Spastic paraplegia with precocious puberty syndrome

disorder

SNOMED 732958004CUI C4518543

Overview

Spastic paraplegia with precocious puberty syndrome is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Brisk deep tendon reflexes

Frequent (30-79%)HP:0001348

Difficulty articulating speech

Frequent (30-79%)HP:0001260

Early onset of puberty in males

Frequent (30-79%)HP:0008185

Hyperplasia of the Leydig cells

Frequent (30-79%)HP:0010791

Moderate mental retardation

Frequent (30-79%)HP:0002342

Progressive spastic paraplegia

Frequent (30-79%)HP:0007020

Related Conditions

Hereditary disorder of endocrine system(parent)

Reproductive system hereditary disorder(parent)

Precocious puberty(parent)

Developmental hereditary disorder(parent)

Chronic disorder of genitourinary system(parent)

Autosomal dominant complex hereditary spastic paraplegia(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 732958004
UMLS CUI: C4518543
Fully Specified Name: Spastic paraplegia with precocious puberty syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 6

Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.