Rare Disease Library

Progressive encephalopathy-severe neurodegeneration-lipodystrophy syndrome

Severe neurodegenerative syndrome due to BSCL2 deficiency · Celia encephalopathy

Acute bilirubin encephalopathy

ABE · Acute kernicterus

Aicardi-Goutières syndrome

Encephalopathy with basal ganglia calcification · Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid

ARX-related epileptic encephalopathy

Atypical glycine encephalopathy

Atypical NKA · Atypical non-ketotic hyperglycinemia

Bilirubin encephalopathy

Kernicterus

Cataract-nephropathy-encephalopathy syndrome

Crome syndrome

Chronic bilirubin encephalopathy

CBE · Kernicterus spectrum disorder

Cree leukoencephalopathy

Dementia pugilistica

Boxer's dementia · Chronic traumatic encephalopathy

Early myoclonic encephalopathy

Early myoclonic encephalopathy with suppression-bursts

Ethylmalonic encephalopathy

Glycine encephalopathy

NKA · Non-ketotic hyperglycinemia

Infantile glycine encephalopathy

Infantile NKH · Infantile non-ketotic hyperglycinemia

Neonatal glycine encephalopathy

Classic glycine encephalopathy · Neonatal NKH

Neonatal hypoxic and ischemic brain injury

HIE · Hypoxic and ischemic brain injury in the newborn

Odontoleukodystrophy

Dentoleukoencephalopathy · Leukodystrophy with oligodontia

STXBP1-related encephalopathy

Thiamine-responsive encephalopathy