.2p12.2 microdeletion syndrome
ORPHA:261211Malformation syndromeNot applicable, UnknownInfancy, Neonatal
Фенотипы (HPO)43
Очень частый (80–99%)7
HP:0000389Chronic otitis media
HP:0000494Downslanted palpebral fissures
HP:0001263Global developmental delay
HP:0001511Intrauterine growth retardation
HP:0002020Gastroesophageal reflux
HP:0002342Intellectual disability, moderate
HP:0011968Feeding difficulties
Частый (30–79%)18
HP:0000194Open mouth
HP:0000286Epicanthus
HP:0000308Microretrognathia
HP:0000369Low-set ears
HP:0000377Abnormal pinna morphology
HP:0000490Deeply set eye
HP:0000581Blepharophimosis
HP:0000750Delayed speech and language development
HP:0000752Hyperactivity
HP:0001252Hypotonia
HP:0001770Toe syndactyly
HP:0002007Frontal bossing
HP:0004322Short stature
HP:0007328Impaired pain sensation
HP:0007565Multiple cafe-au-lait spots
HP:0007598Bilateral single transverse palmar creases
HP:0012368Flat face
HP:0100490Camptodactyly of finger
Периодический (5–29%)18
HP:0000202Orofacial cleft
HP:0000276Long face
HP:0000348High forehead
HP:0000365Hearing impairment
HP:0000414Bulbous nose
HP:0000463Anteverted nares
HP:0000486Strabismus
HP:0000601Hypotelorism
HP:0002360Sleep abnormality
HP:0003189Long nose
HP:0003196Short nose
HP:0004279Short palm
HP:0005180Tricuspid regurgitation
HP:0005285Absent nasal bridge
HP:0009623Proximal placement of thumb
HP:0010535Sleep apnea
HP:0011675Arrhythmia
HP:0100033Tics
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 8 | 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)