Dihydropteridine reductase deficiency

disorder

SNOMED 58256000CUI C0268465

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.

Diminished tissue dihydropteridine reductase activity

Always present (100%)HP:6000966

Decreased size of cranium

Very frequent (80-99%)HP:0000252

Deglutition disorder

Very frequent (80-99%)HP:0002015

Mental and motor retardation

Very frequent (80-99%)HP:0001263

Mental-retardation

Very frequent (80-99%)HP:0001249

Abnormal deposits of calcium in the brain

HP:0002514

Central hypotonia

HP:0001252

Choreoathetoid movements

HP:0001266

Dystonic movements

HP:0001332

Epilepsy

HP:0001250

Hyperphenylalaninemia

HP:0004923

Hypertonia

HP:0001276

Intermittent fever

HP:0001954

Irritability

HP:0000737

Jerking

HP:0001336

Oversalivation

HP:0003781

Tremor

HP:0001337

Worsening neurological symptoms

HP:0002344

Related Conditions

Enzymopathy(parent)

Inborn error of metabolism(parent)

Tetrahydrobiopterin synthesis defect(parent)

Quick Facts

SNOMED CT: 58256000
UMLS CUI: C0268465
Fully Specified Name: Dihydropteridine reductase deficiency (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 18

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.