Ring chromosome 16 syndrome
ORPHA:96178Malformation syndromeAntenatal, Infancy, Neonatal
Фенотипы (HPO)19
Частый (30–79%)7
HP:0000252Microcephaly
HP:0000369Low-set ears
HP:0000431Wide nasal bridge
HP:0000750Delayed speech and language development
HP:0001249Intellectual disability
HP:0002714Downturned corners of mouth
HP:0008897Postnatal growth retardation
Периодический (5–29%)11
HP:0000322Short philtrum
HP:0000347Micrognathia
HP:0000506Telecanthus
HP:0000664Synophrys
HP:0000729Autistic behavior
HP:0001250Seizure
HP:0001263Global developmental delay
HP:0001531Failure to thrive in infancy
HP:0001627Abnormal heart morphology
HP:0001762Talipes equinovarus
HP:0002079Hypoplasia of the corpus callosum
Очень редкий (1–4%)1
HP:0004812B Acute Lymphoblastic Leukemia
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 10 | 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)