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Items: 2

1.

DE SANCTIS-CACCHIONE SYNDROME

A rare autosomal recessive inherited syndrome. It is characterized by xeroderma pigmentosum, mental retardation, dwarfism, hypogonadism, and neurologic abnormalities. [from NCI]

MedGen UID:
75550
Concept ID:
C0265201
Disease or Syndrome
2.

Gonadal hypoplasia

MedGen UID:
65992
Concept ID:
C0239761
Congenital Abnormality; Finding

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