/encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities

encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities

MONDO:0060562

Also Known As

encephalopathy, neonatal severe, with lactic acidosis and brain abnormalitiesNELABAlipoyltransferase 2 deficiency

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

microcephaly and chorioretinopathy

MONDO:0000181

encephalopathy, recurrent, of childhood

MONDO:0007539

microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability

MONDO:0007918

autosomal dominant primary microcephaly

MONDO:0007988

Prader-Willi syndrome

MONDO:0008300

Smith-Magenis syndrome

MONDO:0008434