Rare Disease Library

Ravine syndrome

Progressive encephalopathy with severe infantile anorexia · Reunion island-anorexia-vomiting which is irrepressible-neurological signs syndrome

Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome

Asparagine synthetase deficiency

Early infantile developmental and epileptic encephalopathy

Early infantile epileptic encephalopathy with suppression-bursts · Ohtahara syndrome

Early-onset progressive encephalopathy with migrant continuous myoclonus

Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly

Infantile glycine encephalopathy

Infantile NKH · Infantile non-ketotic hyperglycinemia

PEHO syndrome

Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy

Progressive encephalopathy with leukodystrophy due to DECR deficiency

2,4-dienoyl-CoA reductase deficiency · DECR deficiency with hyperlysinemia

Progressive encephalopathy-severe neurodegeneration-lipodystrophy syndrome

Severe neurodegenerative syndrome due to BSCL2 deficiency · Celia encephalopathy