Phenotypes associated with the disease Tietz syndrome (OMIM:103500):
- Heterochromia iridis (HP:0001100): Heterochromia iridis is a difference in the color of the iris in the two eyes. Evidence: PCS. Frequency: 0/11. (PMID:10851256)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 11/11. (PMID:10851256)
- Blue irides (HP:0000635): A markedly blue coloration of the iris. Evidence: PCS. Frequency: 11/11. (PMID:10851256)
- Fundus hypopigmentation (HP:0007894): Generalized or focal reduced pigmentation of the fundus, evaluated in the context of skin and hair color. Fundoscopy may reveal a low level pigment. Evidence: PCS. Frequency: 11/11. (PMID:10851256)
- White eyelashes (HP:0002227): White color (lack of pigmentation) of the eyelashes. Evidence: PCS. Frequency: 11/11. (PMID:10851256)
- Generalized hypopigmentation (HP:0007513). Evidence: PCS. Frequency: 11/11. (PMID:10851256)
- 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:10851256)
- Congenital sensorineural hearing impairment (HP:0008527): A type of hearing impairment caused by an abnormal functionality of the cochlear nerve with congenital onset. Evidence: PCS. Frequency: 11/11. (PMID:10851256)
- White eyebrow (HP:0002226): White color (lack of pigmentation) of the eyebrow. Evidence: PCS. Frequency: 11/11. (PMID:10851256)