Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome

Parents (13)

• 13028004Abnormal nervous system function finding
• 85995004Autosomal recessive hereditary disorder disorder
• 11194003Congenital anomaly of anus disorder
• 403855001Congenital anomaly of digit disorder
• 1145425009Congenital hypoplasia of bone of extremity disorder
• 363070008Developmental hereditary disorder disorder
• 363080007Digestive system hereditary disorder disorder
• 84757009Epilepsy disorder
• 1362108000Genetic intellectual disability disorder
• 363212003Hereditary disorder of musculoskeletal system disorder
• 363235000Hereditary disorder of nervous system disorder
• 41443008Multiple malformation syndrome with limb defect as major feature disorder
• 897433009Structural abnormality of long bone disorder

Children (0)

None (leaf concept).