Rare Disease Library

Intermediate DEND syndrome

Developmental delay-epilepsy-neonatal diabetes syndrome, intermediate form

DEND syndrome

Developmental delay-epilepsy-neonatal diabetes syndrome

MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome

Neonatal-infantile onset epilepsy syndrome

OBSOLETE: Neonatal epilepsy syndrome

Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome

Spastic paraplegia-severe developmental delay-epilepsy syndrome

SPPRS syndrome · Spastic paraplegia-psychomotor retardation-seizures syndrome