Rare Disease Library

Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome

COQ4-related neonatal encephalomyopathy

ARX-related epileptic encephalopathy

Facial dysmorphism-corpus callosum hypoplasia-infantile epileptic encephalopathy

WWOX-related epileptic encephalopathy

FASTKD2-related infantile mitochondrial encephalomyopathy

Infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome

HPDL-related infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome · HPDL-related Leigh-like encephalopathy

MECP2-related severe neonatal encephalopathy

Severe congenital encephalopathy due to MECP2 mutation

Neonatal glycine encephalopathy

Classic glycine encephalopathy · Neonatal NKH

PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome

Pyridoxamine-5-phosphate deficiency-developmental and epileptic encephalopathy

PNPO-related neonatal epileptic encephalopathy · Pyridoxal phosphate-dependent seizures

STXBP1-related encephalopathy

TMEM70-related mitochondrial encephalo-cardio-myopathy

Mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency · Mitochondrial encephalo-cardio-myopathy due to isolated ATP synthase deficiency