Proline dehydrogenase deficiency

disorder

SNOMED 61071003CUI C0268529

Overview

Proline dehydrogenase deficiency is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Low intelligence

Always present (100%)HP:0001249

Speech difficulties

Always present (100%)HP:0000750

Ataxia

Frequent (30-79%)HP:0001251

Hyperglycinuria

Frequent (30-79%)HP:0003108

Hyperprolinemia

Frequent (30-79%)HP:0008358

Kidney disease

Frequent (30-79%)HP:0000112

Mental and motor retardation

Frequent (30-79%)HP:0001263

Proline high in urine

Frequent (30-79%)HP:0003137

Proteinuria

Frequent (30-79%)HP:0000093

ASD

Occasional (5-29%)HP:0000729

Schizophrenia

Occasional (5-29%)HP:0100753

Seizures

Occasional (5-29%)HP:0001250

Aggression

HP:0000718

Electroencephalogram abnormal

HP:0002353

Elevated urinary hydroxyproline

HP:0003080

Generalised decreased muscle tone

HP:0001290

Hyperactive behaviour

HP:0000752

Peripheral hypotonia

HP:0001252

Prolonged seizure

HP:0002133

Stimming

HP:0000733

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Enzymopathy(parent)

Hyperprolinemia(parent)

Inborn error of metabolism(parent)

Quick Facts

SNOMED CT: 61071003
UMLS CUI: C0268529
Fully Specified Name: Proline dehydrogenase deficiency (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 20

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.