Autosomal recessive spastic paraplegia type 9B

disorder

SNOMED 1187467000CUI C5568980

Overview

Autosomal recessive spastic paraplegia type 9B 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.

Gait disturbance

Always present (100%)HP:0001288

Mental deficiency

Always present (100%)HP:0001249

Spastic paraplegia

Always present (100%)HP:0001258

Extensor plantar responses

Very frequent (80-99%)HP:0003487

Increased reflexes

Very frequent (80-99%)HP:0001347

Involuntary muscle stiffness, contraction, or spasm

Very frequent (80-99%)HP:0001257

Lower limb hyperreflexia

Very frequent (80-99%)HP:0002395

Upper limb hyperreflexia

Very frequent (80-99%)HP:0007350

Decreased distal vibration sense

Frequent (30-79%)HP:0006886

Impaired continence

Frequent (30-79%)HP:0031064

Muscle weakness

Frequent (30-79%)HP:0001324

No development of motor milestones

Frequent (30-79%)HP:0001270

Postural tremor

Frequent (30-79%)HP:0002174

Pseudobulbar palsy

Frequent (30-79%)HP:0007024

Quadriplegia

Frequent (30-79%)HP:0002445

Spastic walk

Frequent (30-79%)HP:0002064

Urinary incontinence

Frequent (30-79%)HP:0000020

Abnormality of the periventricular white matter

Occasional (5-29%)HP:0002518

Absent Achilles reflex

Occasional (5-29%)HP:0003438

Archaic reflex

Occasional (5-29%)HP:0002476

Atrophy of the corpus callosum

Occasional (5-29%)HP:0007371

Cerebral cortex atrophy

Occasional (5-29%)HP:0002120

Decreased size of cranium

Occasional (5-29%)HP:0000252

Decreased vibration sense in feet

Occasional (5-29%)HP:0006938

Dysmorphic facies

Occasional (5-29%)HP:0001999

Frequent urination

Occasional (5-29%)HP:0100515

Inability to heel walk

Occasional (5-29%)HP:0009027

Kyphoscoliosis

Occasional (5-29%)HP:0002751

Lens opacities

Occasional (5-29%)HP:0000518

Loss of speech

Occasional (5-29%)HP:0002371

Related Conditions

Autosomal recessive hereditary spastic paraplegia(parent)

Complicated hereditary spastic paraplegia(parent)

Quick Facts

SNOMED CT: 1187467000
UMLS CUI: C5568980
Fully Specified Name: Autosomal recessive spastic paraplegia type 9B (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.