de Sanctis-Cacchione syndrome
A rare autosomal recessive inherited syndrome. It is characterized by xeroderma pigmentosum, mental retardation, dwarfism, hypogonadism, and neurologic abnormalities.
MONDO:0002254
syndromic disease
is_a
MONDO:0003847
hereditary disease
is_a
De Sanctis Cacchione Syndrome
exact
de Sanctis-Cacchione syndrome
exact
xerodermic idiocy
related
SPCP25A2.02c