21q deletion syndrome
ORPHA:574Malformation syndromeAntenatal, Neonatal
Фенотипы (HPO)26
Очень частый (80–99%)1
HP:0001531Failure to thrive in infancy
Частый (30–79%)16
HP:0000218High palate
HP:0000286Epicanthus
HP:0000294Low anterior hairline
HP:0000308Microretrognathia
HP:0000341Narrow forehead
HP:0000369Low-set ears
HP:0000494Downslanted palpebral fissures
HP:0001249Intellectual disability
HP:0001263Global developmental delay
HP:0001511Intrauterine growth retardation
HP:0001631Atrial septal defect
HP:0001873Thrombocytopenia
HP:0001903Anemia
HP:0002719Recurrent infections
HP:0005484Secondary microcephaly
HP:0008897Postnatal growth retardation
Периодический (5–29%)9
HP:0000316Hypertelorism
HP:0000343Long philtrum
HP:0001250Seizure
HP:0001273Abnormal corpus callosum morphology
HP:0001629Ventricular septal defect
HP:0002120Cerebral cortical atrophy
HP:0002623Overriding aorta
HP:0002714Downturned corners of mouth
HP:0004209Clinodactyly of the 5th finger
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 50 | 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)