MEPAN syndrome

Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome (disorder)

active

Code	`1236805005`
Semantic tag	disorder
Module	international
Definition	primitive
Effective time	20220731

Synonyms

Autosomal recessive childhood-onset dystonia DYT29 type
Childhood-onset generalised dystonia, optic atrophy syndrome
Childhood-onset generalized dystonia, optic atrophy syndrome
DYT29 - dystonia 29
Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome

Parents (8)

85995004Autosomal recessive hereditary disorder disorder
78689005Chronic brain syndrome disorder
128289001Chronic metabolic disorder disorder
70835005Disorder of basal ganglia disorder
425492002Generalised dystonia disorder
26360005Hereditary optic atrophy disorder
128190004Inherited metabolic disorder of nervous system disorder
240096000Mitochondrial cytopathy disorder

Children (0)

None (leaf concept).