has material basis in germline mutation in RAD50 Nijmegen breakage syndrome-like disorder https://github.com/monarch-initiative/mondo/issues/5347 https://www.malacards.org/card/nijmegen_breakage_syndrome_like_disorder Orphanet:240760 MESH:C567767 OMIM:613078 NBs-like disorder RAD50 deficiency NBSLD MEDGEN:442700 Nijmegen breakage syndrome-like disorder is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by growth retardation, short stature, developmental delay, intellectual disability, craniofacial dysmorphism (i.e. severe microcephaly, sloping forehead, prominent eyes, broad nasal ridge, hypoplastic nasal septum, epicanthal folds), spontaneous chromosomal instability, cellular hypersensitivity to ionizing radiation and radioresistant DNA synthesis, without severe infections, immunodeficiency or cancer predisposition. Additional reported features include mild spasticity, slight and nonprogressive ataxia, hyperopia, multiple pigmented nevi, widely spaced nipples, and clinodactyly. Nijmegen breakage syndrome-like disorder icd11.foundation:1014526672 microcephaly and chromosomal instability without immunodeficiency NCIT:C153178 GARD:0017184 UMLS:C2751318 SCTID:766753005 MONDO:0013118 multiple congenital anomalies/dysmorphic syndrome without intellectual disability developmental anomaly of metabolic origin DNA repair disease