Overview
Sarcosine 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.
High plasma sarcosine levels
Always present (100%)HP:0010896
High urine sarcosine levels
Very frequent (80-99%)HP:0010897
Abnormality of movement
Occasional (5-29%)HP:0100022
Ataxia
Occasional (5-29%)HP:0001251
Cardiomyopathy, hypertrophic
Occasional (5-29%)HP:0001639
Congenital blindness
Occasional (5-29%)HP:0007875
Dyslexia
Occasional (5-29%)HP:0010522
Emotional lability
Occasional (5-29%)HP:0000712
Generalized tonic-clonic seizure (without specification of onset)
Occasional (5-29%)HP:0002069
Hypotonia, early
Occasional (5-29%)HP:0008947
Infantile sensorineural hearing impairment
Occasional (5-29%)HP:0008610
Loss of speech
Occasional (5-29%)HP:0002371
Mental retardation, mild
Occasional (5-29%)HP:0001256
No development of motor milestones
Occasional (5-29%)HP:0001270
Optic atrophy
Occasional (5-29%)HP:0000648
Peroneal muscle weakness
Occasional (5-29%)HP:0011727
Problems speaking
Occasional (5-29%)HP:0002465
Psychomotor development deficiency
Occasional (5-29%)HP:0001263
Pulmonary stenosis
Occasional (5-29%)HP:0001642
Quadriparesis
Occasional (5-29%)HP:0002273
Squint
Occasional (5-29%)HP:0000486
Trouble sleeping
Occasional (5-29%)HP:0002360
Quick Facts
- SNOMED CT
- 64852002
- UMLS CUI
- C0268563
- Fully Specified Name
- Sarcosine dehydrogenase deficiency (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 22
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.