| Term Name: | De Sanctis-Cacchione syndrome |
|---|---|
| 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 ) |