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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
Charlevoix-Saguenay spastic ataxia
MONDO:0010041
ataxia and polyneuropathy, adult-onset
MONDO:0010781