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We describe a 15\u2010month\u2010old girl with a 1,140\u2009kb homozygous deletion in the Down Syndrome Critical Region at 21q22.2 including 4 genes; <jats:italic>B3GALT5, IGSF5, PCP4, DSCAM<\/jats:italic>, and a microRNA (<jats:italic>MIR4760<\/jats:italic>). Clinical singleton genome sequencing did not report any candidate gene variants for the patient's phenotype. She presented with hypotonia, global developmental delay, cortical visual impairment, and mild facial dysmorphism. Ophthalmological exam was suggestive of retinopathy. We propose that the absence of <jats:italic>DSCAM<\/jats:italic> and <jats:italic>PCP4<\/jats:italic> may contribute to the patient's neurological and retinal phenotype, while the role of absent <jats:italic>B3GALT5<\/jats:italic> and <jats:italic>IGSF5<\/jats:italic> in her presentation remain unclear at this time.<\/jats:p>","DOI":"10.1002\/ajmg.a.61969","type":"journal-article","created":{"date-parts":[[2020,11,10]],"date-time":"2020-11-10T22:03:49Z","timestamp":1605045829000},"page":"555-560","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Homozygous deletion of 21q22.2 in a patient with hypotonia, developmental delay, cortical visual impairment, and retinopathy"],"prefix":"10.1002","volume":"185","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6254-5925","authenticated-orcid":false,"given":"Clara","family":"Hildebrandt","sequence":"first","affiliation":[{"name":"Medical Biochemical Fellowship at Boston 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