Disease #00189 (TSC-2 (tuberous sclerosis, type 2 (TSC-2)), OMIM:613254)

Official abbreviation TSC-2
Name tuberous sclerosis, type 2 (TSC-2)
OMIM ID 613254
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 9
Phenotype entries for this disease 16
Associated with 2 genes IFNG, TSC2
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Individuals

9 entries on 1 page. Showing entries 1 - 9.
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00117945 - - - M no - - - 0 - - TSC-2 endocannabinoid system alterations FAAH2 FAAH2 1 1 Casper Shyr
00228189 - - - - - - - - 0 - - TSC-2 - TSC2 TSC2 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00271536 - - - - - - - - 0 - - TSC-2 - TSC2 TSC2 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00275524 Pat2 PubMed: Xu 2018 - - - China - - 0 - - TSC-2 19m-developmental delay, facial dysmorphism, craniostenosis (corrected by plastic surgery), normal cardiac echocardiogram DMD DMD 1 1 Johan den Dunnen
00285939 3 Ding 2020, submitted - M no (China) - - 0 - sirolimus TSC-2 Hypomelanotic macules Subependymal nodules Retinal achromic patch TSC2 TSC2 1 1 Yifeng Ding
00286027 4 Ding 2020, submitted - F no (China) - - 0 - - TSC-2 Hypomelanotic macules Angiofibromas Shagreen patch Subependymal nodules Cortical tubers TSC2 TSC2 1 1 Yifeng Ding
00286028 5 Ding 2020, submitted - F no (China) - - 0 - - TSC-2 Hypomelanotic macules Cortical tubers Subependymal nodules TSC2 TSC2 1 1 Yifeng Ding
00286029 6 Ding 2020, submitted - M no (China) - - 0 - - TSC-2 Hypomelanotic macules Cardiac rhabdomyoma Subependymal nodules TSC2 TSC2 1 1 Yifeng Ding
00305930 28 - - M - China - - - - - TSC-2 - TSC2 TSC2 1 1 Sha Hong
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