Congenital cataracts-facial dysmorphism-neuropathy syndrome
ORPHA:48431Malformation syndromeAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)32
Очень частый (80–99%)19
HP:0000518Cataract
HP:0000568Microphthalmia
HP:0000639Nystagmus
HP:0000763Sensory neuropathy
HP:0001256Intellectual disability, mild
HP:0001263Global developmental delay
HP:0001511Intrauterine growth retardation
HP:0002808Kyphosis
HP:0003134Abnormality of peripheral nerve conduction
HP:0003401Paresthesia
HP:0004322Short stature
HP:0005830Flexion contracture of toe
HP:0007182Peripheral hypomyelination
HP:0010620Malar prominence
HP:0034681Finger joint contracture
HP:0000044Hypogonadotropic hypogonadism
HP:0000347Micrognathia
HP:0000482Microcornea
HP:0000486Strabismus
Частый (30–79%)4
HP:0000939Osteoporosis
HP:0002120Cerebral cortical atrophy
HP:0002650Scoliosis
HP:0030890Hyperintensity of cerebral white matter on MRI
Периодический (5–29%)9
HP:0001251Ataxia
HP:0001310Dysmetria
HP:0001943Hypoglycemia
HP:0002072Chorea
HP:0002080Intention tremor
HP:0002119Ventriculomegaly
HP:0003319Abnormality of the cervical spine
HP:0007256Abnormal pyramidal sign
HP:0008942Acute rhabdomyolysis
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 170 | 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)