Autosomal recessive spastic paraplegia type 48

disorder

SNOMED 763367009CUI C3150901

Overview

Autosomal recessive spastic paraplegia type 48 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.

Spastic paraplegia

Always present (100%)HP:0001258

Thinning of the corpus callosum

Always present (100%)HP:0033725

Hypoplasia of corpus callosum

Very frequent (80-99%)HP:0002079

Progressive spastic paraplegia

Very frequent (80-99%)HP:0007020

Cervical vertebral anomalies

Frequent (30-79%)HP:0003319

Dysmetria

Frequent (30-79%)HP:0001310

Elevated circulating creatine phosphokinase

Frequent (30-79%)HP:0003236

Hyperintensity of cerebral white matter on MRI

Frequent (30-79%)HP:0030890

Increased reflexes

Frequent (30-79%)HP:0001347

Intellectual impairment

Frequent (30-79%)HP:0100543

Involuntary jerking movements

Frequent (30-79%)HP:0001336

Lower limb muscle weakness

Frequent (30-79%)HP:0007340

Mental deficiency

Frequent (30-79%)HP:0001249

Mental retardation, mild

Frequent (30-79%)HP:0001256

Periventricular white matter hyperintensities

Frequent (30-79%)HP:0030891

Psychomotor development deficiency

Frequent (30-79%)HP:0001263

Spastic paraparesis

Frequent (30-79%)HP:0002313

Spasticity of lower limb

Frequent (30-79%)HP:0002061

Sphincter disturbances

Frequent (30-79%)HP:0002839

Urinary incontinence

Frequent (30-79%)HP:0000020

Walking on tiptoes

Frequent (30-79%)HP:0030051

Wide based walk

Occasional (5-29%)HP:0002136

Ataxia

HP:0001251

Intellectual deterioration

HP:0001268

Neuropathy

HP:0009830

Noninflammatory retina disease

HP:0000488

Parkinsonian disease

HP:0001300

Spastic walk

HP:0002064

Related Conditions

Autosomal recessive hereditary spastic paraplegia(parent)

Quick Facts

SNOMED CT: 763367009
UMLS CUI: C3150901
Fully Specified Name: Autosomal recessive spastic paraplegia type 48 (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 28

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.