Mendelian encephalopathy

Part of

Sub-types of Mendelian encephalopathy

• Familial acute necrotizing encephalopathy 1 trial
• Bonnemann-Meinecke-Reich syndrome 0 trials
• Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome 0 trials
• Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome 0 trials
• Encephalitis/encephalopathy, mild, with reversible myelin vacuolization 0 trials
• Encephalopathy due to defective mitochondrial and peroxisomal fission 2 0 trials
• Encephalopathy, axonal, with necrotizing myopathy, cardiomyopathy, and cataracts 0 trials
• Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 0 trials
• Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities 0 trials
• Encephalopathy, porphyria-related 0 trials
• Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy 0 trials
  2 sub-types

  • NAD(P)HX dehydratase deficiency 0 trials
  • Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 0 trials
• Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 0 trials
• Encephalopathy, progressive, with amyotrophy and optic atrophy 0 trials
• Encephalopathy, recurrent, of childhood 0 trials
• Ethylmalonic encephalopathy 0 trials
• Familial encephalopathy with neuroserpin inclusion bodies 0 trials
• Severe neonatal-onset encephalopathy with microcephaly 0 trials
• Severe neurodegenerative syndrome with lipodystrophy 0 trials
• Spongiform encephalopathy with neuropsychiatric features 0 trials