Mullegama-Klein-Martinez syndrome- MedGen UID:
- 1683985
- •Concept ID:
- C5193008
- •
- Disease or Syndrome
Mullegama-Klein-Martinez syndrome (MKMS) is an X-linked recessive disorder with features of microcephaly, microtia, hearing loss, developmental delay, dysmorphic features, congenital heart defect, and digit abnormalities. Females are generally affected more severely than males (Mullegama et al., 2019).