C124844Level 6
Dyggve-Melchior-Clausen Syndrome
**Semantic type:** Disease or Syndrome
**Definition:** A rare, autosomal recessive inherited syndrome caused by mutations in the DYM gene. It is characterized by abnormal skeletal development, microcephaly, and intellectual disability.
**Synonyms:** - DMC - Dyggve-Melchior-Clausen Disease
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