Orphanet: Ocular anomalies axonal neuropathy developmental delay syndrome

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Disease definition

A rare mitochondrial disease characterized by signs and symptoms within a phenotypic and metabolic spectrum that includes global developmental delay, hypotonia, intellectual disability, optic atrophy, axonal neuropathy, hypertrophic cardiomyopathy, lactic acidosis, and increased excretion of Krebs cycle intermediates. Other variable features are spasticity, seizures, ataxia, congenital cataract, and dysmorphic facial features. Age of onset is in the neonatal period or infancy.

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Ocular anomalies-axonal neuropathy-developmental delay syndrome

ORPHA:496790

A summary on this disease is available in Español (2020) Français (2020) Nederlands (2020)

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