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developmental and epileptic encephalopathy, 29 | RareConnect | RareConnect.io

/undetermined early-onset epileptic encephalopathy

/neonatal-onset developmental and epileptic encephalopathy

/AARS1-related leukoencephalopathy

/developmental and epileptic encephalopathy, 29

developmental and epileptic encephalopathy, 29

Rare Disease

MONDO:0014593

Also Known As

AARS early infantile epileptic encephalopathyDEE29EIEE29developmental and epileptic encephalopathy 29early infantile epileptic encephalopathy caused by mutation in AARSepileptic encephalopathy, early infantile, 29epileptic encephalopathy, early infantile, type 29

Definition

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the AARS gene.

Patient-Friendly Information

Comprehensive, easy-to-understand information about this condition

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Associated Genes

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

OMIM

OMIM:616339 ↗

GARD

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