Congenital muscular dystrophy with intellectual disability and severe epilepsy
ORPHA:329178DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)40
Частый (30–79%)19
HP:0000253Progressive microcephaly
HP:0000347Micrognathia
HP:0000938Osteopenia
HP:0001263Global developmental delay
HP:0001290Generalized hypotonia
HP:0001321Cerebellar hypoplasia
HP:0001344Absent speech
HP:0001508Failure to thrive
HP:0001999Abnormal facial shape
HP:0002058Myopathic facies
HP:0002123Generalized myoclonic seizure
HP:0002421Poor head control
HP:0002650Scoliosis
HP:0003236Elevated circulating creatine kinase concentration
HP:0003642Type I transferrin isoform profile
HP:0005781Contractures of the large joints
HP:0007179Absent smooth pursuit
HP:0011169Generalized clonic seizure
HP:0200134Epileptic encephalopathy
Периодический (5–29%)21
HP:0000218High palate
HP:0000219Thin upper lip vermilion
HP:0000243Trigonocephaly
HP:0000294Low anterior hairline
HP:0000486Strabismus
HP:0000601Hypotelorism
HP:0000648Optic atrophy
HP:0000689Dental malocclusion
HP:0001561Polyhydramnios
HP:0001976Reduced antithrombin III activity
HP:0002002Deep philtrum
HP:0002098Respiratory distress
HP:0002205Recurrent respiratory infections
HP:0002240Hepatomegaly
HP:0002518Abnormal periventricular white matter morphology
HP:0002910Elevated circulating hepatic transaminase concentration
HP:0003196Short nose
HP:0003241External genital hypoplasia
HP:0010851EEG with burst suppression
HP:0012762Cerebral white matter atrophy
HP:0040288Nasogastric tube feeding
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 3 | 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)