Phenotypes associated with the disease otoonychoperoneal syndrome (OMIM:259780):
- Abnormal nail morphology (HP:0001597): Abnormal structure or appearance of the nail. Evidence: IEA. (OMIM:259780)
- Hip contracture (HP:0003273): Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of the hip joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin. Evidence: TAS. (OMIM:259780)
- Prominent superior crus of antihelix (HP:0011247): Increased protrusion of the superior crus relative to the prominence of a normal antihelix stem. Evidence: TAS. (OMIM:259780)
- Motor delay (HP:0001270): A type of Developmental delay characterized by a delay in acquiring motor skills. Evidence: IEA. (OMIM:259780)
- Knee flexion contracture (HP:0006380): A type of knee joint contracture in which the knee is in a fixed bent (flexed) configuration such that it cannot be straightened actively or passively. Evidence: TAS. (OMIM:259780)
- Aplasia/Hypoplasia of the fibula (HP:0006492): Absence or underdevelopment of the fibula. Evidence: TAS. (OMIM:259780)
- 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:259780)
- Ankle flexion contracture (HP:0006466). Evidence: TAS. (OMIM:259780)
- Straight clavicle (HP:0006587): An abnormally straight configuration of the clavicle, a tubular bone which normally is doubly curved . Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:259780)
- Abnormality of the ear (HP:0000598): An abnormality of the ear. Evidence: IEA. (OMIM:259780)
- Macrotia (HP:0000400): Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective). Evidence: TAS. (OMIM:259780)
- Dolichocephaly (HP:0000268): An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture. Evidence: TAS. (OMIM:259780)
- Hypospadias (HP:0000047): Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum. Evidence: TAS. (OMIM:259780)
- Low-set ears (HP:0000369): Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear. Evidence: TAS. (OMIM:259780)
- Posteriorly rotated ears (HP:0000358): A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front). Evidence: TAS. (OMIM:259780)