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Spinocerebellar ataxia type 7

disorder
SNOMED 715726000CUI C0752125

Overview

Spinocerebellar ataxia type 7 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.

Abnormal finger chase test
Always present (100%)HP:0001310
Ataxia
Always present (100%)HP:0001251
Difficulty articulating speech
Always present (100%)HP:0001260
Increased reflexes
Always present (100%)HP:0001347
Progressive cerebellar ataxia
Always present (100%)HP:0002073
Tremor
Always present (100%)HP:0001337
Cone-rod retinal dystrophy
Very frequent (80-99%)HP:0000548
Deglutition disorder
Very frequent (80-99%)HP:0002015
Abnormal fundus morphology
Frequent (30-79%)HP:0001098
Atrophic cerebellum
Frequent (30-79%)HP:0001272
Chronic heart failure
Frequent (30-79%)HP:0001635
Cognitive delay
Frequent (30-79%)HP:0001263
Decreased visual acuity
Frequent (30-79%)HP:0007663
Degeneration of cerebrum
Frequent (30-79%)HP:0002059
Delayed motor milestones
Frequent (30-79%)HP:0001270
Dysdiadochokinesis
Frequent (30-79%)HP:0002075
Extensor plantar responses
Frequent (30-79%)HP:0003487
Extraocular muscle palsy
Frequent (30-79%)HP:0000597
Eye muscle paralysis
Frequent (30-79%)HP:0000602
Feeding difficulties
Frequent (30-79%)HP:0011968
Hypotonia, in neonatal onset
Frequent (30-79%)HP:0001319
Intellectual deterioration
Frequent (30-79%)HP:0001268
Involuntary, rapid, rhythmic eye movements
Frequent (30-79%)HP:0000639
Muscle weakness
Frequent (30-79%)HP:0001324
Optic atrophy
Frequent (30-79%)HP:0000648
Orofacial dyskinesias
Frequent (30-79%)HP:0002310
Postnatal failure to thrive
Frequent (30-79%)HP:0001508
Sensory impairment
Frequent (30-79%)HP:0003474
Tachyathetosis
Frequent (30-79%)HP:0012452
Visual loss
Frequent (30-79%)HP:0000572

Quick Facts

SNOMED CT
715726000
UMLS CUI
C0752125
Fully Specified Name
Spinocerebellar ataxia type 7 (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.