| Metadata | |
|---|---|
| ID | DOID:0111859 |
| Name | midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis |
| 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. https://pubmed.ncbi.nlm.nih.gov/27811305/ |
| Xrefs | |
| Synonyms |
MFHIEN [EXACT] |
| Parent Relationships |
is_a syndrome |
| Subclass Logical Relationships |
has material basis in some X-linked recessive inheritance |