Disease #00549

Official abbreviation STL-5
Name Stickler syndrome, type V (STL-5)
OMIM ID 614284
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 1
Phenotype entries for this disease 0
Associated with 1 gene COL9A2
Associated tissues -
Disease features -
Remarks -


Individuals

1 entry on 1 page. Showing entry 1.
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00248521 - - 5-generation family, 8 affecteds; affected brother and sister, unaffected carrier father, mother and sibs - yes India Asian - 0 - - STL-5 - COL9A2 COL9A2 1 8 -
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