Immunodeficiency 90 with Encephalopathy, Functional Hyposplenia, and Hepatic Dysfunction (IMD90)

Immunodeficiency 90 with Encephalopathy, Functional Hyposplenia, and Hepatic Dysfunction(来自ICD-11)
别称:
Infections, Recurrent, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations
Fadd-Related Immunodeficiency
Infections, Recurrent, Associated with Encephalopathy, Hepatic Dysfunction and Cardiovascular Malformations
Fadd Deficiency
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Imd90
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Immunodeficiency 90 with Encephalopathy, Functional Hyposplenia, and Hepatic Dysfunction, also known as infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations, is related to macular dystrophy, dominant cystoid and retinal detachment, and has symptoms including seizures An important gene associated with Immunodeficiency 90 with Encephalopathy, Functional Hyposplenia, and Hepatic Dysfunction is FADD (Fas Associated Via Death Domain). Affiliated tissues include liver and brain, and related phenotypes are seizure and encephalopathy
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MALACARDS
AR
Newborn
<1/1000000
1
15
3

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