Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual disability, Leber congenital amaurosis syndrome

Parents (10)

• 85995004Autosomal recessive hereditary disorder disorder
• 103276001Decreased hearing finding
• 363070008Developmental hereditary disorder disorder
• 1362108000Genetic intellectual disability disorder
• 363212003Hereditary disorder of musculoskeletal system disorder
• 788953003Hereditary hearing loss disorder
• 193413001Leber's amaurosis disorder
• 82354003Multiple system malformation syndrome disorder
• 60700002Sensorineural hearing loss disorder
• 278713008Spondyloepiphyseal dysplasia congenita disorder

Children (0)

None (leaf concept).