Autosomal recessive spastic paraplegia type 46

disorder

SNOMED 723822009CUI C2828721

Overview

Autosomal recessive spastic paraplegia type 46 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

Always present (100%)HP:0002079

Lower limb muscle weakness

Always present (100%)HP:0007340

Spastic paraplegia

Always present (100%)HP:0001258

Ataxia

Very frequent (80-99%)HP:0001251

Extensor plantar responses

Very frequent (80-99%)HP:0003487

Gait disturbance

Very frequent (80-99%)HP:0001288

Lens opacities

Very frequent (80-99%)HP:0000518

Spasticity of lower limb

Very frequent (80-99%)HP:0002061

Atrophic cerebellum

Frequent (30-79%)HP:0001272

Atrophy of the corpus callosum

Frequent (30-79%)HP:0007371

Cerebral cortex atrophy

Frequent (30-79%)HP:0002120

Cortical white matter abnormalities seen on MRI

Frequent (30-79%)HP:0002500

Difficulty articulating speech

Frequent (30-79%)HP:0001260

Intellectual impairment

Frequent (30-79%)HP:0100543

Supratentorial atrophy

Frequent (30-79%)HP:0002059

Abnormality of the sinew

Occasional (5-29%)HP:0100261

Axonal neuropathy

Occasional (5-29%)HP:0003477

Cavus foot

Occasional (5-29%)HP:0001761

Corticospinal signs

Occasional (5-29%)HP:0007256

Deafness

Occasional (5-29%)HP:0000365

Decreased testicular size

Occasional (5-29%)HP:0008734

Decreased vibration sense in feet

Occasional (5-29%)HP:0006938

Distal sensory loss, especially vibratory sense

Occasional (5-29%)HP:0002166

Head tremor

Occasional (5-29%)HP:0002346

Hunched back

Occasional (5-29%)HP:0002808

Impaired vibratory sensation

Occasional (5-29%)HP:0002495

Increased reflexes

Occasional (5-29%)HP:0001347

Infertility

Occasional (5-29%)HP:0000789

Instability or lack of coordination of central trunk muscles

Occasional (5-29%)HP:0002078

Jerky ocular pursuit movements

Occasional (5-29%)HP:0008003

Related Conditions

Complicated hereditary spastic paraplegia(parent)

Autosomal recessive hereditary spastic paraplegia(parent)

Quick Facts

SNOMED CT: 723822009
UMLS CUI: C2828721
Fully Specified Name: Autosomal recessive spastic paraplegia type 46 (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.