Rare Disease Library

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

Auditory neuropathy-optic atrophy syndrome

Autosomal dominant optic atrophy and peripheral neuropathy

Autosomal dominant optic atrophy plus syndrome

ADOA+ · DOA+

Cataract-nephropathy-encephalopathy syndrome

Crome syndrome

Cervical hypertrichosis-peripheral neuropathy syndrome

Hereditary motor and sensory neuropathy type 6

CMT6 · Charcot-Marie-Tooth disease type 6

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

Axonal neuropathy-optic atrophy-cognitive deficit syndrome · ANOAC

Lethal neonatal spasticity-epileptic encephalopathy syndrome

Lethal neonatal rigidity-multifocal seizure syndrome

Leukoencephalopathy-dystonia-motor neuropathy syndrome

Lipodystrophy-demyelinating peripheral sensory-motor neuropathy syndrome

PLAAT3-related lipodystrophy syndrome

MEGDEL syndrome

3-methylglutaconic aciduria with deafness-encephalopathy-Leigh-like syndrome · 3-methylglutaconic aciduria with hearing loss-encephalopathy-Leigh-like syndrome

MYH14-related peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome

Peripheral neuropathy-myopathy-hoarseness-deafness syndrome

OBSOLETE: Deafness-peripheral neuropathy-arterial disease syndrome

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

Peripheral motor neuropathy-dysautonomia syndrome

Lisker-Garcia-Ramos syndrome

Progressive encephalopathy-severe neurodegeneration-lipodystrophy syndrome

Severe neurodegenerative syndrome due to BSCL2 deficiency · Celia encephalopathy

Spastic paraplegia-optic atrophy-neuropathy syndrome

SPOAN