Disease #00048 (ISSD (sialic acid storage disorder, infantile (ISSD)), OMIM:269920)

Official abbreviation ISSD
Name sialic acid storage disorder, infantile (ISSD)
OMIM ID 269920
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 1
Phenotype entries for this disease 0
Associated with 1 gene SLC17A5
Associated tissues -
Disease features -
Remarks -


Individuals

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00401512 124P - - M no Spain - - - - - ID, ISSD, SD - - SLC17A5 2 1 Alejandro Brea-Fernández
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