Phenotypes associated with the disease Waardenburg syndrome type 4B (OMIM:613265):
- Heterochromia iridis (HP:0001100): Heterochromia iridis is a difference in the color of the iris in the two eyes. Evidence: IEA. (OMIM:613265)
- White forelock (HP:0002211): A triangular depigmented region of white hairs located in the anterior midline of the scalp. Evidence: IEA. (OMIM:613265)
- 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:613265)
- Hypopigmented skin patches (HP:0001053). Evidence: IEA. (OMIM:613265)
- 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:613265)
- Blue irides (HP:0000635): A markedly blue coloration of the iris. Evidence: IEA. (OMIM:613265)
- 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:613265)
- Premature graying of hair (HP:0002216): Development of gray hair at a younger than normal age. Evidence: IEA. (OMIM:613265)
- White eyelashes (HP:0002227): White color (lack of pigmentation) of the eyelashes. Evidence: IEA. (OMIM:613265)
- 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: IEA. (OMIM:613265)
- White eyebrow (HP:0002226): White color (lack of pigmentation) of the eyebrow. Evidence: IEA. (OMIM:613265)