Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome
ORPHA:457205DiseaseAutosomal recessiveInfancy
Фенотипы (HPO)26
Частый (30–79%)25
HP:0000028Cryptorchidism
HP:0000501Glaucoma
HP:0000648Optic atrophy
HP:0000737Irritability
HP:0000762Decreased nerve conduction velocity
HP:0001263Global developmental delay
HP:0001332Dystonia
HP:0001344Absent speech
HP:0002020Gastroesophageal reflux
HP:0002059Cerebral atrophy
HP:0002069Bilateral tonic-clonic seizure
HP:0002353EEG abnormality
HP:0002540Inability to walk
HP:0003202Skeletal muscle atrophy
HP:0003390Sensory axonal neuropathy
HP:0004302Functional motor deficit
HP:0007002Motor axonal neuropathy
HP:0007817Horizontal supranuclear gaze palsy
HP:0008366Foot joint contracture
HP:0008872Feeding difficulties in infancy
HP:0008947Floppy infant
HP:0011344Severe global developmental delay
HP:0011471Gastrostomy tube feeding in infancy
HP:0030179Abnormal peripheral action potential amplitude
HP:0100660Dyskinesia
Периодический (5–29%)1
HP:0012411Premature pubarche
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 2 | 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)