Additional Disease Briefs

cardiocranial syndrome, Pfeiffer type

Also known as: Cardiocranial syndrome, Pfeiffer Cardiocranial syndrome, Pfeiffer Singer Zschiesche syndrome, Pfeiffer-Singer-Zschiesche syndrome, Pfeiffer-type cardiocranial syndrome, craniostenosis, sagittal, with congenital heart disease, mental deficiency, and mandibular ankylosis, craniosynostosis-congenital heart disease-intellectual disability syndrome, sagittal craniostenosis with congenital heart disease, mental deficiency and mandibular ankylosis

cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1

Also known as: CEMCOX1, SCO2 fatal infantile encephalocardiomyopathy, cardioencephalomyopathy, fatal infantile, due to cytochrome C oxidase deficiency type 1, cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, cytochrome C oxidase deficiency, fatal infantile, with cardioencephalomyopathy, fatal infantile encephalocardiomyopathy caused by mutation in SCO2, mitochondrial complex IV deficiency, nuclear type 2

cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2

Also known as: CEMCOX2, COX15 fatal infantile encephalocardiomyopathy, cardioencephalomyopathy, fatal infantile, due to cytochrome C oxidase deficiency type 2, cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, fatal infantile encephalocardiomyopathy caused by mutation in COX15, mitochondrial complex IV deficiency, nuclear type 6

cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3

Also known as: CEMCOX3, COA5 fatal infantile encephalocardiomyopathy, cardioencephalomyopathy, fatal infantile, due to cytochrome C oxidase deficiency type 3, cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3, fatal infantile encephalocardiomyopathy caused by mutation in COA5, mitochondrial complex IV, deficiency, nuclear type 9

cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4

Also known as: CEMCOX4, COA6 fatal infantile encephalocardiomyopathy, cardioencephalomyopathy, fatal infantile, due to cytochrome C oxidase deficiency type 4, cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4, fatal infantile encephalocardiomyopathy caused by mutation in COA6, mitochondrial complex IV deficiency, nuclear type 13

cardiofaciocutaneous syndrome 1

cardiofaciocutaneous syndrome 2

Also known as: CFC2, KRAS cardiofaciocutaneous syndrome, cardiofaciocutaneous syndrome 2, cardiofaciocutaneous syndrome caused by mutation in KRAS, cardiofaciocutaneous syndrome caused by mutation in kras, cardiofaciocutaneous syndrome type 2, kras cardiofaciocutaneous syndrome

cardiofaciocutaneous syndrome 3

Also known as: CFC3, MAP2K1 cardiofaciocutaneous syndrome, cardiofaciocutaneous syndrome 3, cardiofaciocutaneous syndrome caused by mutation in MAP2K1, cardiofaciocutaneous syndrome type 3

cardiofaciocutaneous syndrome 4

Also known as: CFC4, MAP2K2 cardiofaciocutaneous syndrome, cardiofaciocutaneous syndrome 4, cardiofaciocutaneous syndrome caused by mutation in MAP2K2, cardiofaciocutaneous syndrome type 4