progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome

Rare Disease

MONDO:0014748

Also known as:

SEMDFAspondyloepimetaphyseal dysplasia, faden-Alkuraya typespondyloepimetaphyseal dysplasia, faden-ALKURAYA type

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progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome

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