Arina Puzriakova Phenotypes for gene: NAXE were changed from Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy 617186 to Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, OMIM:617186
Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 7 variants reported in at least 5 unrelated cases.
Sarah Leigh Phenotypes for gene: NAXE were changed from to Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy 617186