Rare Disease Library

Pyridoxamine-5-phosphate deficiency-developmental and epileptic encephalopathy

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

ARX-related epileptic encephalopathy

CNTNAP2-related developmental and epileptic encephalopathy

CDFE syndrome · CDFES

Facial dysmorphism-corpus callosum hypoplasia-infantile epileptic encephalopathy

WWOX-related epileptic encephalopathy

FOXG1 syndrome

FOXG1-related epileptic-dyskinetic encephalopathy

Infantile epileptic-dyskinetic encephalopathy

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

KCNQ2-related developmental and epileptic encephalopathy

KCNQ2-DEE

Lethal neonatal spasticity-epileptic encephalopathy syndrome

Lethal neonatal rigidity-multifocal seizure syndrome

MECP2-related severe neonatal encephalopathy

Severe congenital encephalopathy due to MECP2 mutation

Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome

COQ4-related neonatal encephalomyopathy

Neonatal epileptic encephalopathy due to glutaminase deficiency

Neonatal glycine encephalopathy

Classic glycine encephalopathy · Neonatal NKH

Non-specific early-onset epileptic encephalopathy

Non-specific EOEE · Undetermined early-onset epileptic encephalopathy

PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome

RNF13-related severe early-onset epileptic encephalopathy

RNF13-related severe EOEE

STXBP1-related encephalopathy

SYNGAP1-related developmental and epileptic encephalopathy

SYNGAP1-related DEE