C131677Level 9
Megaloblastic Anemia 1
**Semantic type:** Disease or Syndrome
**Definition:** An autosomal recessive disorder caused by mutations in the CUBN or AMN genes. It is characterized by vitamin B12 deficiency due to selective malabsorption of the vitamin, and usually results in megaloblastic anemia appearing in childhood (but not immediately after birth).
**Synonyms:** - Imerslund-Gräsbeck Syndrome - Juvenile Megaloblastic Anemia - MGA-1
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