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ENSpondyloepimetaphyseal Dysplasia, Sponastrime Type (SEMDSP)
Alias:
Sponastrime Dysplasia
Spondylar and Nasal Changes with Striations of the Metaphyses Dysplasia
Spondylar and Nasal Alterations with Striated Metaphyses
Semdsp
Short-Limb Dwarfism with Saddle Nose, Spinal Alterations, and Metaphyseal Striation
Short Limb Dwarfism with Saddle Nose, Spinal Alterations and Metaphyseal Striation
Spondylar and Nasal Alterations-Striated Metaphyses Syndrome
Dysplasia, Spondyloepimetaphyseal, Sponastrime Type
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Spondyloepimetaphyseal Dysplasia, Sponastrime Type, also known as sponastrime dysplasia, is related to metaphyseal dysplasia and spondyloepimetaphyseal dysplasia. An important gene associated with Spondyloepimetaphyseal Dysplasia, Sponastrime Type is TONSL (Tonsoku Like, DNA Repair Protein). Affiliated tissues include bone, and related phenotypes are depressed nasal bridge and abnormal facial shape
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MALACARDS
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