Leukoencephalopathy with vanishing white matter 1

Definition

Any leukoencephalopathy with vanishing white matter in which the cause of the disease is a variation in the EIF2B1 gene.

Also known as CACH, childhood ataxia with central nervous system hypomyelinization, vanishing white matter leukodystrophy — per MONDO

Also identified as

• DOID 0070374 per MONDO
• OMIM 603896 per MONDO
• Orphanet 99854 per MONDO
• UMLS C5779972 per MONDO