New recessive neurodevelopmental disorder identified

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New recessive neurodevelopmental disorder identified

The Basson laboratory in the Centre for Craniofacial & Regenerative Biology at King’s College London, together with colleagues at UCL GOS Institute of Child Health and University of Milan, have reported a rare neurodevelopmental condition characterized by intellectual disability, ataxia with cerebellar hypoplasia and delayed puberty with hypogonadotropic hypogonadism (HH).

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