spastic paraplegia-precocious puberty syndrome
Findings
No curated finding names spastic paraplegia-precocious puberty syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Spastic paraplegia-precocious puberty syndrome is characterized by precocious puberty (due to Leydig cell hyperplasia), progressive spastic paraplegia and intellectual deficit. It has been described in two brothers. The fact that other family members displayed brisk reflexes and dysarthria suggested autosomal dominant inheritance with variable expression.
Definition from the Mondo Disease Ontology (MONDO:0008443), read 2026-09-29. CC BY 4.0.
Features
6 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Brisk reflexesHPOHP:0001348
- Frequent (30% to 79% of cases)
- DysarthriaHPOHP:0001260
- Frequent (30% to 79% of cases)
- Hyperplasia of the Leydig cellsHPOHP:0010791
- Frequent (30% to 79% of cases)
- Moderate intellectual disabilityHPOHP:0002342
- Frequent (30% to 79% of cases)
- Precocious puberty in malesHPOHP:0008185
- Frequent (30% to 79% of cases)
- Progressive spastic paraplegiaHPOHP:0007020
- Frequent (30% to 79% of cases)