Fatty acid hydroxylase associated neurodegeneration

disorder

SNOMED 702419001CUI C3668943

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.

Gait disturbance

Always present (100%)HP:0001288

Spasticity of lower limb

Always present (100%)HP:0002061

Falls

Very frequent (80-99%)HP:0002527

Gait ataxia, progressive

Very frequent (80-99%)HP:0007240

Intellectual deterioration

Very frequent (80-99%)HP:0001268

Progressive spastic paraplegia

Very frequent (80-99%)HP:0007020

Colour vision test abnormality

Frequent (30-79%)HP:0030584

Degeneration of the spinal cord

Frequent (30-79%)HP:0006827

Dystonic movements

Frequent (30-79%)HP:0001332

Generalised dystonia

Frequent (30-79%)HP:0007325

Generalized tonic-clonic seizure (without specification of onset)

Frequent (30-79%)HP:0002069

Horizontal nystagmus

Frequent (30-79%)HP:0000666

Loss of ambulation

Frequent (30-79%)HP:0002505

Loss of articulate speech

Frequent (30-79%)HP:0002425

Motor aphasia

Frequent (30-79%)HP:0002427

Partial loss of field of vision

Frequent (30-79%)HP:0001123

Progressive extrapyramidal movement disorder

Frequent (30-79%)HP:0007153

Progressive spastic paraparesis

Frequent (30-79%)HP:0007199

Progressive spastic quadriparesis

Frequent (30-79%)HP:0002478

Pyramidal tract dysfunction

Frequent (30-79%)HP:0002493

Subacute deterioration of visual acuity

Frequent (30-79%)HP:0007924

Supranuclear gaze paralysis

Frequent (30-79%)HP:0000605

Thinning of the corpus callosum

Frequent (30-79%)HP:0033725

Vermian atrophy

Frequent (30-79%)HP:0006855

Ankle clonus

Occasional (5-29%)HP:0011448

Epilepsy

Occasional (5-29%)HP:0001250

External ophthalmoplegia

Occasional (5-29%)HP:0000544

Focal seizures

Occasional (5-29%)HP:0007359

Urinary incontinence

Occasional (5-29%)HP:0000020

Bipolar depression

Very rare (1-4%)HP:0007302

Related Conditions

System disorder of the nervous system(parent)

Hereditary disorder of nervous system(parent)

Recessive hereditary disorder (autosomal)(parent)

Quick Facts

SNOMED CT: 702419001
UMLS CUI: C3668943
Fully Specified Name: Fatty acid hydroxylase associated neurodegeneration (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.