L-ferritin deficiency

Orpha code: 440731OMIM code: 615604

Definicja

A rare genetic hematologic disease characterized by decreased or undetectable serum L-ferritin with otherwise normal laboratory parameters. Clinical signs and symptoms include generalized seizures, atypical restless leg syndrome, mild neuropsychologic impairment, and progressive hair loss. Asymptomatic cases have also been reported.

Disease data
Klasyfikacja

Biological anomaly

Kod ORPHA
440731
Kod OMIM
615604
Kod ICD10
E88.0
Kod ICD11
-

No additional description.

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