Thursday evening
The formal “unknown” session is open to clinical reports of patients with no diagnosis, or single patients with novel array or exome results, but without definitive demonstration of pathogenicity.

• Abstracts for formal “unknowns” are to be submitted prior to the meeting.
• Presentations are expected to be in ppt ot pptx file formats.
• Each case presentation is allocated 7 minutes (maximum 15 slides).
• Avoid text-only slides.
• Do not describe dysmorphic signs – show them ! Focus on significant points
• Summarize relevant investigations