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Spinocerebellar ataxia type 27

disorder
SNOMED 719252002CUI C1836383

Overview

Spinocerebellar ataxia type 27 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
Very frequent (80-99%)HP:0001260
Gaze-evoked nystagmus
Very frequent (80-99%)HP:0000640
Tremor
Very frequent (80-99%)HP:0001337
Appendicular ataxia
Frequent (30-79%)HP:0002070
Gait disturbance
Frequent (30-79%)HP:0001288
Impaired vibratory sensation
Frequent (30-79%)HP:0002495
Inability to coordinate movements when walking
Frequent (30-79%)HP:0002066
Instability or lack of coordination of central trunk muscles
Frequent (30-79%)HP:0002078
Memory impairment
Frequent (30-79%)HP:0002354
Orofacial dyskinesias
Frequent (30-79%)HP:0002310
Pes cavus
Frequent (30-79%)HP:0001761
physical aggression
Frequent (30-79%)HP:0000718
Sensory axonal neuropathy
Frequent (30-79%)HP:0003390
Atrophic cerebellum
Occasional (5-29%)HP:0001272
Depressive episode
Occasional (5-29%)HP:0000716
Mental retardation, mild
Occasional (5-29%)HP:0001256
Red green color blindness
Occasional (5-29%)HP:0000642
Squint
Occasional (5-29%)HP:0000486
tremors in hands
Occasional (5-29%)HP:0002378
Agraphia
Very rare (1-4%)HP:0010526
Akinesia
Very rare (1-4%)HP:0002304
Abnormal vestibulo-ocular reflex
HP:0007670
Absent smooth pursuit
HP:0007179
Impaired smooth pursuit
HP:0007772
Postural tremor
HP:0002174
Upbeat nystagmus
HP:0011477

Quick Facts

SNOMED CT
719252002
UMLS CUI
C1836383
Fully Specified Name
Spinocerebellar ataxia type 27 (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
26
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.