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

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AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     

Individual ID     
0000258103 HP:0010729 Cherry red spot of the macula HP:0001250 Seizure HP:0002361 Psychomotor deterioration HP:0002376 Developmental regression HP:0001252 Hypotonia Tay-sachs Disease Tay-sachs Disease Familial, autosomal recessive - - - infantile - Rezvan Abtahi 00362733
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