Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abnormality of the basal ganglia
Very frequent (80-99%)HP:0002134
Cognitive deficits
Very frequent (80-99%)HP:0100543
Decreased circulating ferritin concentration
Very frequent (80-99%)HP:0012343
Dystonic disease
Very frequent (80-99%)HP:0001332
Iron accumulation in brain
Very frequent (80-99%)HP:0012675
Abnormal caudate nucleus morphology
Frequent (30-79%)HP:0002339
Abnormal putamen morphology
Frequent (30-79%)HP:0031982
Abnormal thalamic MRI signal intensity
Frequent (30-79%)HP:0012696
Abnormality of the dentate nucleus
Frequent (30-79%)HP:0100321
Choreatic disease
Frequent (30-79%)HP:0002072
Decreased facial muscle movement
Frequent (30-79%)HP:0000338
Deglutition disorder
Frequent (30-79%)HP:0002015
Difficulty articulating speech
Frequent (30-79%)HP:0001260
Dysphonia
Frequent (30-79%)HP:0001618
Emotional lability
Frequent (30-79%)HP:0000712
Eye of the tiger anomaly of globus pallidus
Frequent (30-79%)HP:0002454
Focal dystonia
Frequent (30-79%)HP:0004373
Gait disturbance
Frequent (30-79%)HP:0001288
Involuntary movements
Frequent (30-79%)HP:0004305
Iron accumulation in substantia nigra
Frequent (30-79%)HP:0012678
Leg dystonia
Frequent (30-79%)HP:0031959
Orofacial dyskinesias
Frequent (30-79%)HP:0002310
Slowness of movements
Frequent (30-79%)HP:0002067
T2 hypointense thalamus
Frequent (30-79%)HP:0012690
Aphonia
Occasional (5-29%)HP:0001686
Arm dystonia
Occasional (5-29%)HP:0031960
Brisk deep tendon reflexes
Occasional (5-29%)HP:0001348
Caudate degeneration
Occasional (5-29%)HP:0002340
Impaired smooth pursuit
Occasional (5-29%)HP:0007772
Involuntary closure of eyelid
Occasional (5-29%)HP:0000643
Quick Facts
- SNOMED CT
- 699299001
- UMLS CUI
- C1853578
- Fully Specified Name
- Neuroferritinopathy (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.