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ENSpondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type (SEMDFA)
Alias:
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Semdfa
Spondyloepimetaphyseal Dysplasia, Progressive, with Short Stature, Facial Dysmorphism, Short Fourth Metatarsals, and Mental Retardation, with or Without Craniosynostosis
Dysplasia, Spondylopeimetaphyseal, Faden-Alkuraya Type
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Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type, also known as progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome, is related to coxa vara and brachydactyly. An important gene associated with Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type is RSPRY1 (Ring Finger And SPRY Domain Containing 1). Affiliated tissues include bone and brain, and related phenotypes are intellectual disability and frontal bossing
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