Autosomal recessive spastic paraplegia type 18

disorder

SNOMED 732932004CUI C2749936

Overview

Autosomal recessive spastic paraplegia type 18 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.

Biceps hyperreflexia

Always present (100%)HP:0033205

Joint contracture

Always present (100%)HP:0034392

Ankle flexion contracture

Very frequent (80-99%)HP:0006466

Bilateral wrist contracture

Very frequent (80-99%)HP:0012453

Cognitive delay

Very frequent (80-99%)HP:0001263

Distal limb muscle weakness due to peripheral neuropathy

Very frequent (80-99%)HP:0002460

Fixed flexion at the elbow joint

Very frequent (80-99%)HP:0002987

Flexion contractures

Very frequent (80-99%)HP:0001371

Inability to straighten knee

Very frequent (80-99%)HP:0006380

Inability to walk

Very frequent (80-99%)HP:0002540

Increased reflexes

Very frequent (80-99%)HP:0001347

Mental-retardation

Very frequent (80-99%)HP:0001249

Upper limb hyperreflexia

Very frequent (80-99%)HP:0007350

Extensor plantar responses

Frequent (30-79%)HP:0003487

Hypoplasia of corpus callosum

Frequent (30-79%)HP:0002079

Involuntary muscle stiffness, contraction, or spasm

Frequent (30-79%)HP:0001257

Large mouth

Frequent (30-79%)HP:0000154

Lingual hyperplasia

Frequent (30-79%)HP:0000158

Nonverbal

Frequent (30-79%)HP:0001344

Abnormal lumbar spine morphology

Occasional (5-29%)HP:0100712

Ankle clonus

Occasional (5-29%)HP:0011448

Contractures of the toes

Occasional (5-29%)HP:0005830

Decreased height of philtrum

Occasional (5-29%)HP:0000322

Deglutition disorder

Occasional (5-29%)HP:0002015

Distal sensory loss, especially vibratory sense

Occasional (5-29%)HP:0002166

Dysplastic ears

Occasional (5-29%)HP:0000377

Epilepsy

Occasional (5-29%)HP:0001250

Flexion contractures of hips

Occasional (5-29%)HP:0003273

High arched palate

Occasional (5-29%)HP:0000218

Horizontal nystagmus

Occasional (5-29%)HP:0000666

Related Conditions

Complicated hereditary spastic paraplegia(parent)

Autosomal recessive hereditary spastic paraplegia(parent)

Quick Facts

SNOMED CT: 732932004
UMLS CUI: C2749936
Fully Specified Name: Autosomal recessive spastic paraplegia type 18 (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.