Acromelic Frontonasal Dysostosis (AFND)

Acromelic Frontonasal Dysostosis(来自ICD-11)

别称:

Afnd

Acromelic Frontonasal Dysplasia

Toriello Syndrome

Frontonasal Dysplasia Acromelic

Dysostosis, Acromelic Frontonasal

Sweet Syndrome

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Acromelic Frontonasal Dysostosis, also known as afnd, is related to frontonasal dysplasia 1 and kapur-toriello syndrome, and has symptoms including seizures An important gene associated with Acromelic Frontonasal Dysostosis is ZSWIM6 (Zinc Finger SWIM-Type Containing 6). Affiliated tissues include brain and bone, and related phenotypes are intellectual disability and agenesis of corpus callosum

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