MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect
ORPHA:485421Etiological subtypeAutosomal recessiveInfancy
Ассоциированные гены1
Фенотипы (HPO)29
Частый (30–79%)27
HP:0040288Nasogastric tube feeding
HP:0000505Visual impairment
HP:0000543Optic disc pallor
HP:0000544External ophthalmoplegia
HP:0000648Optic atrophy
HP:0000649Abnormality of visual evoked potentials
HP:0000758Impaired use of nonverbal behaviors
HP:0000762Decreased nerve conduction velocity
HP:0001250Seizure
HP:0001257Spasticity
HP:0001270Motor delay
HP:0001272Cerebellar atrophy
HP:0001324Muscle weakness
HP:0001347Hyperreflexia
HP:0002015Dysphagia
HP:0002353EEG abnormality
HP:0002376Developmental regression
HP:0002521Hypsarrhythmia
HP:0004302Functional motor deficit
HP:0005484Secondary microcephaly
HP:0008936Axial hypotonia
HP:0011968Feeding difficulties
HP:0012087Abnormal mitochondrial shape
HP:0012696Abnormal thalamic MRI signal intensity
HP:0012736Profound global developmental delay
HP:0012751Abnormal basal ganglia MRI signal intensity
HP:0025112Sound sensitivity
Периодический (5–29%)2
HP:0001510Growth delay
HP:0011097Epileptic spasm
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 4 | 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)