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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.

Cerebral atrophy
Always present (100%)HP:0002059
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
Thinning of the corpus callosum
Always present (100%)HP:0033725
Corticospinal signs
Very frequent (80-99%)HP:0007256
Gait disturbance
Very frequent (80-99%)HP:0001288
No development of motor milestones
Very frequent (80-99%)HP:0001270
Progressive dementia
Very frequent (80-99%)HP:0000726
Abnormal peripheral nerve transmission
Frequent (30-79%)HP:0003134
Agraphia
Frequent (30-79%)HP:0010526
Apraxia
Frequent (30-79%)HP:0002186
Archaic reflex
Frequent (30-79%)HP:0002476
Deglutition disorder
Frequent (30-79%)HP:0002015
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
Mental and motor retardation
Frequent (30-79%)HP:0001263
Personality disorder
Frequent (30-79%)HP:0012075
Athetoid movements
Occasional (5-29%)HP:0002305
Cerebellar signs
Occasional (5-29%)HP:0001317
Extrapyramidal dysfunction
Occasional (5-29%)HP:0002071
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.

Autosomal recessive spastic paraplegia type 21 — Symptoms, Testing & Specialists | Ltrl