Encephalopathy due to sulfite oxidase deficiency

disorder

SNOMED 715980003CUI C4275019

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 respiratory patterns

Very frequent (80-99%)HP:0002793

Abnormal urinary amino-acid findings

Very frequent (80-99%)HP:0003355

Abnormality of lens position

Very frequent (80-99%)HP:0001083

Abnormality of movement

Very frequent (80-99%)HP:0100022

Ataxia

Very frequent (80-99%)HP:0001251

Big cheeks

Very frequent (80-99%)HP:0000293

Enophthalmos

Very frequent (80-99%)HP:0000490

Feeding difficulties in infancy

Very frequent (80-99%)HP:0008872

Increased length of philtrum

Very frequent (80-99%)HP:0000343

Involuntary muscle stiffness, contraction, or spasm

Very frequent (80-99%)HP:0001257

Mental retardation, severe

Very frequent (80-99%)HP:0010864

Nausea and vomiting

Very frequent (80-99%)HP:0002017

Near sighted

Very frequent (80-99%)HP:0000545

Paralysis or weakness of one side of body

Very frequent (80-99%)HP:0004374

Prominent lips

Very frequent (80-99%)HP:0012471

Protruding forehead

Very frequent (80-99%)HP:0011220

Psychomotor regression in infants

Very frequent (80-99%)HP:0002376

Seizures

Very frequent (80-99%)HP:0001250

Small nose

Very frequent (80-99%)HP:0003196

Spastic tetraparesis

Very frequent (80-99%)HP:0001285

Decreased size of cranium

Frequent (30-79%)HP:0000252

Related Conditions

Disorder of lens(parent)

Encephalopathy(parent)

Recessive hereditary disorder (autosomal)(parent)

Hereditary disorder of nervous system(parent)

Hereditary disorder of the visual system(parent)

Central nervous system complication(parent)

Luxation of globe(parent)

Quick Facts

SNOMED CT: 715980003
UMLS CUI: C4275019
Fully Specified Name: Encephalopathy due to sulfite oxidase deficiency (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 21

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.