Night blindness-skeletal anomalies-dysmorphism syndrome
ORPHA:1390Malformation syndromeChildhood
Фенотипы (HPO)23
Очень частый (80–99%)14
HP:0001382Joint hypermobility
HP:0000174Abnormal palate morphology
HP:0000272Malar flattening
HP:0000278Retrognathia
HP:0000286Epicanthus
HP:0000508Ptosis
HP:0000512Abnormal electroretinogram
HP:0000545Myopia
HP:0000662Nyctalopia
HP:0000664Synophrys
HP:0000670Carious teeth
HP:0001156Brachydactyly
HP:0008046Abnormal retinal vascular morphology
HP:0200021Down-sloping shoulders
Частый (30–79%)9
HP:0000366Abnormality of the nose
HP:0000494Downslanted palpebral fissures
HP:0001100Heterochromia iridis
HP:0001276Hypertonia
HP:0002650Scoliosis
HP:0004209Clinodactyly of the 5th finger
HP:0007703Abnormality of retinal pigmentation
HP:0100543Cognitive impairment
HP:0000358Posteriorly rotated ears
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 2 | 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)