Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome

Parents (9)

• 13028004Abnormal nervous system function finding
• 85995004Autosomal recessive hereditary disorder disorder
• 363070008Developmental hereditary disorder disorder
• 84757009Epilepsy disorder
• 1362108000Genetic intellectual disability disorder
• 224958001Global developmental delay disorder
• 363235000Hereditary disorder of nervous system disorder
• 65094009Multiple malformation syndrome with facial defects as major feature disorder
• 1137472008Neurodevelopmental delay disorder

Children (0)

None (leaf concept).