Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
ORPHA:543470DiseaseAutosomal recessiveAdolescent, Childhood, Infancy
Ассоциированные гены1
Фенотипы (HPO)39
Очень частый (80–99%)6
HP:0000648Optic atrophy
HP:0000750Delayed speech and language development
HP:0001263Global developmental delay
HP:0001508Failure to thrive
HP:0002194Delayed gross motor development
HP:0010862Delayed fine motor development
Частый (30–79%)7
HP:0000505Visual impairment
HP:0001251Ataxia
HP:0001252Hypotonia
HP:0001257Spasticity
HP:0002376Developmental regression
HP:0002465Poor speech
HP:0012087Abnormal mitochondrial shape
Периодический (5–29%)26
HP:0000062Ambiguous genitalia
HP:0000252Microcephaly
HP:0000518Cataract
HP:0000603Central scotoma
HP:0000618Blindness
HP:0000639Nystagmus
HP:0001250Seizure
HP:0001272Cerebellar atrophy
HP:0001273Abnormal corpus callosum morphology
HP:0001276Hypertonia
HP:0001320Cerebellar vermis hypoplasia
HP:0001622Premature birth
HP:0002066Gait ataxia
HP:0002079Hypoplasia of the corpus callosum
HP:0002134Abnormality of the basal ganglia
HP:0002353EEG abnormality
HP:0002506Diffuse cerebral atrophy
HP:0007333Hypoplasia of the frontal lobes
HP:0008665Clitoral hypertrophy
HP:0008936Axial hypotonia
HP:0012430Cerebral white matter hypoplasia
HP:0012448Delayed myelination
HP:0012697Small basal ganglia
HP:0012794Periventricular white matter hypodensities
HP:0100022Abnormality of movement
HP:0100602Preeclampsia
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 17 | 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)