Familial cold urticaria in short Epidemiology Clinical description What are the symptoms of Familial cold urticaria? Very Frequent Symptoms Frequent Symptoms Occasional Symptoms Etiology – What causes Familial cold urticaria? Genetic counseling
Familial cerebral cavernous malformation Epidemiology The total prevalence of CCMs is estimated between 1/200 and 1/1,000 people. Familial cerebral cavernous malformation (FCCM), representing approximately 20% of all CCM cases, has an estimated occurrence rate of 1/5,000 – 1/10,000, making it uncommon compared to the more frequent sporadic CCMs. Hispanic-American CCM families demonstrate a notable founder …
ITM2B amyloidosis in short Synonyms How common is this condition? Prevalence: <1 / 1 000 000 Inheritance Age of onset What are the symptoms of ITM2B amyloidosis?
ITK deficiency in short Synonyms Prevalence: <1 / 1 000 000 Inheritance: Autosomal recessive Age of onset: Adolescent, Childhood
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