infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome
ORPHA: 457205
Overview
human disease
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome, sourced from HPO and Orphanet clinical annotations.
CryptorchidismGlaucomaOptic atrophyIrritabilityDecreased nerve conduction velocityGlobal developmental delayDystoniaAbsent speechGastroesophageal refluxCerebral atrophyBilateral tonic-clonic seizureEEG abnormalityInability to walkSkeletal muscle atrophySensory axonal neuropathyFunctional motor deficitMotor axonal neuropathyHorizontal supranuclear gaze palsyFoot joint contractureFeeding difficulties in infancyFloppy infantSevere global developmental delayGastrostomy tube feeding in infancyAbnormal peripheral action potential amplitudeDyskinesiaPremature pubarche
Classification & Codes
Orphanet Code
ORPHA:457205infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome
| Orphanet | ORPHA:457205 |
| Treatments | 0 drug(s) |
| Symptoms on record | 26 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO