Lethal ataxia-deafness-optic atrophy

disorder

SNOMED 702441001CUI C0796028

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Abnormal erythrocyte enzyme concentration or activity

Very frequent (80-99%)HP:0030272

Abnormality of somatosensory evoked potentials

Very frequent (80-99%)HP:0007377

Bilateral congenital sensorineural deafness

Very frequent (80-99%)HP:0008527

Decreased motor nerve conduction velocity

Very frequent (80-99%)HP:0003431

EMG: chronic denervation signs

Very frequent (80-99%)HP:0003444

Impaired vision

Very frequent (80-99%)HP:0000505

Legal blindness

Very frequent (80-99%)HP:0000618

Muscle weakness

Very frequent (80-99%)HP:0001324

Mutism

Very frequent (80-99%)HP:0002300

Optic atrophy

Very frequent (80-99%)HP:0000648

Recurrent URI

Very frequent (80-99%)HP:0002788

Severe demyelination of the white matter

Very frequent (80-99%)HP:0007258

Susceptibility to infection

Very frequent (80-99%)HP:0002719

Unusual course of infection

Very frequent (80-99%)HP:0032169

Absent deep tendon reflexes

Frequent (30-79%)HP:0001284

Appendicular hypotonia

Frequent (30-79%)HP:0012389

Ataxia

Frequent (30-79%)HP:0001251

EEG with focal epileptiform discharges

Frequent (30-79%)HP:0011185

Flaccid neck

Frequent (30-79%)HP:0000467

Involuntary, rapid, rhythmic eye movements

Frequent (30-79%)HP:0000639

Low blood uric acid levels

Frequent (30-79%)HP:0003537

Mental retardation, mild

Frequent (30-79%)HP:0001256

Moderate mental retardation

Frequent (30-79%)HP:0002342

No development of motor milestones

Frequent (30-79%)HP:0001270

Peripheral neuropathy

Frequent (30-79%)HP:0009830

Profound sensorineural hearing impairment

Frequent (30-79%)HP:0011476

Quadriplegia

Frequent (30-79%)HP:0002445

Respiratory distress requiring endotracheal intubation

Frequent (30-79%)HP:0004887

Spinal cord posterior columns myelin loss

Frequent (30-79%)HP:0008311

Truncal hypotonia

Frequent (30-79%)HP:0008936

Related Conditions

Hereditary ataxia(parent)

Hereditary optic atrophy(parent)

Developmental hereditary disorder(parent)

X-linked recessive hereditary disease(parent)

Genetic intellectual disability(parent)

Hereditary hearing loss(parent)

Quick Facts

SNOMED CT: 702441001
UMLS CUI: C0796028
Fully Specified Name: Fatal X-linked ataxia with deafness and loss of vision (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.