Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, and Brachydactyly

Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, and Brachydactyly(来自ICD-11)

别称:

Bork Syndrome

Uncombable Hair-Retinal Pigmentary Dystrophy-Dental Anomalies-Brachydactyly Syndrome

Tricho-Retino-Dento-Digital Syndrome

Bork Stender Schmidt Syndrome

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, and Brachydactyly, also known as bork syndrome, is related to uncombable hair syndrome 1 and hypotrichosis 7. Affiliated tissues include skin and eye, and related phenotypes are abnormality of the dentition and abnormality of retinal pigmentation

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