- Diabetes insipidus and mellitus with optic atrophy and deafness
- DIDMOAD syndrome
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Other signs and symptoms of Wolfram syndrome type 1 may include:
- Urinary tract abnormalities
- Ataxia (problems with coordination and balance)
- Loss of sense of smell
- Loss of gag reflex
- Myoclonus (muscle spasms)
- Peripheral neuropathy
- Impulsive and/or aggressive behavior
- Gastrointestinal problems
- Intellectual disability
- Central apnea and central respiratory failure
- Hypogonadism in males (reduced amounts of the sex hormone testosterone)
In addition to the signs and symptoms found in Wolfram syndrome type 1, people with Wolfram syndrome type 2 may also have stomach and/or intestinal ulcers; and a tendancy to bleed excessivly after injuries.
The Human Phenotype Ontology provides the following list of signs and symptoms for Wolfram syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.
The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.
The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.
Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
- Wolfram syndrome. Genetics Home Reference. 2012; http://ghr.nlm.nih.gov/condition/wolfram-syndrome. Accessed 1/21/2014.
- Wolfram syndrome. Orphanet. September 2014; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3463.
- Wolfram Syndrome. NORD. May 2008; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/850/viewFullReport.