10q22.3q23.3 microdeletion syndrome
ORPHA:276413Malformation syndromeNot applicable, UnknownInfancy, Neonatal
Фенотипы (HPO)30
Очень частый (80–99%)4
HP:0000256Macrocephaly
HP:0001249Intellectual disability
HP:0001263Global developmental delay
HP:0002463Language impairment
Частый (30–79%)3
HP:0000316Hypertelorism
HP:0000369Low-set ears
HP:0005280Depressed nasal bridge
Периодический (5–29%)23
HP:0000252Microcephaly
HP:0000286Epicanthus
HP:0000308Microretrognathia
HP:0000463Anteverted nares
HP:0000494Downslanted palpebral fissures
HP:0000582Upslanted palpebral fissure
HP:0000601Hypotelorism
HP:0000717Autism
HP:0001166Arachnodactyly
HP:0001250Seizure
HP:0001321Cerebellar hypoplasia
HP:0001508Failure to thrive
HP:0001643Patent ductus arteriosus
HP:0001704Tricuspid valve prolapse
HP:0001883Talipes
HP:0002007Frontal bossing
HP:0002308Chiari malformation
HP:0006695Atrioventricular canal defect
HP:0007018Attention deficit hyperactivity disorder
HP:0100444Curved middle phalanx of the 4th toe
HP:0100783Breast aplasia
HP:0200008Intestinal polyposis
HP:0001382Joint hypermobility
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)