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Kabuki Syndrome: International Consensus Diagnostic Criteria.pdf

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Preview of Kabuki syndrome: international consensus diagnostic criteria
🔗 Source: allthingskabuki.org
📊 Size: 1.17 MB
📄 Pages: 7 pages
⬇️ Downloads: 91

Summary

Kabuki syndrome (KS) is a multiple congenital anomaly/intellectual disability disorder with characteristic facial features, skeletal anomalies, and intellectual disability. An international group of experts proposes consensus diagnostic criteria for KS, including a definitive diagnosis based on infantile hypotonia, developmental delay, and/or intellectual disability, along with a pathogenic variant in KMT2D or KDM6A or typical dysmorphic features. The criteria also include probable and possible diagnoses based on suggestive clinical features. The development of targeted therapies for KS highlights the importance of accurate diagnosis, which can be made with or without molecular genetic confirmation.

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Description

Kabuki syndrome (KS) is a multiple congenital anomaly/intellectual disability disorder with characteristic facial features, skeletal anomalies, and...

Technical Information

  • File Format: PDF
  • File Size: 1.17 MB
  • Pages: 7
  • Language: EN
  • Total Downloads: 91
  • Last Updated: 2 weeks ago

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