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These variants led to a broad range of clinical manifestations ranging from congenital type of AGS displaying congenital microcephaly, severe developmental delay, spasticity, basal ganglia calcification, white matter abnormalities and early lethality up to infantile or juvenile onset with a broader phenotypic spectrum of AGS with severe to mild disease, including a form of spastic paraparesis. More recently, these variants have been reported to be associated with rare extra\u2010neurologic presentations. In this report, we present two patients with homozygous pathogenic variants in <jats:italic>RNASEH2B<\/jats:italic> (p.Ala177Thr) and <jats:italic>SAMHD1<\/jats:italic> (p.Arg442Ter). The first patient showed persistent arthropathy livedo reticularis, intermittent fever and hepatosplenomegaly, whereas the second had late onset of muscle spasms, impaired calcium\/phosphorus homeostasis, severe and progressive intracranial calcification and chilblains. The two patients had average intelligence. We believe to be the first time; an idiopathic hypoparathryroidism is associated with pathogenic variant of <jats:italic>SAMHD1<\/jats:italic>. As such, this extends the phenotypes linked to <jats:italic>SAMHD1<\/jats:italic> (likely) pathogenic variants. We also summarize the extra\u2010neurologic manifestations associated with AGS genes\u2010related disorders. Thus, by facilitating early diagnosis, counselling and health surveillance of these patients are improved.<\/jats:p>","DOI":"10.1002\/jdn.70019","type":"journal-article","created":{"date-parts":[[2025,4,30]],"date-time":"2025-04-30T08:29:34Z","timestamp":1746001774000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["New Phenotypes Associated With Pathogenic <i>RNASEH2B<\/i> and <i>SAMHD1<\/i> Variants"],"prefix":"10.1002","volume":"85","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2893-8802","authenticated-orcid":false,"given":"Ghada\u00a0M.\u00a0H.","family":"Abdel\u2010Salam","sequence":"first","affiliation":[{"name":"Clinical Genetics Department, Human Genetics and Genome Research Institute National Research Centre  Cairo Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maha","family":"Eid","sequence":"additional","affiliation":[{"name":"Human Cytogenetics Department, Human Genetics 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