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Mowat-Wilson syndrome
MONDO:0009341
Charlevoix-Saguenay spastic ataxia
MONDO:0010041
developmental and epileptic encephalopathy, 2
MONDO:0010396
severe neonatal-onset encephalopathy with microcephaly
MONDO:0010397
familial infantile myoclonic epilepsy
MONDO:0011506
infantile-onset autosomal recessive nonprogressive cerebellar ataxia
MONDO:0011950