Spastic ataxia with congenital miosis

disorder

SNOMED 763669001CUI C1862441

Overview

Spastic ataxia with congenital miosis 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.

Ataxia

Very frequent (80-99%)HP:0001251

Congenital miosis

Very frequent (80-99%)HP:0007728

Difficulty articulating speech

Very frequent (80-99%)HP:0001260

Increased reflexes

Frequent (30-79%)HP:0001347

Involuntary, rapid, rhythmic eye movements

Frequent (30-79%)HP:0000639

Paralysis or weakness of one side of body

Frequent (30-79%)HP:0004374

Spastic ataxia

Frequent (30-79%)HP:0002497

Epilepsy

Occasional (5-29%)HP:0001250

Optic atrophy

Occasional (5-29%)HP:0000648

Disconjugate eye movements

HP:0000549

Dysdiadochokinesis

HP:0002075

Extensor plantar responses

HP:0003487

Related Conditions

Autosomal dominant hereditary disorder(parent)

Encephalomyeloneuropathy(parent)

Hereditary disorder of the visual system(parent)

Congenital miosis(parent)

Hereditary ataxia(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 763669001
UMLS CUI: C1862441
Fully Specified Name: Spastic ataxia with congenital miosis (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 12

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.