- Congenital conductive hearing impairment (HP:0008591): A type of conductive deafness with congenital onset. Evidence: PCS. (PMID:6476090)
- Abnormality of the middle ear ossicles (HP:0004452): An abnormality of the middle-ear ossicles (three small bones called malleus, incus, and stapes) that are contained within the middle ear and serve to transmit sounds from the air to the fluid-filled labyrinth (cochlea). Evidence: PCS. (PMID:6476090)
- Absent stapes head (HP:0200111). Evidence: TAS. (OMIM:128980)
- Abnormal malleus morphology (HP:0011454): An abnormality of the malleus, an ossicle in the middle ear. Evidence: PCS. (PMID:6476090)
- Bilateral conductive hearing impairment (HP:0008513): A bilateral type of conductive hearing impairment. Evidence: PCS. (PMID:6476090)
- Abnormal pinna morphology (HP:0000377): An abnormality of the pinna, which is also referred to as the auricle or external ear. Evidence: PCS. (PMID:6476090)
- Autosomal dominant inheritance (HP:0000006): 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:6476090)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: PCS. (PMID:6476090)
These phenotypes are associated with the disease thickened earlobes-conductive deafness syndrome (OMIM:128980).