Phenotypes associated with the disease Spastic paraplegia-precocious puberty syndrome (ORPHA:2826):
- 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: Frequent (HP:0040282). (ORPHA:2826)
- Brisk reflexes (HP:0001348): Tendon reflexes that are noticeably more active than usual (conventionally denoted 3+ on clinical examination). Brisk reflexes may or may not indicate a neurological lesion. They are distinguished from hyperreflexia by the fact that hyerreflexia is characterized by hyperactive repeating (clonic) reflexes, which are considered to be always abnormal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2826)
- Moderate intellectual disability (HP:0002342): Moderate intellectual disability (ID) is defined as a type of ID characterized by moderately sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 35-49. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2826)
- Progressive spastic paraplegia (HP:0007020). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2826)
- Precocious puberty in males (HP:0008185): The onset of puberty before the age of 9 years in boys. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2826)
- Hyperplasia of the Leydig cells (HP:0010791): Hypertrophy or overdevelopment of the interstitial (Leydig) cells of the testis. These cells produce testosterone. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2826)