19q13.11 microdeletion syndrome
ORPHA:217346Malformation syndromeNot applicable, UnknownInfancy, Neonatal
Фенотипы (HPO)40
Очень частый (80–99%)11
HP:0000047Hypospadias
HP:0000252Microcephaly
HP:0000750Delayed speech and language development
HP:0001057Aplasia cutis congenita
HP:0001249Intellectual disability
HP:0001508Failure to thrive
HP:0001510Growth delay
HP:0001511Intrauterine growth retardation
HP:0004209Clinodactyly of the 5th finger
HP:0004326Cachexia
HP:0011968Feeding difficulties
Частый (30–79%)20
HP:0000028Cryptorchidism
HP:0000233Thin vermilion border
HP:0000276Long face
HP:0000278Retrognathia
HP:0000348High forehead
HP:0000430Underdeveloped nasal alae
HP:0000958Dry skin
HP:0000963Thin skin
HP:0001770Toe syndactyly
HP:0001863Toe clinodactyly
HP:0002164Nail dysplasia
HP:0002205Recurrent respiratory infections
HP:0002213Fine hair
HP:0002558Supernumerary nipple
HP:0005338Sparse lateral eyebrow
HP:0006101Finger syndactyly
HP:0006610Wide intermamillary distance
HP:0008070Sparse hair
HP:0010761Broad columella
HP:0200102Sparse or absent eyelashes
Периодический (5–29%)9
HP:0000048Bifid scrotum
HP:0000154Wide mouth
HP:0000365Hearing impairment
HP:0000482Microcornea
HP:0000518Cataract
HP:0001374Congenital hip dislocation
HP:0001629Ventricular septal defect
HP:0006315Single median maxillary incisor
HP:0030680Abnormal cardiovascular system morphology
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 12 | 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)