Ring chromosome 14 syndrome
ORPHA:1440Malformation syndromeNot applicable, UnknownChildhood
Фенотипы (HPO)21
Очень частый (80–99%)2
HP:0001249Intellectual disability
HP:0001250Seizure
Частый (30–79%)9
HP:0000708Atypical behavior
HP:0000750Delayed speech and language development
HP:0001252Hypotonia
HP:0001270Motor delay
HP:0001511Intrauterine growth retardation
HP:0002719Recurrent infections
HP:0005484Secondary microcephaly
HP:0008897Postnatal growth retardation
HP:0025373Interictal EEG abnormality
Периодический (5–29%)10
HP:0000486Strabismus
HP:0000501Glaucoma
HP:0000518Cataract
HP:0000545Myopia
HP:0000612Iris coloboma
HP:0000752Hyperactivity
HP:0000957Cafe-au-lait spot
HP:0001273Abnormal corpus callosum morphology
HP:0002650Scoliosis
HP:0007703Abnormality of retinal pigmentation
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 80 | 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)