Rare Disease Library

Early-onset calcifying leukoencephalopathy-skeletal dysplasia

BANDDOS · Brain abnormalities-neurodegeneration-dysosteosclerosis disease

Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation

Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome

Epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome

Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome

EMARDD

Early-onset obesity-hyperphagia-severe developmental delay syndrome

OBHD

Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome

Early-onset progressive encephalopathy with migrant continuous myoclonus

Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome

Early-onset progressive encephalopathy-brain atrophy-spasticity syndrome · PEBAS