Potocki-Lupski Syndrome OMIM# 610883

Facial Gestalt

Visualization generated by Face2Gene.

 

Genetics

• Duplication of 17p11.2

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Key Features

  • Infantile muscular hypotonia
  • Oral-pharyngeal dysphagia
  • Failure to thrive
  • Global developmental delay
  • Sleep apnea
  • Congenital heart disease

London Medical Databases:
Potocki-Lupski Syndrome
OMIM# 610883

 

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Visualization of Facial Features

 

Facial Features Over Time