Infantile Refsum's disease

disorder

SNOMED 238062008CUI C0282527

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.

Cognitive delay

Very frequent (80-99%)HP:0001263

Constriction of peripheral visual field

Very frequent (80-99%)HP:0001133

Decreased body height

Very frequent (80-99%)HP:0004322

Elevated circulating phytanic acid concentration

Very frequent (80-99%)HP:0010571

Enlarged liver

Very frequent (80-99%)HP:0002240

Night blindness

Very frequent (80-99%)HP:0000662

Poor vision

Very frequent (80-99%)HP:0000505

Postnatal failure to thrive

Very frequent (80-99%)HP:0001508

Progressive muscle weakness

Very frequent (80-99%)HP:0003323

Rod-cone dystrophy

Very frequent (80-99%)HP:0000510

Very long chain fatty acid accumulation

Very frequent (80-99%)HP:0008167

Ataxia

Frequent (30-79%)HP:0001251

Behavioural/Psychiatric abnormality

Frequent (30-79%)HP:0000708

Deafness

Frequent (30-79%)HP:0000365

Involuntary muscle stiffness, contraction, or spasm

Frequent (30-79%)HP:0001257

Involuntary, rapid, rhythmic eye movements

Frequent (30-79%)HP:0000639

Peripheral hypotonia

Frequent (30-79%)HP:0001252

Sensorineural deafness

Frequent (30-79%)HP:0000407

Abnormal heart rate

Occasional (5-29%)HP:0011675

Anomaly of the epiphyses

Occasional (5-29%)HP:0005930

Disease of the heart muscle

Occasional (5-29%)HP:0001638

Disorder of face

Occasional (5-29%)HP:0000271

Facial muscle weakness of muscles innervated by CN VII

Occasional (5-29%)HP:0010628

Ichthyosiform abnormality of the skin

Occasional (5-29%)HP:0008064

Lens opacities

Occasional (5-29%)HP:0000518

Optic atrophy

Occasional (5-29%)HP:0000648

Seizures

Occasional (5-29%)HP:0001250

Cirrhosis

HP:0001394

Congenital hypotonia

HP:0001319

Flat midface

HP:0011800

Related Conditions

Peroxisome biogenesis disorder spectrum(parent)

Quick Facts

SNOMED CT: 238062008
UMLS CUI: C0282527
Fully Specified Name: Infantile Refsum's disease (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.