Epilepsy, microcephaly, skeletal dysplasia syndrome

Parents (12)

• 13028004Abnormal nervous system function finding
• 85995004Autosomal recessive hereditary disorder disorder
• 8447006Congenital anomaly of skeletal bone disorder
• 1148758003Congenital microcephaly disorder
• 363070008Developmental hereditary disorder disorder
• 84757009Epilepsy disorder
• 1362108000Genetic intellectual disability disorder
• 363212003Hereditary disorder of musculoskeletal system disorder
• 363235000Hereditary disorder of nervous system disorder
• 879976004Lesion of bone disorder
• 65094009Multiple malformation syndrome with facial defects as major feature disorder
• 105986008Skeletal dysplasia disorder

Children (0)

None (leaf concept).