PHEOBE'S STORY

Pheobe was born in 2010 at 37 weeks due to growth failure weighing 4 pounds 4 ounces and measuring on the 0.4 centile. She was diagnosed with the HUWE1 variant in 2013 but at first was told it was not the cause of her problems until it was confirmed recently in the 100,000 genome project. She loves music and lights up any room when she enters it.

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Born: 2010

Variant type: de novo

Clinical features: short stature, talapies on right foot, hypotonia (trunk), hypertonia (calf muscles/neck), flat feet, dysmorphic features, microcephaly, learning disability, small hands and feet