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Definition

An autosomal recessive skeletal disorder characterized by spondyloepimetaphyseal dysplasia, short stature, facial dysmorphism, short fourth metatarsals, and intellectual disability.

Acronym

SEMDFA

Synonyms

Spondyloepimetaphyseal dysplasia, progressive, with short stature, facial dysmorphism, short fourth metatarsals, and mental retardation, with or without craniosynostosis

Keywords

Dwarfism
Mental retardation

 
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Main funding by: National Institutes of Health

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