Mendelian encephalopathy

Findings

No curated finding names Mendelian encephalopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Where it sits

A kind of

• hereditary disease

Narrower terms (19)

• Bonnemann-Meinecke-Reich syndrome
• early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
• early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
• encephalitis/encephalopathy, mild, with reversible myelin vacuolization
• encephalopathy due to defective mitochondrial and peroxisomal fission 2
• encephalopathy, axonal, with necrotizing myopathy, cardiomyopathy, and cataracts
• encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1
• encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities
• encephalopathy, porphyria-related
• encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy
• encephalopathy, progressive, early-onset, with episodic rhabdomyolysis
• encephalopathy, progressive, with amyotrophy and optic atrophy
• encephalopathy, recurrent, of childhood
• ethylmalonic encephalopathy
• familial acute necrotizing encephalopathy
• familial encephalopathy with neuroserpin inclusion bodies
• severe neonatal-onset encephalopathy with microcephaly
• severe neurodegenerative syndrome with lipodystrophy
• spongiform encephalopathy with neuropsychiatric features