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GENATLAS PHENOTYPE

last update : 06-11-2024

Symbol	PRAAS4
Location	18p11.21
Name	proteasome-associated autoinflammatory syndrome 4
Corresponding gene	PSMG2
Main clinical features	immunologic disorder characterized by onset of panniculitis and erythematous skin lesions in early infancy also hepatosplenomegaly, lymphadenopathy, fever, generalized lipodystrophy, myositis, and joint contractures, as well as delayed motor and speech development associated with elevation of acute phase reactants and abnormal activation of the type I interferon response
Genetic determination	autosomal recessive
Function/system disorder	defense and immunity
	mental retardation
Type	disease

Remark(s)