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

Parents (10)

• 13028004Abnormal nervous system function finding
• 85995004Autosomal recessive hereditary disorder disorder
• 68574006Cortical blindness disorder
• 1275631007Developmental and epileptic encephalopathy disorder
• 363070008Developmental hereditary disorder disorder
• 54767005Disorder of visual pathways disorder
• 1362108000Genetic intellectual disability disorder
• 363235000Hereditary disorder of nervous system disorder
• 363343008Hereditary disorder of the visual system disorder
• 65094009Multiple malformation syndrome with facial defects as major feature disorder

Children (0)

None (leaf concept).