Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type (SEMDFA)

Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type(来自ICD-11)

别称:

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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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

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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