Autosomal recessive spastic paraplegia type 70

disorder

SNOMED 770724001CUI C4749431

Overview

Autosomal recessive spastic paraplegia type 70 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

Decreased projection of lower jaw

Always present (100%)HP:0000347

Delayed ability to walk

Always present (100%)HP:0031936

Delayed language development

Always present (100%)HP:0000750

Delayed motor milestones

Always present (100%)HP:0001270

Feeding difficulties

Always present (100%)HP:0011968

High arched palate

Always present (100%)HP:0000218

Increased distance between eyes

Always present (100%)HP:0000316

Increased reflexes

Always present (100%)HP:0001347

Involuntary muscle stiffness, contraction, or spasm

Always present (100%)HP:0001257

Low-set ears

Always present (100%)HP:0000369

Muscle wasting

Always present (100%)HP:0003202

Poor growth

Always present (100%)HP:0001510

Abnormal myelination

Frequent (30-79%)HP:0012447

Abnormality of movement

Frequent (30-79%)HP:0100022

Achilles tendon contracture

Frequent (30-79%)HP:0001771

Decreased size of cranium

Frequent (30-79%)HP:0000252

Interstitial pulmonary disease

Frequent (30-79%)HP:0006530

Mental retardation, mild

Frequent (30-79%)HP:0001256

Peripheral neuropathy

Frequent (30-79%)HP:0009830

Progressive spastic paraplegia

Frequent (30-79%)HP:0007020

Psychomotor development deficiency

Frequent (30-79%)HP:0001263

Sensorineural deafness

Frequent (30-79%)HP:0000407

Spasticity of lower limb

Frequent (30-79%)HP:0002061

tremors in hands

Frequent (30-79%)HP:0002378

Scoliosis

Occasional (5-29%)HP:0002650

Nephrosis

Very rare (1-4%)HP:0000100

Difficulty articulating speech

Excluded (<1%)HP:0001260

Muscle fasciculation

Excluded (<1%)HP:0002380

Sensory impairment

Excluded (<1%)HP:0003474

Related Conditions

Complicated hereditary spastic paraplegia(parent)

Autosomal recessive hereditary spastic paraplegia(parent)

Quick Facts

SNOMED CT: 770724001
UMLS CUI: C4749431
Fully Specified Name: Autosomal recessive spastic paraplegia type 70 (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.