Term Name: | midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis |
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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 ) |