Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome

Parents (10)

• 85995004Autosomal recessive hereditary disorder disorder
• 890191004Brachymetatarsia of fourth metatarsal disorder
• 128237006Chronic disease of musculoskeletal system disorder
• 363070008Developmental hereditary disorder disorder
• 1362108000Genetic intellectual disability disorder
• 224958001Global developmental delay disorder
• 363212003Hereditary disorder of musculoskeletal system disorder
• 23359005Multiple malformation syndrome with facial-limb defects as major feature disorder
• 1137472008Neurodevelopmental delay disorder
• 254062008Spondyloepimetaphyseal disorder disorder

Children (0)

None (leaf concept).