Rare Disease Library

Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome

Axonal neuropathy-optic atrophy-cognitive deficit syndrome · ANOAC

3-methylglutaconic aciduria type 3

Autosomal recessive optic atrophy plus syndrome · Autosomal recessive optic atrophy type 3

Auditory neuropathy-optic atrophy syndrome

Autosomal dominant optic atrophy plus syndrome

ADOA+ · DOA+

MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect

Leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome · Leigh-like encephalopathy-optic atrophy-peripheral neuropathy syndrome

Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome

Mohr-Tranebjaerg syndrome

DDON syndrome · Deafness-dystonia-optic neuronopathy syndrome

Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome

Spastic paraplegia-optic atrophy-neuropathy syndrome

SPOAN