Congenital muscular dystrophy, Fukuyama type
ORPHA:272Malformation syndromeAutosomal recessiveInfancy
Ассоциированные гены1
Фенотипы (HPO)31
Очень частый (80–99%)13
HP:0000298Mask-like facies
HP:0000750Delayed speech and language development
HP:0001252Hypotonia
HP:0001263Global developmental delay
HP:0001288Gait disturbance
HP:0001357Plagiocephaly
HP:0001371Flexion contracture
HP:0003198Myopathy
HP:0003457EMG abnormality
HP:0003560Muscular dystrophy
HP:0007260Type II lissencephaly
HP:0010864Intellectual disability, severe
HP:0030046Hypoglycosylation of alpha-dystroglycan
Частый (30–79%)9
HP:0000238Hydrocephalus
HP:0000248Brachycephaly
HP:0000545Myopia
HP:0000767Pectus excavatum
HP:0001250Seizure
HP:0001612Weak cry
HP:0002119Ventriculomegaly
HP:0002353EEG abnormality
HP:0100490Camptodactyly of finger
Периодический (5–29%)9
HP:0000268Dolichocephaly
HP:0000501Glaucoma
HP:0000505Visual impairment
HP:0000518Cataract
HP:0000648Optic atrophy
HP:0001511Intrauterine growth retardation
HP:0001644Dilated cardiomyopathy
HP:0007370Aplasia/Hypoplasia of the corpus callosum
HP:0007973Retinal dysplasia
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 2.8 | Japan | Value and class |
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)