child presenting with sever developmental delay. upon examination: seems very happy with frequent laughter, microencephally. Hx. of seizures
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Card 7
Front
child presenting with developmental delay. upon examination: long face, prominent ears and jaw. FHx. seizures, hypotonia
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Card 8
Front
60 yr old male presenting with intention tremor. FHx: mother with early menopause, niece under investigation for behavioural issues, reflux and joint laxity.
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Card 9
Front
30yr woman presenting with loss of libido and early menopause. FHx: child with hypotonia, seizures and scoliosis
