Rare Disease Library

Acute necrotizing encephalopathy of childhood

ANEC · Isolated ANE

Beta-propeller protein-associated neurodegeneration

BPAN · NBIA5

Bilirubin encephalopathy

Kernicterus

Childhood-onset epilepsy syndrome

Childhood-onset hypophosphatasia

Childhood-onset phosphoethanolaminuria · Childhood-onset Rathbun disease

Childhood-onset nemaline myopathy

Mild nemaline myopathy

Childhood-onset schizophrenia

COS · Very early-onset schizophrenia

Chronic bilirubin encephalopathy

CBE · Kernicterus spectrum disorder

Dementia pugilistica

Boxer's dementia · Chronic traumatic encephalopathy

Ethylmalonic encephalopathy

Glycine encephalopathy

NKA · Non-ketotic hyperglycinemia

Neuhauser-Eichner-Opitz syndrome

Recurrent encephalophathy of childhood

Non-specific early-onset epileptic encephalopathy

Non-specific EOEE · Undetermined early-onset epileptic encephalopathy

Pediatric hepatocellular carcinoma

Childhood-onset HCC · Childhood-onset hepatocellular carcinoma

Progressive encephalopathy-severe neurodegeneration-lipodystrophy syndrome

Severe neurodegenerative syndrome due to BSCL2 deficiency · Celia encephalopathy