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ENSiddiqi Syndrome (SIDDIS)
Alias:
Siddis
Deafness, Dystonia, Developmental Delay, and Poor Growth
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Siddiqi Syndrome, also known as siddis, is related to glucosephosphate dehydrogenase deficiency. An important gene associated with Siddiqi Syndrome is FITM2 (Fat Storage Inducing Transmembrane Protein 2). Affiliated tissues include skin, and related phenotypes are global developmental delay and sensorineural hearing impairment
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Basic Information
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MALACARDS
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MGI
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IF
