Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Blue discoloration of the skin
Very frequent (80-99%)HP:0000961
Methemoglobinemia
Very frequent (80-99%)HP:0012119
Brain and/or spinal cord issue
Frequent (30-79%)HP:0000707
Exertional dyspnea
Frequent (30-79%)HP:0002875
Lip discoloration
Frequent (30-79%)HP:0025118
Nail disease
Frequent (30-79%)HP:0001597
Athetoid movements
Occasional (5-29%)HP:0002305
Atrophic cerebellum
Occasional (5-29%)HP:0001272
Cerebral hypomyelination
Occasional (5-29%)HP:0006808
Decreased size of cranium
Occasional (5-29%)HP:0000252
Esotropia
Occasional (5-29%)HP:0000565
Frontal cortex degeneration
Occasional (5-29%)HP:0006913
Generalised brain degeneration
Occasional (5-29%)HP:0002283
Global developmental delay, severe
Occasional (5-29%)HP:0011344
Grey sclerae
Occasional (5-29%)HP:0000592
Involuntary muscle stiffness, contraction, or spasm
Occasional (5-29%)HP:0001257
Limb dystonia
Occasional (5-29%)HP:0002451
Mental retardation, severe
Occasional (5-29%)HP:0010864
Psychomotor development deficiency
Occasional (5-29%)HP:0001263
Spastic quadriplegia
Occasional (5-29%)HP:0002510
Temporal cortical atrophy
Occasional (5-29%)HP:0007112
Delayed myelination
Very rare (1-4%)HP:0012448
Epilepsy
Very rare (1-4%)HP:0001250
Low birth weight
Very rare (1-4%)HP:0001518
Small basal ganglia
Very rare (1-4%)HP:0012697
Spasticity and rigidity of muscles
Very rare (1-4%)HP:0001276
Related Conditions
Quick Facts
- SNOMED CT
- 267550008
- UMLS CUI
- C0272087
- Fully Specified Name
- Congenital methemoglobinemia (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 26
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.