Phenotypes associated with the disease Kennedy disease (ORPHA:481):
- Testicular atrophy (HP:0000029): Wasting (atrophy) of the testicle (the male gonad) manifested by a decrease in size and potentially by a loss of fertility. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:481)
- Decreased fertility (HP:0000144). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:481)
- Gynecomastia (HP:0000771): Abnormal development of large mammary glands in males resulting in breast enlargement. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:481)
- Hypotonia (HP:0001252): Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:481)
- Dysarthria (HP:0001260): Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:481)
- Hyporeflexia (HP:0001265): Reduction of neurologic reflexes such as the knee-jerk reaction. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:481)
- Gait disturbance (HP:0001288): The term gait disturbance can refer to any disruption of the ability to walk. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:481)
- Dysphonia (HP:0001618): Difficulty in speaking due to a physical disorder of the mouth, tongue, throat, or vocal cords. Associated with a known physical or neurological cause. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:481)
- Abnormal circulating lipid concentration (HP:0003119): Any deviation from the normal concentration of a lipid in the blood circulation. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:481)
- Skeletal muscle atrophy (HP:0003202): The presence of skeletal muscular atrophy (which is also known as amyotrophy). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:481)
- Type II diabetes mellitus (HP:0005978): A type of diabetes mellitus initially characterized by insulin resistance and hyperinsulinemia and subsequently by glucose interolerance and hyperglycemia. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:481)
- Abnormality of movement (HP:0100022): An abnormality of movement with a neurological basis characterized by changes in coordination and speed of voluntary movements. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:481)
- Erectile dysfunction (HP:0100639): A multidimensional but common male sexual dysfunction that involves an alteration in any of the components of the erectile response, including organic, relational and psychological. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:481)