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 )

Relationships
is a type of: xeroderma pigmentosum