AMeD Syndrome

**Semantic type:** Disease or Syndrome

**Definition:** A digenic recessive condition caused by mutation(s) in the ADH5 gene accompanied by a specific mutation in the ALDH2 gene. It is characterized by global developmental delay, impaired intellectual development, bone marrow failure, and myelodysplastic syndrome.

**Synonyms:** - AMeDS - Aplastic Anemia, Intellectual Disability and Dwarfism Syndrome - Aplastic Anemia, Mental Retardation and Dwarfism Syndrome - BMFS7 - Bone Marrow Failure Syndrome 7, Digenic - Fanconi Anemia-Like IBMFS - Fanconi Anemia-Like Inherited Bone Marrow Failure Syndrome