Distal 22q11.2 microduplication syndrome
ORPHA:261337Malformation syndromeAutosomal dominantAntenatal, Childhood, Infancy, Neonatal
Фенотипы (HPO)57
Периодический (5–29%)57
HP:0000028Cryptorchidism
HP:0000122Unilateral renal agenesis
HP:0000158Macroglossia
HP:0000218High palate
HP:0000238Hydrocephalus
HP:0000252Microcephaly
HP:0000256Macrocephaly
HP:0000280Coarse facial features
HP:0000286Epicanthus
HP:0000303Mandibular prognathia
HP:0000316Hypertelorism
HP:0000319Smooth philtrum
HP:0000322Short philtrum
HP:0000325Triangular face
HP:0000337Broad forehead
HP:0000343Long philtrum
HP:0000347Micrognathia
HP:0000369Low-set ears
HP:0000411Protruding ear
HP:0000414Bulbous nose
HP:0000445Wide nose
HP:0000457Depressed nasal ridge
HP:0000465Webbed neck
HP:0000486Strabismus
HP:0000490Deeply set eye
HP:0000494Downslanted palpebral fissures
HP:0000582Upslanted palpebral fissure
HP:0000588Optic disc coloboma
HP:0000960Sacral dimple
HP:0001182Tapered finger
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001252Hypotonia
HP:0001260Dysarthria
HP:0001263Global developmental delay
HP:0001618Dysphonia
HP:0001629Ventricular septal defect
HP:0001643Patent ductus arteriosus
HP:0001704Tricuspid valve prolapse
HP:0001770Toe syndactyly
HP:0001800Hypoplastic toenails
HP:0001836Camptodactyly of toe
HP:0002007Frontal bossing
HP:0002023Anal atresia
HP:0002162Low posterior hairline
HP:0002463Language impairment
HP:0002650Scoliosis
HP:0004422Biparietal narrowing
HP:0005180Tricuspid regurgitation
HP:0007018Attention deficit hyperactivity disorder
HP:0009738Abnormality of the antihelix
HP:0009795Branchial fistula
HP:0011039Abnormality of the helix
HP:0012471Thick vermilion border
HP:0100022Abnormality of movement
HP:0100490Camptodactyly of finger
HP:0100540Palpebral edema
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)