Mietens syndrome
ORPHA:2557Malformation syndromeAutosomal recessiveInfancy, Neonatal
Фенотипы (HPO)32
Очень частый (80–99%)15
HP:0000486Strabismus
HP:0000639Nystagmus
HP:0001249Intellectual disability
HP:0001263Global developmental delay
HP:0001328Specific learning disability
HP:0001387Joint stiffness
HP:0002300Mutism
HP:0002381Aphasia
HP:0002984Hypoplasia of the radius
HP:0003022Hypoplasia of the ulna
HP:0003042Elbow dislocation
HP:0003196Short nose
HP:0003510Severe short stature
HP:0007957Corneal opacity
HP:0010529Echolalia
Частый (30–79%)5
HP:0000348High forehead
HP:0000431Wide nasal bridge
HP:0000445Wide nose
HP:0003070Elbow ankylosis
HP:0004209Clinodactyly of the 5th finger
Периодический (5–29%)12
HP:0000252Microcephaly
HP:0000482Microcornea
HP:0000518Cataract
HP:0000647Sclerocornea
HP:0001385Hip dysplasia
HP:0001840Metatarsus adductus
HP:0001883Talipes
HP:0002673Coxa valga
HP:0002812Coxa vara
HP:0002827Hip dislocation
HP:0002991Abnormal fibula morphology
HP:0005743Avascular necrosis of the capital femoral epiphysis
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 9 | 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)