Term Name: | De Sanctis-Cacchione syndrome |
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Synonyms: | xeroderma pigmentosum with neurologic manifestation |
Definition: | A xeroderma pigmentosum characterized by xeroderma pigmentosum, short stature, intellectual disabilities, and progressive neurologic degeneration. |
Ontology: | Human Disease [DOID:0112158] ( DOID:0112158 ) |