Ring chromosome 11 syndrome
ORPHA:96175Malformation syndromeAntenatal, Infancy, Neonatal
Фенотипы (HPO)21
Частый (30–79%)7
HP:0000252Microcephaly
HP:0000271Abnormality of the face
HP:0000957Cafe-au-lait spot
HP:0001249Intellectual disability
HP:0001263Global developmental delay
HP:0004322Short stature
HP:0004325Decreased body weight
Периодический (5–29%)14
HP:0000028Cryptorchidism
HP:0000047Hypospadias
HP:0000750Delayed speech and language development
HP:0000821Hypothyroidism
HP:0000826Precocious puberty
HP:0001007Hirsutism
HP:0001510Growth delay
HP:0001511Intrauterine growth retardation
HP:0001513Obesity
HP:0001627Abnormal heart morphology
HP:0002667Nephroblastoma
HP:0005590Spotty hypopigmentation
HP:0008665Clitoral hypertrophy
HP:0030084Clinodactyly
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 20 | 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)