Autosomal recessive spastic paraplegia type 54

disorder

SNOMED 723824005CUI C3539495

Overview

Autosomal recessive spastic paraplegia type 54 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.

Increased reflexes

Always present (100%)HP:0001347

Mental and motor retardation

Very frequent (80-99%)HP:0001263

Spastic paraplegia

Very frequent (80-99%)HP:0001258

Deglutition disorder

Frequent (30-79%)HP:0002015

Difficulty articulating speech

Frequent (30-79%)HP:0001260

Distal muscle weakness in lower limbs

Frequent (30-79%)HP:0009053

Dyschezia

Frequent (30-79%)HP:0002019

Fluid-filled cyst in spinal cord

Frequent (30-79%)HP:0003396

Foot joint contracture

Frequent (30-79%)HP:0008366

Gait disturbance

Frequent (30-79%)HP:0001288

Hypoplasia of corpus callosum

Frequent (30-79%)HP:0002079

Hypoplastic optic discs

Frequent (30-79%)HP:0007766

Hypoplastic optic nerves

Frequent (30-79%)HP:0000609

Periventricular white matter hyperintensities

Frequent (30-79%)HP:0030891

Spastic walk

Frequent (30-79%)HP:0002064

Squint

Frequent (30-79%)HP:0000486

Upper extremity spasticity

Frequent (30-79%)HP:0006986

Urinary incontinence

Frequent (30-79%)HP:0000020

Anal incontinence

Occasional (5-29%)HP:0002607

Cavus foot

Occasional (5-29%)HP:0001761

Decreased facial expressions

Occasional (5-29%)HP:0000338

Distal upper limb muscle weakness

Occasional (5-29%)HP:0008959

High arched palate

Occasional (5-29%)HP:0000218

Muscle rigidity

Occasional (5-29%)HP:0002063

Periventricular leukomalacia

Occasional (5-29%)HP:0006970

Walking on tiptoes

Occasional (5-29%)HP:0030051

Decreased body height

HP:0004322

Extensor plantar responses

HP:0003487

Increased intercanthal distance

HP:0000506

Lower limb muscle weakness

HP:0007340

Related Conditions

Complicated hereditary spastic paraplegia(parent)

Autosomal recessive hereditary spastic paraplegia(parent)

Quick Facts

SNOMED CT: 723824005
UMLS CUI: C3539495
Fully Specified Name: Autosomal recessive spastic paraplegia type 54 (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.