Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome

Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome (disorder)

active

Code	`771469002`
Semantic tag	disorder
Module	international
Definition	primitive
Effective time	20190131

Synonyms

AFG3L2 (AFG3 like matrix AAA peptidase subunit 2) related spastic ataxia, myoclonic epilepsy, neuropathy syndrome
AFG3L2-related spastic ataxia, myoclonic epilepsy, neuropathy syndrome
Autosomal recessive spastic ataxia type 5

Parents (7)

85995004Autosomal recessive hereditary disorder disorder
78689005Chronic brain syndrome disorder
128289001Chronic metabolic disorder disorder
434371000124108Chronic myelopathy disorder
240096000Mitochondrial cytopathy disorder
267581004Progressive myoclonic epilepsy disorder
129609000Spinocerebellar ataxia disorder

Children (0)

None (leaf concept).