Molybdenum cofactor deficiency complementation group C

disorder

SNOMED 1003387003CUI C1854990

Overview

Molybdenum cofactor deficiency complementation group C 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.

Appendicular hypertonia

Always present (100%)HP:0002509

Delay in head control

Always present (100%)HP:0002421

Feeding difficulties

Always present (100%)HP:0011968

Generalised decreased muscle tone

Always present (100%)HP:0001290

Generalised-onset seizure

Always present (100%)HP:0002197

Generalized tonic-clonic seizure (without specification of onset)

Always present (100%)HP:0002069

Hypertonia

Always present (100%)HP:0001276

Hypocystinemia

Always present (100%)HP:0500152

Increased circulating taurine levels in the blood

Always present (100%)HP:0500181

Increased reflexes

Always present (100%)HP:0001347

Increased urinary taurine

Always present (100%)HP:0003166

Low blood uric acid levels

Always present (100%)HP:0003537

Molybdenum cofactor deficiency

Always present (100%)HP:0003570

More grooves in brain

Always present (100%)HP:0002126

Myoclonic epilepsy, progressive

Always present (100%)HP:0002123

Pontine hypoplasia

Always present (100%)HP:0012110

Poor eye contact

Always present (100%)HP:0000817

Severe psychomotor retardation

Always present (100%)HP:0011344

Small cerebellum

Always present (100%)HP:0001321

Sulfite oxidase deficiency

Always present (100%)HP:0003643

Truncal hypotonia

Always present (100%)HP:0008936

Related Conditions

Combined molybdoflavoprotein enzyme deficiency(parent)

Quick Facts

SNOMED CT: 1003387003
UMLS CUI: C1854990
Fully Specified Name: Molybdenum cofactor deficiency complementation group C (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.