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ENOrofaciodigital Syndrome Vii (OFD7)
Alias:
Whelan Syndrome
Ofd7
Oral-Facial-Digital Syndrome, Type Vii
Ofds Vii
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Orofaciodigital Syndrome Vii, also known as whelan syndrome, is related to anus, imperforate and acrocallosal syndrome. An important gene associated with Orofaciodigital Syndrome Vii is TMEM216 (Transmembrane Protein 216), and among its related pathways/superpathways are Bardet-Biedl syndrome and Ciliopathies.
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