bn:00216795n
Noun Concept
NL
DeSanctis–Cacchione syndrome
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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