- Heterochromia iridis (HP:0001100): Heterochromia iridis is a difference in the color of the iris in the two eyes. Evidence: IEA. (OMIM:613266)
- White forelock (HP:0002211): A triangular depigmented region of white hairs located in the anterior midline of the scalp. Evidence: IEA. (OMIM:613266)
- Hypopigmented skin patches (HP:0001053). Evidence: IEA. (OMIM:613266)
- Aganglionic megacolon (HP:0002251): An abnormality resulting from a lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) that results in bowel obstruction with enlargement of the colon. Evidence: IEA. (OMIM:613266)
- 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: IEA. (OMIM:613266)
- Blue irides (HP:0000635): A markedly blue coloration of the iris. Evidence: IEA. (OMIM:613266)
- Anosmia (HP:0000458): An inability to perceive odors. This is a general term describing inability to smell arising in any part of the process of smelling from absorption of odorants into the nasal mucous overlying the olfactory epithelium, diffusion to the cilia, binding to olfactory receptor sites, generation of action potentials in olfactory neurons, and perception of a smell. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:613266)
- Premature graying of hair (HP:0002216): Development of gray hair at a younger than normal age. Evidence: IEA. (OMIM:613266)
- White eyelashes (HP:0002227): White color (lack of pigmentation) of the eyelashes. Evidence: IEA. (OMIM:613266)
- Lacrimal gland hypoplasia (HP:0007732): Underdevelopment of the lacrimal gland. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:613266)
- Hypogonadism (HP:0000135): A decreased functionality of the gonad. Evidence: IEA. (OMIM:613266)
- 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:9462749)
- Cryptorchidism (HP:0000028): Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum. Evidence: IEA. (OMIM:613266)
- White eyebrow (HP:0002226): White color (lack of pigmentation) of the eyebrow. Evidence: IEA. (OMIM:613266)
These phenotypes are associated with the disease Waardenburg syndrome type 4C (OMIM:613266).