Ataxia with deafness and intellectual disability syndrome

disorder

SNOMED 720517001CUI C4304023

Overview

Ataxia with deafness and intellectual disability syndrome 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

Involuntary, rapid, rhythmic eye movements

Very frequent (80-99%)HP:0000639

Mental-retardation

Very frequent (80-99%)HP:0001249

Sensorineural deafness

Very frequent (80-99%)HP:0000407

Squint

Very frequent (80-99%)HP:0000486

Abnormal electromyography finding

Frequent (30-79%)HP:0003457

Abnormal palate morphology

Frequent (30-79%)HP:0000174

Abnormal vocalization

Frequent (30-79%)HP:0002167

Cerebellar hypoplasia/atrophy

Frequent (30-79%)HP:0007360

Cerebral cortex atrophy

Frequent (30-79%)HP:0002120

Cobb angle greater than ten degrees

Frequent (30-79%)HP:0002650

Decreased nerve conduction velocity

Frequent (30-79%)HP:0000762

Dilated cerebral ventricle

Frequent (30-79%)HP:0002119

Muscle atrophy, neurogenic

Frequent (30-79%)HP:0003202

Muscular hypotonia

Frequent (30-79%)HP:0001252

Reduced tendon reflexes

Frequent (30-79%)HP:0001315

Joint ligamentous laxity

Occasional (5-29%)HP:0001382

Related Conditions

Cerebellar ataxia(parent)

X-linked hereditary disease(parent)

Hearing loss associated with syndrome(parent)

Hereditary ataxia(parent)

Developmental hereditary disorder(parent)

Genetic intellectual disability(parent)

Hereditary hearing loss(parent)

Quick Facts

SNOMED CT: 720517001
UMLS CUI: C4304023
Fully Specified Name: Ataxia with deafness and intellectual disability syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 17

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.