Spastic paraplegia, retinal degeneration syndrome

disorder

SNOMED 764686003CUI C1849128

Overview

Spastic paraplegia, retinal degeneration 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.

Hypoplasia of corpus callosum

Very frequent (80-99%)HP:0002079

Abnormality of the cerebral white matter

Frequent (30-79%)HP:0002500

Axonal neuropathy

Frequent (30-79%)HP:0003477

Cerebellar signs

Frequent (30-79%)HP:0001317

Deep cerebral white matter hyperintensities

Frequent (30-79%)HP:0030892

Demyelinating peripheral neuropathy

Frequent (30-79%)HP:0007108

Difficulty articulating speech

Frequent (30-79%)HP:0001260

Dull intelligence

Frequent (30-79%)HP:0001249

Extensor plantar responses

Frequent (30-79%)HP:0003487

Extrapyramidal syndrome

Frequent (30-79%)HP:0002071

Gait disturbance

Frequent (30-79%)HP:0001288

Intellectual impairment

Frequent (30-79%)HP:0100543

Involuntary muscle stiffness, contraction, or spasm

Frequent (30-79%)HP:0001257

Involuntary, rapid, rhythmic eye movements

Frequent (30-79%)HP:0000639

Leg muscle stiffness

Frequent (30-79%)HP:0008969

Lower limb hyperreflexia

Frequent (30-79%)HP:0002395

Muscle weakness

Frequent (30-79%)HP:0001324

Pigmentary retinal deposits

Frequent (30-79%)HP:0000580

Poor bladder function

Frequent (30-79%)HP:0000009

Pseudobulbar palsy

Frequent (30-79%)HP:0007024

Retinal degeneration

Frequent (30-79%)HP:0000546

Retinal flecks

Frequent (30-79%)HP:0012045

Spastic paraplegia

Frequent (30-79%)HP:0001258

Spasticity of lower limb

Frequent (30-79%)HP:0002061

Upper extremity spasticity

Frequent (30-79%)HP:0006986

Upper limb muscle weakness

Frequent (30-79%)HP:0003484

Yellow/white lesions of the retina

Frequent (30-79%)HP:0030506

Behavioral changes

Occasional (5-29%)HP:0000708

Diabetes mellitus

Occasional (5-29%)HP:0000819

Distal muscle atrophy, upper and lower limbs

Occasional (5-29%)HP:0003693

Related Conditions

Complicated hereditary spastic paraplegia(parent)

Autosomal recessive hereditary spastic paraplegia(parent)

Quick Facts

SNOMED CT: 764686003
UMLS CUI: C1849128
Fully Specified Name: Autosomal recessive spastic paraplegia type 15 (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30

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.