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 )

Relationships
is a type of: syndrome X-linked recessive disease