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Autosomal recessive spastic paraplegia type 21

disorder
SNOMED 764734003CUI C1855346

Overview

Autosomal recessive spastic paraplegia type 21 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.

Difficulty articulating speech
Always present (100%)HP:0001260
Extensor plantar responses
Always present (100%)HP:0003487
Infratentorial atrophy
Always present (100%)HP:0001272
Periventricular white matter hyperintensities
Always present (100%)HP:0030891
Spasticity and rigidity of muscles
Always present (100%)HP:0001276
Supratentorial atrophy
Always present (100%)HP:0002059
Thinning of the corpus callosum
Always present (100%)HP:0033725
Corticospinal signs
Very frequent (80-99%)HP:0007256
Delayed motor milestones
Very frequent (80-99%)HP:0001270
Gait disturbance
Very frequent (80-99%)HP:0001288
Progressive dementia
Very frequent (80-99%)HP:0000726
Abnormal peripheral nerve transmission
Frequent (30-79%)HP:0003134
Apraxia
Frequent (30-79%)HP:0002186
Archaic reflex
Frequent (30-79%)HP:0002476
Deglutition disorder
Frequent (30-79%)HP:0002015
Dysgraphia
Frequent (30-79%)HP:0010526
Frontotemporal cerebral atrophy
Frequent (30-79%)HP:0006892
Hypoplasia of corpus callosum
Frequent (30-79%)HP:0002079
Increased reflexes
Frequent (30-79%)HP:0001347
Intellectual deterioration
Frequent (30-79%)HP:0001268
Involuntary muscle stiffness, contraction, or spasm
Frequent (30-79%)HP:0001257
Jaw hyperreflexia
Frequent (30-79%)HP:0033683
Lower limb muscle weakness
Frequent (30-79%)HP:0007340
Personality disorder
Frequent (30-79%)HP:0012075
Psychomotor development deficiency
Frequent (30-79%)HP:0001263
Athetoid movements
Occasional (5-29%)HP:0002305
Cerebellar abnormality
Occasional (5-29%)HP:0001317
Extrapyramidal syndrome
Occasional (5-29%)HP:0002071
Peripheral neuropathy
Occasional (5-29%)HP:0009830
Akinetic mutism
HP:0012672

Quick Facts

SNOMED CT
764734003
UMLS CUI
C1855346
Fully Specified Name
Autosomal recessive spastic paraplegia type 21 (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.