Additional Disease Briefs

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Rare Disease Database Reports Additional Rare Disease Briefs
semantic dementia

Also known as: FTD, Ftdp17, Ftld with Tau inclusions, Pallidopontonigral Degeneration, Pick Complex, Wilhelmsen-Lynch disease, dementia, frontotemporal, dementia, frontotemporal, with Parkinsonism, dementia, frontotemporal, with or without parkinsonism, disinhibition-dementia-Parkinsonism-amyotrophy Complex, frontotemporal dementia, frontotemporal dementia with Parkinsonism, frontotemporal lobar Degeneration with Tau inclusions, frontotemporal lobe dementia, multiple system tauopathy with presenile dementia, semantic primary progressive aphasia, semantic variant PPA

Sengers syndrome

Also known as: Sengers syndrome, cardiomyopathic mitochondrial DNA depletion syndrome 10, cardiomyopathy and cataract, cataract and cardiomyopathy, congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome, mitochondrial DNA depletion syndrome 10, mitochondrial DNA depletion syndrome 10 (Cardiomyopathic type)

Senior-Loken syndrome

Also known as: Loken Senior syndrome, SLSN, Senior Loken syndrome, nephronophthisis with retinal dystrophy, renal dysplasia retinal aplasia, renal dysplasia-retinal aplasia syndrome, renal-retinal syndrome

Senior-Loken syndrome 1

Also known as: Loken-Senior syndrome, NPHP1 Senior-Loken syndrome, SENIOR-Loken syndrome 1, SLSN1, Senior-Loken syndrome, Senior-Loken syndrome 1, Senior-Loken syndrome caused by mutation in NPHP1, Senior-Loken syndrome type 1, juvenile nephronophthisis with Leber amaurosis, renal dysplasia and retinal aplasia, renal-retinal syndrome, senior-loken syndrome-1

Senior-Loken syndrome 4

Also known as: NPHP4 Senior-Loken syndrome, SENIOR-Loken syndrome 4, SLSN4, Senior-Loken syndrome 4, Senior-Loken syndrome caused by mutation in NPHP4, Senior-Loken syndrome type 4

Senior-Loken syndrome 5

Also known as: IQCB1 Senior-Loken syndrome, SENIOR-Loken syndrome 5, SLSN5, Senior-Loken syndrome 5, Senior-Loken syndrome caused by mutation in IQCB1, Senior-Loken syndrome type 5

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