Additional Disease Briefs

encephalitozoonosis

Also known as: infection by Encephalitozoon

encephalocraniocutaneous lipomatosis

Also known as: ECCL, Fishman syndrome, Haberland syndrome, encephalocraniocutaneous lipomatosis, encephalocraniocutaneous lipomatosis, somatic mosaic

encephalopathy due to beta-mercaptolactate-cysteine disulfiduria

Also known as: 3-mercaptopyruvate sulfurtransferase deficiency, Ampola syndrome, Beta-mercaptolactate cysteine disulfiduria, MCDU, disulfiduria, mixed, mercaptolactate-cysteine disulfiduria

encephalopathy due to defective mitochondrial and peroxisomal fission 2

Also known as: EMPF2, Leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome, MFF-associated encephalopathy due to peroxisomal and mitochondrial fission defect, encephalopathy due to defective mitochondrial and peroxisomal fission 2, encephalopathy due to defective mitochondrial and peroxisomal fission type 2

encephalopathy due to hydroxykynureninuria

Also known as: Xanthurenic aciduria, hydroxykynureninuria, kynureninase deficiency, kynureninase deficiency, partial

encephalopathy due to sulfite oxidase deficiency

encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome

Also known as: COQ10D5, coenzyme Q10 deficiency, primary, 5, coenzyme Q10 deficiency, primary, type 5

encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1

Also known as: DNM1L-associated encephalopathy due to peroxisomal and mitochondrial fission defect, EMPF, EMPF1, encephalopathy due to defective mitochondrial and peroxisomal fission 1, encephalopathy, lethal, due to defective mitochondrial and peroxisomal fission, encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, lethal encephalopathy due to mitochondrial and peroxisomal fission defect

encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1

Also known as: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 1, NAD(P)HX epimerase deficiency, PEBEL1, encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, encephalopathy, progressive, early-onset, with brain oedema and/or leukoencephalopathy