Orofaciodigital Syndrome Xvii (OFD17)

Orofaciodigital Syndrome Xvii(来自ICD-11)

别称:

Orofaciodigital Syndrome 17

Oral-Facial-Digital Syndrome, Type Xvii

Ofds Xvii

Ofd17

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Orofaciodigital Syndrome Xvii, also known as orofaciodigital syndrome 17, is related to juvenile nephronophthisis and nephronophthisis. An important gene associated with Orofaciodigital Syndrome Xvii is INTU (Inturned Planar Cell Polarity Protein). Affiliated tissues include tongue, and related phenotypes are short neck and hearing impairment

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