Skeletal dysplasia with epilepsy and short stature syndrome

Parents (8)

• 85995004Autosomal recessive hereditary disorder disorder
• 8447006Congenital anomaly of skeletal bone disorder
• 363070008Developmental hereditary disorder disorder
• 1362108000Genetic intellectual disability disorder
• 363212003Hereditary disorder of musculoskeletal system disorder
• 879976004Lesion of bone disorder
• 237836003Short stature disorder disorder
• 105986008Skeletal dysplasia disorder

Children (0)

None (leaf concept).