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X-linked spastic paraplegia type 16

disorder
SNOMED 783697000CUI C1846046

Overview

X-linked spastic paraplegia type 16 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.

Quadriplegia
Always present (100%)HP:0002445
Abnormal hallux morphology
Frequent (30-79%)HP:0001844
Expressive aphasia
Frequent (30-79%)HP:0002427
Functional abnormality of the gastrointestinal tract
Frequent (30-79%)HP:0012719
Involuntary, rapid, rhythmic eye movements
Frequent (30-79%)HP:0000639
Mental retardation, mild
Frequent (30-79%)HP:0001256
No development of motor milestones
Frequent (30-79%)HP:0001270
Poor bladder function
Frequent (30-79%)HP:0000009
Visual loss
Frequent (30-79%)HP:0000572
Distal phalangeal hypoplasia
HP:0009882
Emotional lability
HP:0000712
Extensor plantar responses
HP:0003487
Hypotonic facies
HP:0000297
Impaired vision
HP:0000505
Increased reflexes
HP:0001347
Intolerance to frustration
HP:0000744
Lower limb amyotrophy
HP:0007210
Lower limb muscle weakness
HP:0007340
Mental-retardation
HP:0001249
Restlessness
HP:0000711
Retrognathia of upper jaw
HP:0000327
Shuffled walk
HP:0002362
Spastic paraplegia
HP:0001258
Spasticity of lower limb
HP:0002061
Sphincter disturbances
HP:0002839
Squint
HP:0000486
Urgency frequency syndrome
HP:0000012
Urinary incontinence
HP:0000020

Quick Facts

SNOMED CT
783697000
UMLS CUI
C1846046
Fully Specified Name
X-linked spastic paraplegia type 16 (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
28
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.