Phenotypes associated with the disease Waardenburg syndrome type 2A (OMIM:193510):
- Heterochromia iridis (HP:0001100): Heterochromia iridis is a difference in the color of the iris in the two eyes. Evidence: PCS. Frequency: 4/14. (PMID:34323021;PMID:7874167)
- Albinism (HP:0001022): An abnormal reduction in the amount of pigmentation (reduced or absent) of skin, hair and eye (iris and retina). Evidence: TAS. Onset: Congenital onset (HP:0003577). (OMIM:193510)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 8/8. (PMID:7874167)
- Wide nasal bridge (HP:0000431): Increased breadth of the nasal bridge (and with it, the nasal root). Evidence: IEA. (OMIM:193510)
- Underdeveloped nasal alae (HP:0000430): Thinned, deficient, or excessively arched ala nasi. Evidence: IEA. (OMIM:193510)
- White forelock (HP:0002211): A triangular depigmented region of white hairs located in the anterior midline of the scalp. Evidence: PCS. Frequency: 3/8. (PMID:7874167)
- 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: 12/14. Onset: Congenital onset (HP:0003577). (PMID:34323021;PMID:7874167)
- Hypoplastic iris stroma (HP:0007990): Underdevelopment of the stroma of iris. Evidence: IEA. (OMIM:193510)
- Partial albinism (HP:0007443): Absence of melanin pigment in various areas, which is found at birth and is permanent. The lesions are known as leucoderma and are often found on the face, trunk, or limbs. Evidence: IEA. (OMIM:193510)
- Numerous pigmented freckles (HP:0007587). Evidence: PCS. Frequency: 5/6. (PMID:34323021)
- Premature graying of hair (HP:0002216): Development of gray hair at a younger than normal age. Evidence: PCS. Frequency: 8/8. (PMID:7874167)
- Synophrys (HP:0000664): Meeting of the medial eyebrows in the midline. Evidence: IEA. (OMIM:193510)
- White eyelashes (HP:0002227): White color (lack of pigmentation) of the eyelashes. Evidence: PCS. (OMIM:193510)
- 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:7874167)
- White eyebrow (HP:0002226): White color (lack of pigmentation) of the eyebrow. Evidence: PCS. (OMIM:193510)