Comprehensive, easy-to-understand information about this condition
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photosensitive trichothiodystrophy
MONDO:0002470
ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
MONDO:0008842
COFS syndrome
MONDO:0008926
Nijmegen breakage syndrome
MONDO:0009623
severe combined immunodeficiency due to DCLRE1C deficiency
MONDO:0011225
Nijmegen breakage syndrome-like disorder
MONDO:0013118