Additional Disease Briefs

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Rare Disease Database Reports Additional Rare Disease Briefs
developmental and epileptic encephalopathy, 43

Also known as: DEE43, EIEE43, GABRB3 early infantile epileptic encephalopathy, developmental and epileptic encephalopathy 43, early infantile epileptic encephalopathy caused by mutation in GABRB3, epileptic encephalopathy, early infantile, 43, epileptic encephalopathy, early infantile, 43; EIEE43, epileptic encephalopathy, early infantile, type 43

developmental and epileptic encephalopathy, 44

Also known as: DEE44, EIEE44, UBA5 early infantile epileptic encephalopathy, developmental and epileptic encephalopathy 44, early infantile epileptic encephalopathy caused by mutation in UBA5, epileptic encephalopathy, early infantile, 44, epileptic encephalopathy, early infantile, 44; EIEE44, epileptic encephalopathy, early infantile, type 44

developmental and epileptic encephalopathy, 45

Also known as: DEE45, EIEE45, GABRB1 early infantile epileptic encephalopathy, developmental and epileptic encephalopathy 45, early infantile epileptic encephalopathy caused by mutation in GABRB1, epileptic encephalopathy, early infantile, 45, epileptic encephalopathy, early infantile, 45; EIEE45, epileptic encephalopathy, early infantile, type 45

developmental and epileptic encephalopathy, 46

Also known as: DEE46, EIEE46, GRIN2D early infantile epileptic encephalopathy, developmental and epileptic encephalopathy 46, early infantile epileptic encephalopathy caused by mutation in GRIN2D, epileptic encephalopathy, early infantile, 46, epileptic encephalopathy, early infantile, 46; EIEE46, epileptic encephalopathy, early infantile, type 46

developmental and epileptic encephalopathy, 47

Also known as: DEE47, EIEE47, FGF12 early infantile epileptic encephalopathy, developmental and epileptic encephalopathy 47, early infantile epileptic encephalopathy caused by mutation in FGF12, epileptic encephalopathy, early infantile, 47, epileptic encephalopathy, early infantile, 47; EIEE47, epileptic encephalopathy, early infantile, type 47

developmental and epileptic encephalopathy, 48

Also known as: AP3B2 early infantile epileptic encephalopathy, DEE48, EIEE48, developmental and epileptic encephalopathy 48, early infantile epileptic encephalopathy caused by mutation in AP3B2, epileptic encephalopathy, early infantile, 48, epileptic encephalopathy, early infantile, 48; EIEE48, epileptic encephalopathy, early infantile, type 48

developmental and epileptic encephalopathy, 49

Also known as: DEE49, DENND5A early infantile epileptic encephalopathy, EIEE49, developmental and epileptic encephalopathy 49, early infantile epileptic encephalopathy caused by mutation in DENND5A, epileptic encephalopathy, early infantile, 49, epileptic encephalopathy, early infantile, 49; EIEE49, epileptic encephalopathy, early infantile, type 49

developmental and epileptic encephalopathy, 5

Also known as: DEE5, EIEE5, SPTAN1 early infantile epileptic encephalopathy, developmental and epileptic encephalopathy 5, early infantile epileptic encephalopathy caused by mutation in SPTAN1, epileptic encephalopathy, early infantile, 5, epileptic encephalopathy, early infantile, type 5

developmental and epileptic encephalopathy, 50

Also known as: CAD-CDG, CDG syndrome type Iz, CDG-Iz, CDG1Z, DEE50, EIEE50, carbohydrate deficient glycoprotein syndrome type Iz, congenital disorder of glycosylation type 1z, congenital disorder of glycosylation, type Iz, congenital disorder of glycosylation, type Iz, formerly, developmental and epileptic encephalopathy 50, epileptic encephalopathy, early infantile, 50

developmental and epileptic encephalopathy, 51

Also known as: DEE51, EIEE51, MDH2 early infantile epileptic encephalopathy, developmental and epileptic encephalopathy 51, early infantile epileptic encephalopathy caused by mutation in MDH2, epileptic encephalopathy, early infantile, 51, epileptic encephalopathy, early infantile, 51; EIEE51, epileptic encephalopathy, early infantile, type 51

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