Disease #00402 (OCCO (coloboma, ocular (OCCO)))

Official abbreviation OCCO
Name coloboma, ocular (OCCO)
OMIM ID -
Inheritance -
Individuals reported having this disease 9
Phenotype entries for this disease 9
Associated with 1 gene MAB21L2
Associated tissues -
Disease features -
Remarks -
Date created 2014-06-06 10:27:02 +02:00 (CEST)
Date last edited 2015-12-07 07:11:25 +01:00 (CET)


Individuals

9 entries on 1 page. Showing entries 1 - 9.
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00444366 ADN120143 PubMed: Aubert-Mucca 2021 2-generation family, 1 affected, unaffected non-carrier mother F no France Algeria;Morocco - - - - OCCO see paper; ..., no microphthalmia; R iris, choroidal, and optic disc coloboma; L choroidal and optic disc coloboma; right cortical cataract; bilateral congenital deafness; neurocognitive difficulties - FZD5 1 1 Johan den Dunnen
00444367 ADN140259 PubMed: Aubert-Mucca 2021 2-generation family, 1 affected, unaffected parents/sibs F no France Algeria - - - - OCCO see paper; ..., no microphthalmia; R optic disc coloboma; L iris and optic disc coloboma with cortical cataract; congenital nystagmus, high myopia - FZD5 1 1 Johan den Dunnen
00444368 SG170145/Pat3 PubMed: Aubert-Mucca 2021 2-generation family, affected mother/daughter F - France - - - - - OCCO see paper; ..., no microphthalmia; bilateral iris and large chorioretinal coloboma, with R posterior cataract; secondary congenital nystagmus, high myopia - FZD5 1 2 Johan den Dunnen
00444369 SG170145/Pat4 PubMed: Aubert-Mucca 2021 mother F - France - - - - - OCCO see paper; ..., bilateral OD coloboma - FZD5 1 1 Johan den Dunnen
00444370 ADN150083 PubMed: Aubert-Mucca 2021 2-generation family, 1 affected, unaffected non-carrier parents M - France - - - - - OCCO see paper; ..., no microphthalmia; bilateral iris coloboma, with unilateral hyperopia; diaphragmatic hernia - RARB 1 1 Johan den Dunnen
00444371 SG080744 PubMed: Aubert-Mucca 2021 2-generation family, 1 affected F - France - - - - - OCCO see paper; ..., no microphthalmia; R iris coloboma; L macular and optic disc coloboma - PTCH1 1 2 Johan den Dunnen
00444372 SG102327 PubMed: Aubert-Mucca 2021 2-generation family, 1 affected M - France - - - - - OCCO see paper; ..., no microphthalmia; bilateral retinal coloboma - RBP4 1 1 Johan den Dunnen
00444373 LGN120039 PubMed: Aubert-Mucca 2021 2-generation family, affected daughter/father F - France - - - - - OCCO see paper; ..., microphthalmia, intellectual disability, autistic features, craniofacial dysmorphy with scaphocephaly, no rhizomelic skeletal dysplasia; father isolated bilateral colobomatous microphthalmia - MAB21L2 1 1 Johan den Dunnen
00444374 SG130194 PubMed: Aubert-Mucca 2021 3-generation family, affected girl/mother/maternal grandfather F - France - - - - - OCCO see paper; ..., microphthalmia; bilateral optic disc coloboma with unilateral microphthalmia - TFAP2A 1 3 Johan den Dunnen
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