Rare Disease Library

MECP2-related severe neonatal encephalopathy

Severe congenital encephalopathy due to MECP2 mutation

Congenital axonal neuropathy with encephalopathy

Congenital cerebellar ataxia due to RNU12 mutation

Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome

Asparagine synthetase deficiency

Congenital muscular dystrophy due to LMNA mutation

L-CMD · LMNA-related congenital muscular dystrophy

PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation

Severe congenital nemaline myopathy

Severe dilated cardiomyopathy due to lamin A/C mutation

Severe dilated cardiomyopathy with or without myopathy