| Disease ID | Source | Name | Description |
| 300990 | OMIM | Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis (MFHIEN) | An X-linked recessive disorder with onset in early childhood, characterized by midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis. Variable clinical features include anemia, and mild early motor or speech delay. The disease is caused by variants affecting the gene represented in this entry. |
| 300194 | OMIM | Alport syndrome with mental retardation, midface hypoplasia and elliptocytosis (ATS-MR) | An X-linked contiguous gene deletion syndrome characterized by glomerulonephritis, sensorineural hearing loss, mental retardation, midface hypoplasia and elliptocytosis. The gene represented in this entry may be involved in disease pathogenesis. |