ODCs

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1 OMIM reference -
1 associated gene
17 signs/symptoms

COMMON GENES: 1

1 OMIM reference -
1 associated gene
2 signs/symptoms

Neuroferritinopathy

Hereditary hyperferritinemia with congenital cataracts

FTL

FTL

Citations in the biomedical literature:

Neuroferritinopathy		Hereditary hyperferritinemia with congenital cataracts
	Synonym(s): - Adult basal ganglia disease - Ferritin-related neurodegeneration - Hereditary ferritinopathy		Synonym(s): - Bonneau-Beaumont syndrome - HHCS - Hereditary hyperferritinemia-cataract syndrome

	Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare eye disease - Rare genetic disease

	Classification (ICD10): - Diseases of the nervous system -		Classification (ICD10): - Diseases of the eye and adnexa -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: adulthood Average age of death: elderly Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: variable Average age of death: normal Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: C548080		External references: 1 OMIM reference - 1 MeSH reference: C538137

Neuroferritinopathy		Hereditary hyperferritinemia with congenital cataracts
	Very frequent - Ataxia / incoordination / trouble of the equilibrium - Autosomal dominant inheritance - Chorea / athetosis / choreoathetosis / choreic syndrome - Dystonia / torticollis / writer's cramp / blepharospasms - Hypertonia / spasticity / rigidity / stiffness Frequent - Abnormal eye movements / oculomotor disorder - Abnormal gait - Execution movement disorder / dysmetria / bradykinesia / akinesia / apraxia - Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia - Motor deficit / trouble Occasional - Alexia / agraphia / writing / reading troubles - Constipation - Elocution disorders / dysarthria / dysphonia - Hypotension - Obnubilation / coma / lethargia / desorientation - Psychic / psychomotor regression / dementia / intellectual decline - Tremor		Very frequent - Cataract / lens opacification - Metabolic anomalies