Lucas is a lovely little boy who lives in the UK with his parents, brother and sister. He is cheerful and inquisitive and has a great sense of humour. He is non-verbal and his behaviour can be very difficult at times but he is learning to read basic words, improving his Makaton signing and has started enjoying walks outdoors in quiet spaces.
Variant type: de novo
Clinical features: short stature, severe learning disability, autism, non-verbal, cryptorchidism, strabismus (squint), long sightedness, likely cortical visual impairment, mild hearing impairment, diastasis recti (gap in abdominal muscles), delayed bone age
Lucas's Mum also supports the US charitable non-profit - Louie's Huwe - for people like Lucas with HUWE1-related genetic conditions.