NAXE_NME_GGGCC

Panel	Reviews	Mode of inheritance	Details
Amber NAXE_NME_GGGCC STR in Repeat Disorders Version 0.264	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 MONDO:0020781

Panel

Reviews

Mode of inheritance

Details

Version 0.264

review

BIALLELIC, autosomal or pseudoautosomal

encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 MONDO:0020781

1 panel