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De Sanctis-Cacchione syndrome
Summary
- Synonym
-
- xeroderma pigmentosum with neurologic manifestation
- Definition
- A xeroderma pigmentosum characterized by xeroderma pigmentosum, short stature, intellectual disabilities, and progressive neurologic degeneration.
- Super Class
- xeroderma pigmentosum
External Links
- Disease Ontology
- DOID:0112158
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- GARD
