The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Abnormality of the anterior chamber||90%|
|Aplasia/Hypoplasia of the eyebrow||90%|
|Hypopigmentation of hair||90%|
|Autosomal dominant inheritance||-|
|Bilateral sensorineural hearing impairment||-|
|Congenital sensorineural hearing impairment||-|
|Hypopigmentation of the fundus||-|
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
My adopted daughter has blue eyes, dark reddish hair and is profoundly deaf. Her skin is pale, but not typical "albinic". I wonder if she might have Tietz syndrome. How is this condition diagnosed? See answer