| Term Name: | midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis |
|---|---|
| Synonyms: | MFHIEN |
| Definition: | A syndrome characterized by midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis that has_material_basis_in hemizygous mutation in the AMMECR1 gene on chromosome Xq23. |
| Ontology: | Human Disease [DOID:0111859] ( DOID:0111859 ) |