SEMDFA
spondyloepimetaphyseal dysplasia, faden-Alkuraya type
spondyloepimetaphyseal dysplasia, faden-ALKURAYA type
spondyloepimetaphyseal dysplasia, progressive, with short stature, Facial Dysmorphism, short fourth metatarsals, and intellectual disability, with or without craniosynostosis
spondyloepimetaphyseal dysplasia, progressive, with short stature, Facial Dysmorphism, short fourth metatarsals, and mental retardation, with or without craniosynostosis