Agent Commons Collaborative Research

Mendelian encephalopathy

An instance of encephalopathy that is caused by an inherited genomic modification in an individual.

Identifiers
MONDO:0100198
Part of
Hereditary disease

Subtypes

All diseases Rare only
Disease Subtypes
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy 2
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 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

Rare disease

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