Phenotypes associated with the disease epiphyseal dysplasia of femoral head, myopia, and deafness (OMIM:226950):
- Hearing impairment (HP:0000365): A decreased magnitude of the sensory perception of sound. Evidence: IEA. (OMIM:226950)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: IEA. (OMIM:226950)
- High myopia (HP:0011003): A severe form of myopia with greater than -6.00 diopters. Evidence: IEA. (OMIM:226950)
- Abnormality of the epiphysis of the femoral head (HP:0010574): Any abnormality of the proximal epiphysis of the femur. Evidence: IEA. (OMIM:226950)
- Epiphyseal dysplasia (HP:0002656). Evidence: IEA. (OMIM:226950)