Ring chromosome 12 syndrome
ORPHA:1439Malformation syndromeInfancy, Neonatal
Фенотипы (HPO)27
Облигатный (100%)3
HP:0001263Global developmental delay
HP:0001510Growth delay
HP:0001999Abnormal facial shape
Частый (30–79%)3
HP:0000252Microcephaly
HP:0007477Abnormal dermatoglyphics
HP:0030084Clinodactyly
Периодический (5–29%)21
HP:0000028Cryptorchidism
HP:0000131Uterine leiomyoma
HP:0000369Low-set ears
HP:0000465Webbed neck
HP:0000565Esotropia
HP:0000767Pectus excavatum
HP:0000807Glandular hypospadias
HP:0000821Hypothyroidism
HP:0001007Hirsutism
HP:0001028Hemangioma
HP:0001061Acne
HP:0001159Syndactyly
HP:0001518Small for gestational age
HP:0001684Secundum atrial septal defect
HP:0001810Dystrophic toenail
HP:0002705High, narrow palate
HP:0002938Lumbar hyperlordosis
HP:0003187Breast hypoplasia
HP:0004207Abnormality of the 5th finger
HP:0008551Microtia
HP:0009656Symphalangism of the thumb
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)