Infantile neuroaxonal dystrophy

disorder

SNOMED 52713000CUI C0270724

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.

Degeneration of cerebrum

Always present (100%)HP:0002059

Excess astrocytes in brain

Always present (100%)HP:0002171

Atrophic cerebellum

Very frequent (80-99%)HP:0001272

Decreased nerve conduction velocity

Very frequent (80-99%)HP:0000762

Mental deterioration in childhood

Very frequent (80-99%)HP:0002376

Psychomotor deterioration

Very frequent (80-99%)HP:0002361

Abnormal peripheral nerve transmission

Frequent (30-79%)HP:0003134

Abnormal visual evoked responses

Frequent (30-79%)HP:0000649

Abnormality of the cerebral white matter

Frequent (30-79%)HP:0002500

Ataxia

Frequent (30-79%)HP:0001251

Bulbar signs

Frequent (30-79%)HP:0002483

Cerebellar gliosis

Frequent (30-79%)HP:0012698

Corticospinal signs

Frequent (30-79%)HP:0007256

Diffuse axonal swelling

Frequent (30-79%)HP:0003405

EMG: chronic denervation signs

Frequent (30-79%)HP:0003444

Eye of the tiger anomaly of globus pallidus

Frequent (30-79%)HP:0002454

Increased lactate dehydrogenase level

Frequent (30-79%)HP:0025435

Increased reflexes

Frequent (30-79%)HP:0001347

Intellectual deterioration

Frequent (30-79%)HP:0001268

Iron accumulation in brain

Frequent (30-79%)HP:0012675

Nerve damage causing decreased feeling and movement

Frequent (30-79%)HP:0007141

Neuropathy

Frequent (30-79%)HP:0009830

Optic atrophy

Frequent (30-79%)HP:0000648

Peripheral axonal neuropathy

Frequent (30-79%)HP:0003477

Reduced social responsiveness

Frequent (30-79%)HP:0012760

Spastic tetraparesis

Frequent (30-79%)HP:0001285

Spasticity, progressive

Frequent (30-79%)HP:0002191

Truncal hypotonia

Frequent (30-79%)HP:0008936

Unsteady walk

Frequent (30-79%)HP:0002317

Aspiration pneumonia

Occasional (5-29%)HP:0011951

Related Conditions

Cerebral degeneration in childhood(parent)

Neuroaxonal dystrophy(parent)

Spastic syndrome(parent)

Quick Facts

SNOMED CT: 52713000
UMLS CUI: C0270724
Fully Specified Name: Infantile neuroaxonal dystrophy (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.