Autosomal recessive spastic paraplegia type 45

disorder

SNOMED 765753004CUI C3888209

Overview

Autosomal recessive spastic paraplegia type 45 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.

Ankle clonus

Always present (100%)HP:0011448

Difficulty articulating speech

Always present (100%)HP:0001260

Fetal foot inversion

Always present (100%)HP:0001762

Speech delay

Always present (100%)HP:0000750

Thinning of the corpus callosum

Always present (100%)HP:0033725

Truncal hypotonia

Always present (100%)HP:0008936

Walking on tiptoes

Always present (100%)HP:0030051

Ankle flexion contracture

Very frequent (80-99%)HP:0006466

Contractures of the toes

Very frequent (80-99%)HP:0005830

Extensor plantar responses

Very frequent (80-99%)HP:0003487

Inability to straighten knee

Very frequent (80-99%)HP:0006380

Mental-retardation

Very frequent (80-99%)HP:0001249

Muscle atrophy, neurogenic

Very frequent (80-99%)HP:0003202

Spastic paraplegia

Very frequent (80-99%)HP:0001258

Spastic walk

Very frequent (80-99%)HP:0002064

Spasticity of lower limb

Very frequent (80-99%)HP:0002061

Degeneration of cerebrum

Frequent (30-79%)HP:0002059

Hypoplasia of corpus callosum

Frequent (30-79%)HP:0002079

Increased reflexes

Frequent (30-79%)HP:0001347

Mental and motor retardation

Frequent (30-79%)HP:0001263

No development of motor milestones

Frequent (30-79%)HP:0001270

Nystagmus, pendular

Frequent (30-79%)HP:0012043

Dysplasia of corpus callosum

Occasional (5-29%)HP:0006989

Near sighted

Occasional (5-29%)HP:0000545

Optic atrophy

Occasional (5-29%)HP:0000648

Squint

Occasional (5-29%)HP:0000486

Flexion contractures

HP:0001371

Involuntary, rapid, rhythmic eye movements

HP:0000639

Related Conditions

Autosomal recessive hereditary spastic paraplegia(parent)

Quick Facts

SNOMED CT: 765753004
UMLS CUI: C3888209
Fully Specified Name: Autosomal recessive spastic paraplegia type 45 (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.