- Retinal pigment epithelial mottling (HP:0007814): Mottling (spots or blotches of different shades) of the retinal pigment epithelium, i.e., localized or generalized fundus pigment granularity associated with processes at the level of the retinal pigment epithelium. Evidence: PCS. Frequency: 7/12. (PMID:26387595)
- Amelogenesis imperfecta (HP:0000705): A developmental dysplasia of the dental enamel. Evidence: PCS. Frequency: 14/14. (PMID:26387595)
- Sensorineural hearing impairment (HP:0000407): A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. Evidence: PCS. Frequency: 14/14. (PMID:26387595)
- Enamel hypoplasia (HP:0006297): Developmental hypoplasia of the dental enamel. Evidence: PCS. Frequency: 14/14. (PMID:26387595)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 14/14. (PMID:26387595)
- 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: PCS. (PMID:26387595)
- Macular dystrophy (HP:0007754): Macular dystrophy is a nonspecific term for retinal degeneration, generally confined to the macula, usually presumed of genetic origin. Evidence: PCS. Frequency: 2/12. (PMID:26387595)
- Beau's lines (HP:0041093): A nail dystrophy that is preseents as grooved lines that run from side to side on the fingernail or the toenail that may look like indentations or ridges on the nail plate. They are caused by temporary disruption in the growth of proximal nail matrix. Trauma is usually the initiating factor such as infections, severe medical illnesses, major surgery/anesthesia, medication side effects, and autoimmune disease. Evidence: PCS. Frequency: 7/14. (PMID:26387595)
- Intellectual disability (HP:0001249): The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence. Evidence: PCS. Frequency: 0/14. (PMID:26387595)
- Leukonychia (HP:0001820): White discoloration of the nails. Evidence: PCS. Frequency: 4/14. (PMID:26387595)
These phenotypes are associated with the disease peroxisome biogenesis disorder due to PEX1 defect (OMIM:234580).