has material basis in germline mutation in RNU4ATAC syndromic disease hereditary disease RNU4ATAC spectrum disorder https://github.com/monarch-initiative/mondo/issues/7497 https://github.com/monarch-initiative/mondo/issues/8511 A syndromic disease characterized by growth restriction, microcephaly, skeletal dysplasia, and cognitive impairment. Less common but variable findings include brain anomalies, seizures, strokes, immunodeficiency, and cardiac anomalies, as well as ophthalmologic, skin, renal, gastrointestinal, hearing, and endocrine involvement. The term includes Microcephalic osteodysplastic primordial dwarfism type I/III (MOPDI), Taybi-Linder syndrome, Lowry-Wood syndrome, and Roifman syndrome. RNU4atac-opathy MONDO:0100558 GARD:0027275 RNU4ATAC-related disorder