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ENBrachyolmia Type 4 with Mild Epiphyseal and Metaphyseal Changes (BCYM4)
Alias:
Spondyloepimetaphyseal Dysplasia, Pakistani Type
Spondyloepimetaphyseal Dysplasia, Papss2 Type
Spondylodysplasia and Premature Pubarche
Semd, Pakistani Type
Bcym4
Brachyolmia, Type 4, with Mild Epiphyseal and Metaphyseal Changes
Brachyolmia 4 with Mild Epiphyseal and Metaphyseal Changes
Spondyloepimetaphyseal Dysplasia Pakistani Type
Spondylometaepiphyseal Dysplasia Pakistani Type
Semd Pakistani Type
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Brachyolmia Type 4 with Mild Epiphyseal and Metaphyseal Changes, also known as spondyloepimetaphyseal dysplasia, pakistani type, is related to brachyolmia type 1, hobaek type and coxa vara. An important gene associated with Brachyolmia Type 4 with Mild Epiphyseal and Metaphyseal Changes is PAPSS2 (3'-Phosphoadenosine 5'-Phosphosulfate Synthase 2). Affiliated tissues include bone, and related phenotypes are short stature and acne
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MALACARDS
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