Molybdenum cofactor deficiency complementation group B

disorder

SNOMED 1003368009CUI C1854989

Overview

Molybdenum cofactor deficiency complementation group B 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.

Arc de cercle

Always present (100%)HP:0002179

Central hypotonia

Always present (100%)HP:0001252

Decreased size of cranium

Always present (100%)HP:0000252

Decreased urinary urate

Always present (100%)HP:0011935

Diffuse cerebral atrophy

Always present (100%)HP:0002506

Feeding difficulties

Always present (100%)HP:0011968

Generalized tonic-clonic seizure (without specification of onset)

Always present (100%)HP:0002069

Increased urinary sulfite level

Always present (100%)HP:0011942

Involuntary, rapid, rhythmic eye movements

Always present (100%)HP:0000639

Irritable mood

Always present (100%)HP:0000737

Low blood uric acid levels

Always present (100%)HP:0003537

Psychomotor development deficiency

Always present (100%)HP:0001263

Spastic quadriplegia

Always present (100%)HP:0002510

Thinning of the corpus callosum

Always present (100%)HP:0033725

Abnormality of lens position

HP:0001083

Axonal loss

HP:0003447

Cerebral atrophy

HP:0002059

Completely dislocated lens

HP:0012019

Dilated cerebral ventricle

HP:0002119

Epilepsy

HP:0001250

Excess astrocytes in brain

HP:0002171

Frontal protuberance

HP:0002007

Growth deficiency

HP:0001510

Hypoplasia of corpus callosum

HP:0002079

Increased distance between eyes

HP:0000316

Increased length of philtrum

HP:0000343

Increased urinary hypoxanthine level

HP:0011814

Increased urinary taurine

HP:0003166

Large head

HP:0000256

Molybdenum cofactor deficiency

HP:0003570

Related Conditions

Combined molybdoflavoprotein enzyme deficiency(parent)

Quick Facts

SNOMED CT: 1003368009
UMLS CUI: C1854989
Fully Specified Name: Molybdenum cofactor deficiency complementation group B (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.