/neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities

neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities

Rare Disease

MONDO:0957225

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

Huntington disease and related disorders

MONDO:0000167

agenesis of the corpus callosum with peripheral neuropathy

MONDO:0000902

striatonigral degeneration

MONDO:0003122

angioid streaks of choroid

MONDO:0004882

amyotrophic lateral sclerosis-parkinsonism-dementia complex

MONDO:0007104

inherited Creutzfeldt-Jakob disease

MONDO:0007403