Autosomal recessive spastic paraplegia type 44

disorder

SNOMED 723821002CUI C2750784

Overview

Autosomal recessive spastic paraplegia type 44 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.

Extensor plantar responses

Always present (100%)HP:0003487

Hypoplasia of corpus callosum

Always present (100%)HP:0002079

Increased reflexes

Always present (100%)HP:0001347

Spastic paraplegia

Always present (100%)HP:0001258

Spastic walk

Always present (100%)HP:0002064

Upper extremity spasticity

Always present (100%)HP:0006986

Abnormal auditory evoked potentials

Very frequent (80-99%)HP:0006958

Abnormal motor evoked potentials

Very frequent (80-99%)HP:0012896

Abnormal visual evoked responses

Very frequent (80-99%)HP:0000649

Abnormality of somatosensory evoked potentials

Very frequent (80-99%)HP:0007377

Ataxia

Very frequent (80-99%)HP:0001251

Cavus foot

Very frequent (80-99%)HP:0001761

CNS hypomyelination

Very frequent (80-99%)HP:0003429

Difficulty articulating speech

Very frequent (80-99%)HP:0001260

Spasticity of lower limb

Very frequent (80-99%)HP:0002061

Squint

Very frequent (80-99%)HP:0000486

Dyschezia

Frequent (30-79%)HP:0002019

Gait disturbance

Frequent (30-79%)HP:0001288

Intellectual impairment

Frequent (30-79%)HP:0100543

Loss of distal sensation

Frequent (30-79%)HP:0002936

Scoliosis

Frequent (30-79%)HP:0002650

Seizures

Frequent (30-79%)HP:0001250

Sensorineural deafness

Frequent (30-79%)HP:0000407

Sensory impairment

Frequent (30-79%)HP:0003474

Slow visual tracking

Frequent (30-79%)HP:0000514

Sphincter disturbances

Frequent (30-79%)HP:0002839

Urinary incontinence

Frequent (30-79%)HP:0000020

Delayed gross motor development

Occasional (5-29%)HP:0002194

Abnormal finger-nose-finger test

HP:0001310

Cerebellar tremor

HP:0002080

Related Conditions

Complicated hereditary spastic paraplegia(parent)

Autosomal recessive hereditary spastic paraplegia(parent)

Quick Facts

SNOMED CT: 723821002
UMLS CUI: C2750784
Fully Specified Name: Autosomal recessive spastic paraplegia type 44 (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.