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De Sanctis-Cacchione syndrome
rareA rare autosomal recessive inherited syndrome. It is characterized by xeroderma pigmentosum, mental retardation, dwarfism, hypogonadism, and neurologic abnormalities.
- Identifiers
- MONDO:0010217 OMIM:278800Orphanet:1569
- Causal genes
- ERCC6
- Also known as
- De Sanctis Cacchione Syndrome · xerodermic idiocy
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