bn:00216795n
Noun Concept
FR
syndrome de De Sanctis-Cacchione  Xeroderma pigmentosum groupe D
EN
DeSanctis–Cacchione syndrome is a genetic disorder characterized by the skin and eye symptoms of xeroderma pigmentosum occurring in association with microcephaly, progressive intellectual disability, slowed growth and sexual development, deafness, choreoathetosis, ataxia and quadriparesis. Wikipedia
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