Disease #02062

Official abbreviation Sandhoff
Name Sandhoff disease
OMIM ID 268800
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 17
Phenotype entries for this disease 17
Associated with 1 gene HEXB
Associated tissues -
Disease features -
Remarks -


Individuals

17 entries on 1 page. Showing entries 1 - 17.
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00080934 - Trujillano et al., submitted unaffected parents - - - - - 0 - - Sandhoff Sandhoff disease, infantile, juvenile, and adult forms (OMIM:268800) HEXB HEXB 1 1 Daniel Trujillano
00081015 - Trujillano et al., submitted unaffected parents - - - - - 0 - - Sandhoff Sandhoff disease, infantile, juvenile, and adult forms (OMIM:268800) HEXB HEXB 1 1 Daniel Trujillano
00132191 SD-1 Oller Ramirez, SAG2017, Cordoba - - - Argentina - - 0 - - Sandhoff infantile HEXB HEXB 1 1 Johan den Dunnen
00132192 SD-2 Oller Ramirez, SAG2017, Cordoba - - - Argentina - - 0 - - Sandhoff infantile HEXB HEXB 2 1 Johan den Dunnen
00132193 SD-3 Oller Ramirez, SAG2017, Cordoba - - - Argentina - - 0 - - Sandhoff infantile HEXB HEXB 1 1 Johan den Dunnen
00132194 SD-4 Oller Ramirez, SAG2017, Cordoba - - - Argentina - - 0 - - Sandhoff infantile HEXB HEXB 1 1 Johan den Dunnen
00132195 SD-5 Oller Ramirez, SAG2017, Cordoba - - - Argentina - - 0 - - Sandhoff infantile HEXB HEXB 1 1 Johan den Dunnen
00132196 SD-6 Oller Ramirez, SAG2017, Cordoba - - - Argentina - - 0 - - Sandhoff infantile HEXB HEXB 2 1 Johan den Dunnen
00132197 SD-7 Oller Ramirez, SAG2017, Cordoba - - - Argentina - - 0 - - Sandhoff juvenile HEXB HEXB 2 1 Johan den Dunnen
00132198 SD-8 Oller Ramirez, SAG2017, Cordoba - - - Argentina - - 0 - - Sandhoff infantile HEXB HEXB 1 1 Johan den Dunnen
00132200 FamVeBN Oller Ramirez, SAG2017, Cordoba - - - Argentina - - 0 - - Sandhoff - HEXB HEXB 2 1 Johan den Dunnen
00132201 FamVeL Oller Ramirez, SAG2017, Cordoba - - - Argentina - - 0 - - Sandhoff - HEXB HEXB 2 1 Johan den Dunnen
00132202 FamVaA Oller Ramirez, SAG2017, Cordoba - - - Argentina - - 0 - - Sandhoff - HEXB HEXB 2 1 Johan den Dunnen
00132203 FamMM Oller Ramirez, SAG2017, Cordoba - - - Argentina - - 0 - - Sandhoff - HEXB HEXB 2 1 Johan den Dunnen
00132204 FamScG Oller Ramirez, SAG2017, Cordoba - - - Argentina - - 0 - - Sandhoff - HEXB HEXB 2 1 Johan den Dunnen
00132205 FamGuS Oller Ramirez, SAG2017, Cordoba - - - Argentina - - 0 - - Sandhoff - HEXB HEXB 2 1 Johan den Dunnen
00132206 ? Oller Ramirez, SAG2017, Cordoba - - - Argentina - - 0 - - Sandhoff - HEXB - 0 1 Johan den Dunnen
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