19p13.12 microdeletion syndrome
ORPHA:254346Malformation syndromeNot applicable, UnknownInfancy, Neonatal
Фенотипы (HPO)55
Очень частый (80–99%)2
HP:0000750Delayed speech and language development
HP:0001263Global developmental delay
Частый (30–79%)23
HP:0000233Thin vermilion border
HP:0000248Brachycephaly
HP:0000252Microcephaly
HP:0000286Epicanthus
HP:0000337Broad forehead
HP:0000369Low-set ears
HP:0000407Sensorineural hearing impairment
HP:0000446Narrow nasal bridge
HP:0000463Anteverted nares
HP:0000470Short neck
HP:0000664Synophrys
HP:0000668Hypodontia
HP:0000752Hyperactivity
HP:0001250Seizure
HP:0001252Hypotonia
HP:0001511Intrauterine growth retardation
HP:0001631Atrial septal defect
HP:0002119Ventriculomegaly
HP:0002650Scoliosis
HP:0004209Clinodactyly of the 5th finger
HP:0004279Short palm
HP:0011675Arrhythmia
HP:0000377Abnormal pinna morphology
Периодический (5–29%)30
HP:0000028Cryptorchidism
HP:0000047Hypospadias
HP:0000175Cleft palate
HP:0000316Hypertelorism
HP:0000343Long philtrum
HP:0000405Conductive hearing impairment
HP:0000486Strabismus
HP:0000520Proptosis
HP:0000545Myopia
HP:0000639Nystagmus
HP:0000821Hypothyroidism
HP:0000826Precocious puberty
HP:0001363Craniosynostosis
HP:0001397Hepatic steatosis
HP:0001513Obesity
HP:0001629Ventricular septal defect
HP:0001653Mitral regurgitation
HP:0001659Aortic regurgitation
HP:0001852Sandal gap
HP:0001863Toe clinodactyly
HP:0001869Deep plantar creases
HP:0002079Hypoplasia of the corpus callosum
HP:0002230Generalized hirsutism
HP:0002804Arthrogryposis multiplex congenita
HP:0002808Kyphosis
HP:0003077Hyperlipidemia
HP:0006101Finger syndactyly
HP:0006191Deep palmar crease
HP:0006817Aplasia/Hypoplasia of the cerebellar vermis
HP:0100716Self-injurious behavior
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 6 | 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)