Disease #00698 (Stickler sydrome, type I, nonsyndromic ocular, OMIM:609508)

Official abbreviation -
Name Stickler sydrome, type I, nonsyndromic ocular
OMIM ID 609508
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 10
Phenotype entries for this disease 10
Associated with 1 gene COL2A1
Associated tissues -
Disease features -
Remarks -


Individuals

10 entries on 1 page. Showing entries 1 - 10.
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00024337 - PubMed: Richards 2000, PubMed: Richards 2006 - - no (United Kingdom (Great Britain)) - - 0 - - Stickler sydrome, type I, nonsyndromic ocular Predominant ocular COL2A1 COL2A1 1 8 Isabelle Touitou
00024338 - PubMed: Richards 2000, PubMed: Richards 2006 - - no (United Kingdom (Great Britain)) - - 0 - - Stickler sydrome, type I, nonsyndromic ocular Predominant ocular COL2A1 COL2A1 1 7 Isabelle Touitou
00024339 - PubMed: Richards 2000, PubMed: Richards 2006 - - no (United Kingdom (Great Britain)) - - 0 - - Stickler sydrome, type I, nonsyndromic ocular Predominant ocular COL2A1 COL2A1 1 9 Isabelle Touitou
00024364 - - - - - ? (unknown) - - 0 - - Stickler sydrome, type I, nonsyndromic ocular vitreoretinal degeneration, Wagner COL2A1 COL2A1 1 1 Johan den Dunnen
00024365 - - - - - ? (unknown) - - 0 - - Stickler sydrome, type I, nonsyndromic ocular vitreoretinopathy with phalang; dysplasia, epiphysial COL2A1 COL2A1 1 1 Johan den Dunnen
00024457 - - - F - ? (unknown) - - 0 - - Stickler sydrome, type I, nonsyndromic ocular Predominantly ocular COL2A1 COL2A1 1 1 Isabelle Touitou
00024458 - - - F - ? (unknown) - - 0 - - Stickler sydrome, type I, nonsyndromic ocular Predominantly ocular COL2A1 COL2A1 1 1 Isabelle Touitou
00024505 - - - - ? (United Kingdom (Great Britain)) - - 0 - - Stickler sydrome, type I, nonsyndromic ocular Predominantly ocular COL2A1 COL2A1 1 2 Isabelle Touitou
00024508 - - - - ? (United Kingdom (Great Britain)) - - 0 - - Stickler sydrome, type I, nonsyndromic ocular Predominantly ocular COL2A1 COL2A1 1 2 Isabelle Touitou
00301042 - - - - - - - - - - - Stickler sydrome, type I, nonsyndromic ocular - COL2A1 COL2A1 1 1 Gemeinschaftspraxis für Humangenetik Dresden
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