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Items: 2

1.

Mullegama-Klein-Martinez 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). [from OMIM]

MedGen UID:
1683985
Concept ID:
C5193008
Disease or Syndrome
2.

Apical muscular ventricular septal defect

A muscular ventricular septal defect located at the apex of the heart. [from HPO]

MedGen UID:
868854
Concept ID:
C4023264
Anatomical Abnormality

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