Disease #02091 (TSD (Tay-Sachs disease (TSD)), OMIM:272800)

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


Individuals

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00362733 - Abtahi2021 submitted - F yes Iran - - - - - TSD HP:0010729 Cherry red spot of the macula HP:0001250 Seizure HP:0002361 Psychomotor deterioration HP:0002376 Developmental regression HP:0001252 Hypotonia HEXA HEXA 1 1 Rezvan Abtahi
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