ISCU myopathy in short Synonyms Prevalence: <1 / 1 000 000 Inheritance: Autosomal recessive Age of onset: Childhood Epidemiology – How common is ISCU myopathy? What are the symptoms of ISCU myopathy? Clinical description What causes this condition? How is this condition diagnosed? Differential diagnosis The differential diagnosis includes Antenatal diagnosis Genetic counseling Management and treatment – How …
ISCA1 deficiency in short Synonyms Prevalence: <1 / 1 000 000 Inheritance: Autosomal recessive Age of onset: Infancy
IRVAN syndrome in short Synonym Prevalence: <1 / 1 000 000 Inheritance: Not applicable Age of onset: Adolescent, Adult, Childhood What are the symptoms of IRVAN syndrome? Frequent symptoms Occasional symptoms
IRIDA syndrome in short Iron-Refractory Iron Deficiency Anemia (IRIDA) syndrome is a rare autosomal recessive disorder of iron metabolism, marked by hypochromic, microcytic anemia that does not respond to oral iron supplementation and shows only partial improvement with parenteral iron therapy. Synonyms Prevalence: <1 / 1 000 000 Inheritance: Autosomal recessive Age of onset: Infancy, Neonatal How common …
CINCA syndrome in short Synonyms Inheritance: Autosomal dominant, Not applicable Age of onset: Infancy, Neonatal How common is CINCA syndrome? What are the symptoms of CINCA syndrome? Very Frequent Symptoms Frequent Symptoms Occasional symptoms Clinical description What causes this condition? How is this condition diagnosed? Differential diagnosis An infectious disease is often suspected at disease onset. CINCA …
IMAGe syndrome Synonyms Prevalence: <1 / 1 000 000 Inheritance: Autosomal dominant, Autosomal recessive Age of onset: Infancy, Neonatal What are the symptoms of IMAGe syndrome? Very Frequent Symptoms
IHPRF syndrome Synonyms Inheritance: Autosomal recessive Age of onset: Infancy, Neonatal What are the symptoms of IHPRF syndrome? Very frequent symptoms Frequent symptoms Occasional symptoms