Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis is an X-linked recessive disorder with onset of features in early childhood. Anemia is sometimes present. Some patients may show mild early motor or speech delay, but cognition is normal (summary by Andreoletti et al., 2017). [from OMIM]
- MedGen UID:
- 934777
- •Concept ID:
- C4310810
- •
- Disease or Syndrome