Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
ORPHA:496641Malformation syndromeAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)56
Очень частый (80–99%)6
HP:0001257Spasticity
HP:0001324Muscle weakness
HP:0001510Growth delay
HP:0002079Hypoplasia of the corpus callosum
HP:0002120Cerebral cortical atrophy
HP:0003202Skeletal muscle atrophy
Частый (30–79%)16
HP:0000648Optic atrophy
HP:0001263Global developmental delay
HP:0001272Cerebellar atrophy
HP:0001344Absent speech
HP:0002069Bilateral tonic-clonic seizure
HP:0002187Intellectual disability, profound
HP:0002191Progressive spasticity
HP:0002445Tetraplegia
HP:0002465Poor speech
HP:0002878Respiratory failure
HP:0005484Secondary microcephaly
HP:0006808Cerebral hypomyelination
HP:0007179Absent smooth pursuit
HP:0008947Floppy infant
HP:0010818Generalized tonic seizure
HP:0011968Feeding difficulties
Периодический (5–29%)21
HP:0000020Urinary incontinence
HP:0000316Hypertelorism
HP:0000347Micrognathia
HP:0000582Upslanted palpebral fissure
HP:0000687Widely spaced teeth
HP:0001251Ataxia
HP:0001284Areflexia
HP:0001357Plagiocephaly
HP:0001561Polyhydramnios
HP:0002015Dysphagia
HP:0002342Intellectual disability, moderate
HP:0002376Developmental regression
HP:0002380Fasciculations
HP:0002650Scoliosis
HP:0002804Arthrogryposis multiplex congenita
HP:0003084Fractures of the long bones
HP:0003236Elevated circulating creatine kinase concentration
HP:0004887Respiratory failure requiring assisted ventilation
HP:0011451Congenital microcephaly
HP:0012450Chronic constipation
HP:0045075Sparse eyebrow
Очень редкий (1–4%)13
HP:0000011Neurogenic bladder
HP:0000400Macrotia
HP:0000733Abnormal repetitive mannerisms
HP:0000767Pectus excavatum
HP:0000768Pectus carinatum
HP:0001007Hirsutism
HP:0001332Dystonia
HP:0001374Congenital hip dislocation
HP:0002373Febrile seizure (within the age range of 3 months to 6 years)
HP:0002524Cataplexy
HP:0002607Bowel incontinence
HP:0006532Recurrent pneumonia
HP:0007002Motor axonal neuropathy
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 39 | 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)