4A01.31
category
DNA repair defects other than combined T-cell or B-cell immunodeficiencies
Also indexed as
AT V1- [Ataxia-telangiectasia, variant 1]ATLD - [Ataxia-telangiectasia-like disorder]Ataxia-telangiectasiaAtaxia-telangiectasia, variant 1Ataxia-telangiectasia-like disorderAutosomal recessive nonsyndromal microcephaly with normal intelligenceBerlin breakage syndromeBloom Machacek syndromeBloom syndromeBloom-Torre-Machacek syndromeDNA repair defects other than combined T-cell or B-cell immunodeficienciesImmunodeficiency - microcephaly - chromosomal instabilityLouis-Bar syndromeMicrocephaly - immunodeficiency - lymphoreticulomaMicrocephaly or chromosomal instability without immunodeficiencyNBS - [Nijmegen breakage syndrome]NBS-like disorderNBSLD - [Nijmegen breakage syndrome-like disorder]Nijmegen breakage syndromeNijmegen breakage syndrome-like disorderSeemanova syndrome type 2