Disease #00138 (TSD (Tay-Sach Disease), OMIM:272800)

Official abbreviation TSD
Name Tay-Sach Disease
OMIM ID 272800
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene HEXA
Associated tissues -
Disease features -
Remarks -


Individuals

1 entry on 1 page. Showing entry 1.
Legend   How to query  

AscendingIndividual ID     

Reference     

Gender     

Geographic origin     

Ethnic origin     

Population     

Remarks     

Microattribution     

Disease     

Phenotype details     

Genes screened

Variants in genes

Variants     

Panel size     

Owner     
00000742 L Y Chan et al.(2011) M Malaysia Malay - - - TSD He had spastic quadriplegia, decreased eye contact and hyperacusis. Ophthalmic assessment confirmed severe visual impairment and fundoscopic examination revealed bilateral retinal ‘cherry-red spots’ HEXA HEXA 2 1 Nur Aisyah Athirah
Legend   How to query