Autosomal recessive spastic paraplegia type 11

disorder

SNOMED 715491000CUI C2931821

Overview

Source: MedlinePlus.gov, National Library of Medicine. 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

Intellectual deterioration

Very frequent (80-99%)HP:0001268

Lower limb muscle weakness

Very frequent (80-99%)HP:0007340

Mental retardation, mild

Very frequent (80-99%)HP:0001256

Nerve damage causing decreased feeling and movement

Very frequent (80-99%)HP:0007141

Partial paralysis of legs

Very frequent (80-99%)HP:0002385

Peripheral axonal neuropathy

Very frequent (80-99%)HP:0003477

Peripheral motor neuropathy

Very frequent (80-99%)HP:0007178

Spasticity, progressive

Very frequent (80-99%)HP:0002191

Specific learning disability

Very frequent (80-99%)HP:0001328

Abnormality of pattern visual evoked potentials

Frequent (30-79%)HP:0030455

Ataxia

Frequent (30-79%)HP:0001251

Behavioural/Psychiatric abnormality

Frequent (30-79%)HP:0000708

Cerebral cortex atrophy

Frequent (30-79%)HP:0002120

Deglutition disorder

Frequent (30-79%)HP:0002015

Difficulty articulating speech

Frequent (30-79%)HP:0001260

Dilatation of lateral cerebral ventricles

Frequent (30-79%)HP:0006956

EMG: axonal abnormality

Frequent (30-79%)HP:0003482

EMG: neuropathic changes

Frequent (30-79%)HP:0003445

Emotional lability

Frequent (30-79%)HP:0000712

Frontal cortex degeneration

Frequent (30-79%)HP:0006913

Gait disturbance

Frequent (30-79%)HP:0001288

Hyperintensity of cerebral white matter on MRI

Frequent (30-79%)HP:0030890

Inability to walk

Frequent (30-79%)HP:0002540

Involuntary, rapid, rhythmic eye movements

Frequent (30-79%)HP:0000639

Memory loss

Frequent (30-79%)HP:0002354

Poor attention span

Frequent (30-79%)HP:0000736

Saccadic slow pursuit

Frequent (30-79%)HP:0001152

Upper limb hyperreflexia

Frequent (30-79%)HP:0007350

Abnormality of the substantia nigra

Occasional (5-29%)HP:0045007

Related Conditions

Complicated hereditary spastic paraplegia(parent)

Autosomal recessive hereditary spastic paraplegia(parent)

Quick Facts

SNOMED CT: 715491000
UMLS CUI: C2931821
Fully Specified Name: Autosomal recessive spastic paraplegia type 11 (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.