Severe oculo-renal-cerebellar syndrome
ORPHA:2715Malformation syndromeAutosomal recessiveInfancy
Фенотипы (HPO)29
Очень частый (80–99%)11
HP:0001382Joint hypermobility
HP:0000083Renal insufficiency
HP:0000093Proteinuria
HP:0000486Strabismus
HP:0000648Optic atrophy
HP:0001252Hypotonia
HP:0001266Choreoathetosis
HP:0002187Intellectual disability, profound
HP:0007703Abnormality of retinal pigmentation
HP:0008046Abnormal retinal vascular morphology
HP:0100820Glomerulopathy
Частый (30–79%)13
HP:0000154Wide mouth
HP:0000275Narrow face
HP:0000303Mandibular prognathia
HP:0000400Macrotia
HP:0000505Visual impairment
HP:0001257Spasticity
HP:0001264Spastic diplegia
HP:0001347Hyperreflexia
HP:0001852Sandal gap
HP:0004322Short stature
HP:0007360Aplasia/Hypoplasia of the cerebellum
HP:0010620Malar prominence
HP:0010669Hypoplasia of the zygomatic bone
Периодический (5–29%)5
HP:0000298Mask-like facies
HP:0000518Cataract
HP:0001053Hypopigmented skin patches
HP:0002650Scoliosis
HP:0009748Large earlobe
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 5 | 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)