Overview
Methylcobalamin deficiency type cblE 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.
Megaloblastic anemia
Always present (100%)HP:0001889
Normocytic anemia
Always present (100%)HP:0001897
Homocystinemia
Very frequent (80-99%)HP:0002160
Megaloblastic bone marrow
Very frequent (80-99%)HP:0001980
Psychomotor development deficiency
Very frequent (80-99%)HP:0001263
Abnormal eye
Frequent (30-79%)HP:0000478
Abnormal vocalization
Frequent (30-79%)HP:0002167
Abnormality of movement
Frequent (30-79%)HP:0100022
Brain wasting
Frequent (30-79%)HP:0012444
Cerebral cortex atrophy
Frequent (30-79%)HP:0002120
Cortical white matter abnormalities seen on MRI
Frequent (30-79%)HP:0002500
Decreased plasma methionine
Frequent (30-79%)HP:0003658
Decreased size of cranium
Frequent (30-79%)HP:0000252
Epilepsy
Frequent (30-79%)HP:0001250
Feeding difficulties
Frequent (30-79%)HP:0011968
Global developmental delay, severe
Frequent (30-79%)HP:0011344
Growth delay as children
Frequent (30-79%)HP:0008897
Hyperkinetic movements
Frequent (30-79%)HP:0002487
Hypertonia
Frequent (30-79%)HP:0001276
Increased MCV
Frequent (30-79%)HP:0005518
Intrauterine growth retardation, IUGR
Frequent (30-79%)HP:0001511
Loss of consciousness
Frequent (30-79%)HP:0007185
Macrocytic anemia
Frequent (30-79%)HP:0001972
Nonprogressive mental retardation
Frequent (30-79%)HP:0001249
Peripheral hypotonia
Frequent (30-79%)HP:0001252
Sleepy
Frequent (30-79%)HP:0002329
Undergrowth
Frequent (30-79%)HP:0001508
Vomiting
Frequent (30-79%)HP:0002013
Abnormality of the cardiovascular system
Occasional (5-29%)HP:0001626
Abnormality of the liver
Occasional (5-29%)HP:0001392
Related Conditions
Quick Facts
- SNOMED CT
- 1296847007
- UMLS CUI
- C1856057
- Fully Specified Name
- Methylcobalamin deficiency type cblE (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.