All individuals with variants in gene OTX2

73 entries on 1 page. Showing entries 1 - 73.
Legend   How to query  

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00019839 - PubMed: Gilissen 2014 - ? ? - - - - - - ID developmental delay, no major dysmorphisms, no ocular anomalies, no pituitary deficiency 1 1 Marianne Vos (LOVD-team)
00036444 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00036445 - - - - - Germany - - - - - ? Mikrophthalmie, Balkenmangel, 1 1 Andreas Laner
00037524 - - - M no El Salvador Hispanic - - - - MCOPS5 Anophthalmia Short Stature Intellectual Disability Cerebral Palsy Cryptorchidism 1 1 Elena Semina
00181105 - - - M no - - - - - - AGOTC Agnathia-otocephaly complex 1 1 Isabel Filges
00314700 - PubMed: Slavotinek 2015 - F - United States - - - - - ? bilateral anophthalmia, growth delays, intellectual disability, autism 1 1 Johan den Dunnen
00331740 RP-1613 PubMed: Sanchez-Navarro 2018 - - - Spain - - - - - retinal disease Leber congenital amaurosis, congenital nystagmus, psychomotor delay, compulsive eating, muscular hypotonia, obesity, hypogonadism 1 1 LOVD
00331741 RP-2140 PubMed: Sanchez-Navarro 2018 - - - Spain - - - - - retinal disease congenital nystagmus, early-onset cone-rod dystrophy, developmental delay, panhypopituitarism 1 1 LOVD
00332099 F27‐M PubMed: Patel 2017 patient - no Saudi Arabia - - - - - MCOP - 1 1 LOVD
00332100 F28‐M PubMed: Patel 2017 patient - no Saudi Arabia - - - - - MCOP - 1 1 LOVD
00332204 JB275 PubMed: Bryant 2018 - - - United States - - - - - retinal disease - 1 1 LOVD
00333353 Pat9 PubMed: Costa 2017 - F - Brazil - - - - - retinal disease see paper; ... 1 1 LOVD
00358920 Fam32 PubMed: Wang 2016 family, 1 affected, unaffected non-carrier parents - - China Han - - - - retinal disease see paper; ... 1 1 LOVD
00359204 12010657 PubMed: Ellingford 2016 familial segregation analysis requested - - - - - - - - retinal disease - 1 1 LOVD
00363368 HM307 PubMed: Sun 2015 proband - - China - - - - - retinal disease - 1 1 LOVD
00363369 HM873 PubMed: Sun 2015 proband - - China - - - - - retinal disease - 1 1 LOVD
00372443 132 PubMed: Wang 2015 index case - - China - - - - - retinal disease see paper; ... 1 1 LOVD
00377809 - PubMed: Gonzalez Rodriguez 2010 - - - Mexico Mexican-mestizo - - - - retinal disease Bilateral microphthalmia None 1 1 LOVD
00380103 ? PubMed: Kersten 2018 - F - - - - - - - retinal disease Extensive large soft drusen and calcified drusen throughout the macula and reticular pseudodrusen around the retinal arcades 1 1 LOVD
00380995 - PubMed: Schorderet-2013 - - - Switzerland Swiss, Algerian or Tunisian - - - - retinal disease - 1 1 LOVD
00381213 - PubMed: Wang-2013 novel LOF mutations - no - - - - - - retinal disease - 1 1 Julia Lopez
00384624 Family 2 patient 1 PubMed: Ehrenberg 2019 - F no Israel - - - - - ? Retinitis pigmentosa (AR) and hemifacial microsomia (AD) 1 1 LOVD
00385165 58 PubMed: Jiman 2020 - M - (United Kingdom (Great Britain)) - - - - - retinal disease HP:0001250 Seizures; HP:0000545 Myopia; HP:0000510 Rod-cone dystrophy; HP:0000662 Nyctalopia; HP:0007663 Reduced visual acuity; HP:0000518 Cataract; HP:0000639 Nystagmus 1 1 LOVD
00386892 OGI2863_004448 PubMed: Zampaglione 2020 - ? - - - - - - - retinal disease - 1 1 LOVD
00390330 G000992 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - retinal disease - 1 1 LOVD
00394323 RP5 PubMed: Thorsteinsson 2021 - ? - Iceland - - - - - retinal disease Late-onset RP, slowly progressing, ERG consistent with RP 1 1 LOVD
00395589 RP-1691 PubMed: Perea-Romero 2021 - - - Spain - - - - - retinal disease congenital blindness, hypermetropia, nystagmus, atresia of the external auditory canal, microtia, third degree, poor motor coordination, unsteady gait, central hypotonia, abnormality of mandibular ramus 1 1 LOVD
00408871 1 PubMed: Ragge-2005 - M - - - - - - - retinal disease Vision: none, severe learning disability; Delayed speech, few words; left retinal detach- ment 1 1 LOVD
00408872 2 PubMed: Ragge-2005 - M - - - - - - - retinal disease Vision: none, cataracts: bilateral tunica vasculosa lentis, clear lenses neonatally ; Mother had pre- vious stillbirth at 38 wk ges- tation 1 1 LOVD
00408873 3A PubMed: Ragge-2005 - F - - - - - - - retinal disease Vision: none; Mother had ter- mination of pregnancy for brain malfor- mation and microphthal- mia; affected fetus (patient 3Bc) carried the c.252delC mutation 1 1 LOVD
00408874 4A PubMed: Ragge-2005 - F - - - - - - - retinal disease Vision: none, L: cataract, later onset, severe learning disability; Delayed speech, few words, later lost 1 1 LOVD
00408875 4B PubMed: Ragge-2005 - M - - - - - - - retinal disease Vision: 6/60, mild learning disability; Nystagmus , anterior com- missure thin; colliculi pre- sent, delayed speech and motor devel- opment 1 1 LOVD
00408876 5 PubMed: Ragge-2005 - M - - - - - - - retinal disease Vision: none, WAIS: VIQ 91 1 1 LOVD
00408877 6 PubMed: Ragge-2005 - M - - - - - - - retinal disease Vision: none, severe learning disability; Bilateral retinal detachment, posterior vitre- ous opacities; unaffected brother has P133T muta- tion 1 1 LOVD
00408878 7 PubMed: Ragge-2005 - F - - African - - - - retinal disease Vision: none, R: phthisical after postcataract extraction 1 1 LOVD
00408879 8 PubMed: Ragge-2005 - M - - - - - - - retinal disease Vision: R: 6/9.5, cataracts, attention-deficit/hyperactivity; Brachycephaly, dysplastic ears 1 1 LOVD
00408883 - PubMed: Henderson-2007 - F - - - - - - - retinal disease - 1 1 LOVD
00408884 - PubMed: Dateki-2008 - F no - Japanese - - - - retinal disease congenital bilateral anophthalmia and received cosmetic repair with artificial eyes at 15 d of age. She also had cleft palate that was surgically repaired at 1 yr 7 months of age. 1 1 LOVD
00408886 2 PubMed: Wyatt-2008 - F - (United Kingdom (Great Britain)) - - - - - retinal disease Anophthalmia 1 1 LOVD
00408887 3 PubMed: Wyatt-2008 - F - (United Kingdom (Great Britain)) - - - - - retinal disease RE: nystagmus LE: microphthalmia 1 1 LOVD
00408888 4 PubMed: Wyatt-2008 - M - (United Kingdom (Great Britain)) - - - - - retinal disease RE: microphthalmia 1 1 LOVD
00408889 5 PubMed: Wyatt-2008 - M - (United Kingdom (Great Britain)) - - - - - retinal disease RE: Anophthalmia, LE: coloboma 1 1 LOVD
00408890 6 PubMed: Wyatt-2008 - M - (United Kingdom (Great Britain)) - - - - - retinal disease Extreme Microphthalmia 1 1 LOVD
00408891 7 PubMed: Wyatt-2008 - F - (United Kingdom (Great Britain)) - - - - - retinal disease RE: inferior iris coloboma, LE: retinal coloboma 1 1 LOVD
00408892 8 PubMed: Wyatt-2008 - M - (United Kingdom (Great Britain)) - - - - - retinal disease Anophthalmia 1 1 LOVD
00408893 ? PubMed: Tajima-2009 - M no - Japanese - - - - retinal disease Bilateral anophthalmia; Severe short stature, severe developmental delay; Hypoplastic anterior pituitary, ectopic posterior, absence of optic nerve and chiasm, Chiari malformation 1 1 LOVD
00408894 NH13424 PubMed: Henderson-2009 - M - (United Kingdom (Great Britain)) - - - - - retinal disease - 1 1 LOVD
00408895 III-3 PubMed: Ashkenazi-Hoffnung-2010 The paternal side has several members with short stature and anophthalmia M no - Sephardic Jewish - - - - retinal disease Hypoplastic adenopituitary, interrupted stalk, ectopic neurohypophysis; Learning difficulties 1 1 LOVD
00408896 Patient 1A PubMed: Schilter-2011 affected father carries mutation F - - Caucasian - - - - retinal disease bilateral optic nerve hypoplasia/aplaisa, microcephaly, anteriorly placed anus, sacral dimple 1 1 LOVD
00408897 Patient 1B PubMed: Schilter-2011 father of 1A M - - Caucasian - - - - retinal disease LE: optic nerve hypoplasia/aplaisa, LE: anterior segment dysgenesis, cataract, (iris pseudocoloboma and posterior synechiae), lack of vascularization in the retinal periphery and absent papilla of the left eye 1 1 LOVD
00408898 Patient 2 PubMed: Schilter-2011 feeding difficulties parents' DNA normal F - - Caucasian - - - - retinal disease bilateral optic nerve hypoplasia/aplaisa, developmental delay/mental retardation, wolf-parkinson white syndrome 1 1 LOVD
00408899 Patient 3 PubMed: Schilter-2011 parents' DNA normal M - - Caucasian - - - - retinal disease bilateral optic nerve hypoplasia/aplaisa, abnormal pituitary structure, short stature, developmental delay/mental retardation, microcephaly, feeding difficulties 1 1 LOVD
00408900 Patient 4 PubMed: Schilter-2011 parents' DNA normal F - - Hispanic - - - - retinal disease bilateral optic nerve hypoplasia/aplaisa, abnormal pituitary structure, short stature, developmental delay/mental retardation, microcephaly, hypotonia, hypoplastic labia minora 1 1 LOVD
00408906 Fam1:II-9 PubMed: Vincent-2014 - M - - - - - - - retinal disease BCVA: RE:20/40 LE:20/25 1 1 LOVD
00408907 Fam1:II-10 PubMed: Vincent-2014 - M - - - - - - - retinal disease BCVA: RE:20/30 LE:CFat2m 1 1 LOVD
00408908 Fam1:III-1 PubMed: Vincent-2014 - F - - - - - - - retinal disease BCVA: RE:20/20 LE:20/30 1 1 LOVD
00408909 Fam1:III-2 PubMed: Vincent-2014 - F - - - - - - - retinal disease BCVA: RE:20/30 LE:20/30 1 1 LOVD
00408910 Fam1:III-3 PubMed: Vincent-2014 - F - - - - - - - retinal disease BCVA: RE:20/30 LE:20/40 1 1 LOVD
00408911 Fam2:I-1 PubMed: Vincent-2014 - M - - - - - - - retinal disease BCVA: RE:20/80 LE:20/200 1 1 LOVD
00408912 Fam2:II-1 PubMed: Vincent-2014 - F - - - - - - - retinal disease BCVA: RE:20/60 LE:20/100 1 1 LOVD
00408913 - PubMed: Abdalla-Elsayed-2017 - M - - - - - - - retinal disease bilateral microphthalmos and a slim prepubertal appearance 1 1 LOVD
00415186 1's grandmother PubMed: Matias-Perez 2018 OTX2 family, proband's grandmother F - - Mexican - - - - retinal disease microphthalmia right eye 1 1 LOVD
00415187 1's mother PubMed: Matias-Perez 2018 OTX2 family, proband's mother F - - Mexican - - - - retinal disease microphthalmia right eye 1 1 LOVD
00415188 1 PubMed: Matias-Perez 2018 OTX2 family, proband M - - Mexican - - - - retinal disease microphthalmia right eye; anophthalmia left eye 1 1 LOVD
00429877 - PubMed: Panneman 2023 - F - - - - - - - LCA - 1 1 Daan Panneman
00440407 PED3716.1 PubMed: Nambot 2018 - - - France - - - - - ? - 1 1 Johan den Dunnen
00444364 FamMA_1 PubMed: Riera 2017 2-generation family, 1 affected, unaffected carrier mother F - Spain Arab - - - - ? see paper; ..., bilateral anophthalmia; complete absence ocular globes; MRI absent optic nerve, absent chiasm, extraocular muscles present; no light perception 1 1 Johan den Dunnen
00447323 SRP-1277 PubMed: Weisschuh 2024 patient, no family history M - Germany - - - - - ? - 1 1 Johan den Dunnen
00468549 Pat19 PubMed: Chassaing 2014 2-generation family, affected fetus, unaffected parents M - France - - - - - MCOP 33wg-fetus; anophthalmia; MRI brain ventriculomegaly, Vermian heterotopia, cortical dysplasia; 1 1 Johan den Dunnen
00468550 FamCPat3;Pat20 PubMed: Chassaing 2007, PubMed: Chassaing 2014 family, 8 affected - - France - - - - - MCOP microphthalmia, coloboma; MRI brain normal; intellectual disability; 1 8 Johan den Dunnen
00468551 Pat21 PubMed: Chassaing 2014 2-generation family, affected fetus, unaffected parents M - France - - - - - MCOP 23wg-fetus; anophthalmia; MRI brain normal; 1 1 Johan den Dunnen
00468552 Pat22 PubMed: Chassaing 2014 4-generation family, affected female (2 affected fetuses), father, paternal grandmother F - France - - - - - MCOP anophthalmia; MRI brain normal; no intellectual disability; male fetus otocephaly-dysgnathia complex; 1 5 Johan den Dunnen
00468553 FamAPatIV7;Pat23 PubMed: Chassaing 2012, PubMed: Chassaing 2014 5-generation family, 17 affected F;M - France - - - - - MCOP anophthalmia; MRI brain normal; intellectual disability; family history includes otocephaly; 1 17 Johan den Dunnen
Legend   How to query  

Screenscraping/webscraping (interacting with LOVD using scripts to download data) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.