All individuals with variants in gene PITX2

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00025059 family PubMed: Zhao 2015 3-generation family, 4 affected - - China - - - - - RIEG1 endocardial cushion defect, Axenfeld-Rieger syndrome 1 4 Yi-Qing Yang
00029825 - - - M - - - - - - - RIEG1 camptodactyly of the right fifth finger, clinodactyly of the left one, bilateral Simian creases,atrial and ventricular septal defects,omphalocele 1 1 Moretza Seifi
00032402 - PubMed: Zuo 2013, Journal: Zuo 2013 - - - China Chinese, Han - - - - ATFB lone atrial fibrillation, no malformations eyes/teeth/umbilicus/heart; onset 32y 1 1 Johan den Dunnen
00032403 - PubMed: Yuan 2013, Journal: Yuan 2013 - M - China Chinese, Han >12y - - - ASD - 1 1 Johan den Dunnen
00032404 - PubMed: Yuan 2013, Journal: Yuan 2013 - F - China Chinese, Han >03y - - - ASD no malformations eyes/teeth/umbilicus 1 1 Johan den Dunnen
00032405 - PubMed: Wang 2013, Journal: Wang 2013 3-generation family, 1 affected M no China Chinese, Han >01y - - - VSD ventricular septal defect, double outlet right ventricle 1 1 Johan den Dunnen
00032406 - PubMed: Wang 2013, Journal: Wang 2013 3-generation family, 4 affecteds (2F, 2M) - no China Chinese, Han - - - - VSD see paper; ventricular septal defect, atrial septal defect, .. 1 4 Johan den Dunnen
00032407 - PubMed: Wang 2014, Journal: Wang 2014 3-generation family, 4 affecteds (1F, 3M) - - China Chinese, Han - - - - ATFB see paper; .. 1 4 Johan den Dunnen
00032452 - - - - - (United Kingdom (Great Britain)) - - - - - RIEG anterior segment developmental anomaly, posterior embryotoxon 1 1 Daniel Kelberman
00032453 - PubMed: Reis 2012 - - - - - - - - - RIEG1 no heart defect; no hearing loss; ankyloglossia; redundant umbilical skin; umbilical hernia (HP:0001537); Axenfeld-Rieger syndrome, microcornea; microdontia, dental anomaly 1 1 Elena Semina
00032454 - PubMed: Reis 2012 family - - - - - - - - RIEG1 no heart defect; redundant umbilical skin; Axenfeld-Rieger syndrome; hypodontia 1 3 Elena Semina
00032455 - PubMed: Reis 2012 child of Pat2A - - - - - - - - RIEG1 no heart defect; no hearing loss; developmental delay, hypertelorism, prominent forehead; redundant umbilical skin; Axenfeld-Rieger syndrome; hypodontia 1 1 Elena Semina
00032456 - PubMed: Reis 2012 child of Pat2A - - - - - - - - RIEG1 no heart defect; hearing loss; omphalocele (HP:0001539); Axenfeld-Rieger syndrome 1 1 Elena Semina
00032457 - PubMed: Reis 2012 - - - - - - - - - RIEG1 no heart defect; no hearing loss; umbilical hernia (HP:0001537); Axenfeld-Rieger syndrome; hypodontia 1 1 Elena Semina
00032458 - PubMed: Reis 2012 family - - - - - - - - RIEG1 no heart defect; no hearing loss; hypospadias; redundant umbilical skin; Axenfeld-Rieger syndrome, glaucoma, vascular loops; hypodontia 1 2 Elena Semina
00032459 - PubMed: Reis 2012 child of Pat4A - - - - - - - - RIEG1 no heart defect; no hearing loss; maxillary hypoplasia, small mouth, hair whorl ankyloglossia, sacral dimple; redundant umbilical skin; umbilical hernia (HP:0001537); Axenfeld-Rieger syndrome 1 1 Elena Semina
00032460 - PubMed: Reis 2012 - - - - - - - - - RIEG1 no heart defect; no hearing loss; maxillary hypoplasia, Imperforate anus, thin upper lip; redundant umbilical skin; Axenfeld-Rieger syndrome, aniso-metropia; hypodontia, microdontia 1 1 Elena Semina
00032461 - PubMed: Reis 2012 - - - - - - - - - RIEG1 no heart defect; no hearing loss; mild developmental delay, short stature, failure to thrive, abnormal head size; redundant umbilical skin; Axenfeld-Rieger syndrome; hypodontia 1 1 Elena Semina
00032462 - PubMed: Reis 2012 - - - - - - - - - RIEG1 no heart defect; no hearing loss; maxillary hypoplasia, small mouth, high arched palate, hyperextensible joints; clinodactyly; narrow nails, lopped ears, prominent occiput; redundant umbilical skin; Axenfeld-Rieger syndrome; hypodontia, microdontia 1 1 Elena Semina
00032463 - PubMed: Reis 2012 - - - - - - - - - RIEG1 anomalous pulmonary venous return; no hearing loss; DD, short stature, failure to thrive; redundant umbilical skin; strabismus, amblyopia; hypodontia 1 1 Elena Semina
00032464 - PubMed: Reis 2012 - - - - - - - - - RIEG1 no heart defect; no hearing loss; GD, nasal bridge anomaly, high arched palate, prognathia, smooth philtrum, long thin face, posteriorly rotated ears, microcephaly; umbilical hernia (HP:0001537); Peters anomaly, nystagmus, esotropia; normal teeth 1 1 Elena Semina
00032465 - PubMed: Reis 2012 - - - - - - - - - RIEG1 no heart defect; no hearing loss; Hypertelorism, Meckel's diverticulum; umbilical hernia (HP:0001537); Axenfeld-Rieger syndrome; hypodontia, delayed eruption 1 1 Elena Semina
00032466 - PubMed: Reis 2012 - - - - - - - - - RIEG1 no heart defect; no hearing loss; maxillary hypoplasia, microcephaly, thin upper lip, short philtrum, mild developmental delay, asymmetric ocular position; redundant umbilical skin; Axenfeld-Rieger syndrome, myopia; hypodontia, microdontia 1 1 Elena Semina
00032467 - PubMed: Maciolek 2006 2-generation family, isolated patient M - United States - - - - - RIEG1 see paper 1 1 Johan den Dunnen
00032468 - PubMed: Maciolek 2006 4-generation family, 7 affecteds (2F, 5M) - - United States - - - - - RIEG1 see paper 1 7 Johan den Dunnen
00032469 - PubMed: Maciolek 2006 4-generation family, 7 affecteds (6F) F - United States - - - - - RIEG1 see paper 1 6 Johan den Dunnen
00032470 - PubMed: Reis 2012 - - - - - - - - - RIEG1 no heart defect; no hearing loss; abnormality umbilicus (HP:0001551); Axenfeld-Rieger syndrome; dental anomaly 1 1 Elena Semina
00032471 - PubMed: Reis 2012 - - - - - - - - - RIEG1 no heart defect; no hearing loss; maxillary hypoplasia, prognathia, Meckel's diverticulum; redundant umbilical skin; Axenfeld-Rieger syndrome, microcornea; hypodontia, microdontia 1 1 Elena Semina
00032472 - PubMed: Reis 2012 - - - - - - - - - RIEG1 no heart defect; no hearing loss; Prognathia, Meckel's diverticulum, broad forehead; umbilical hernia (HP:0001537); Axenfeld-Rieger syndrome, glaucoma; hypodontia 1 1 Elena Semina
00032473 - PubMed: Reis 2012 - - - - - - - - - RIEG1 no heart defect; no hearing loss; redundant umbilical skin; Peters anomaly 1 1 Elena Semina
00032474 - PubMed: Reis 2012 - - - - - - - - - RIEG1 no heart defect; no hearing loss; maxillary hypoplasia; no umbilical anomalies; Axenfeld-Rieger syndrome, glaucoma; hypodontia, persistent primary teeth 1 1 Elena Semina
00032475 - PubMed: Reis 2012 - - - - - - - - - RIEG1 no heart defect; no hearing loss; Inguinal hernia; redundant umbilical skin; Axenfeld-Rieger syndrome, cataract, congenital glaucoma, Peters anomaly nystagmus; hypodontia 1 1 Elena Semina
00032476 - PubMed: Reis 2012 - - - - - - - - - RIEG1 no heart defect; no hearing loss; small mouth, nasal bridge anomaly, anteriorly placed anus; redundant umbilical skin; umbilical hernia (HP:0001537); Axenfeld-Rieger syndrome 1 1 Elena Semina
00032477 - PubMed: Reis 2012 - - - - - - - - - RIEG1 no heart defect; no hearing loss; maxillary hypoplasia, nasal bridge anomaly, low thyroid; redundant umbilical skin; Axenfeld-Rieger syndrome, glaucoma; hypodontia, microdontia 1 1 Elena Semina
00032478 - PubMed: Reis 2012 - - - - - - - - - RIEG1 no heart defect; no hearing loss; micrognathia, abnormal ocular position, inguinal hernia, ulcerative colitis, diverticulitis, attention deficit hyperactivity disorder, micropenis, sleep disorder, transient ischemic attack, hypercholesterolinemia; redundant umbilical skin; umbilical hernia (HP:0001537); Axenfeld-Rieger syndrome, myopia (−12; −8), missing eye muscles (L), astigmatism; hypodontia, persistent primary teeth 1 1 Elena Semina
00032479 - PubMed: Reis 2012 - - - - - - - - - RIEG1 ventricular septal defect; hearing loss; mild developmental delay, maxillary hypoplasia, thin upper lip, high arched palate, low-set ears; redundant umbilical skin; Axenfeld-Rieger syndrome, congenital glaucoma, cataract, severe iris hypoplasia/aniridia; natal tooth 1 1 Elena Semina
00032480 - PubMed: Reis 2012 - - - - - - - - - RIEG1 no heart defect; no hearing loss; maxillary hypoplasia, ridged palate; omphalocele (HP:0001539); Axenfeld-Rieger syndrome; hypodontia, microdontia 1 1 Elena Semina
00032481 - PubMed: Reis 2012 - - - - - - - - - RIEG1 no heart defect; no hearing loss;; no umbilical anomalies; Axenfeld-Rieger syndrome, glaucoma, retinal detachment; dental anomaly 1 1 Elena Semina
00032482 - PubMed: Reis 2012 - - - - - - - - - RIEG1 no heart defect; no hearing loss; low hair line, developmental delay, autism, digit anomaly, thin upper lip; Axenfeld-Rieger syndrome, blue sclerae; microdontia 1 1 Elena Semina
00132614 21837767-PatII1 PubMed: Kelberman 2011, Journal: Kelberman 2011 2-generation family, affected father, mother and 2 children F - United Kingdom (Great Britain) - - - - - ? see paper; ..., complex bilateral anterior segment developmental anomalies, corneal cyst 1 4 Daniel Kelberman
00132616 21837767-PatI2 PubMed: Kelberman 2011, Journal: Kelberman 2011 - F - United Kingdom (Great Britain) - - - - - ? see paper; ..., isolated posterior embryotoxon, irides heterochromia 1 1 Johan den Dunnen
00132799 - - - - - Germany - - - - - RIEG - 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00151833 - Hendee et al 2017 (under review) - M - Serbia - - - - - RIEG - 1 1 Elena Semina
00151834 - - - M - Serbia - - - - - RIEG1 - 1 1 Elena Semina
00151835 - - - F - United States - - - - - RIEG1 - 1 1 Elena Semina
00263123 - - - M - - - - - - - - Abnormal eye morphology (HP:0012372); Abnormality of nervous system physiology (HP:0012638); Migraine (HP:0002076); Iris coloboma (HP:0000612) 1 1 Andreas Laner
00269114 - - - F - - - - - - - ? Abnormality of cardiac morphology (HP:0001627); Corneal opacity (HP:0007957); Umbilical hernia (HP:0001537) 1 1 Andreas Laner
00307333 family PubMed: Mechakra 2019 3-generation family, 5 affected (3F, 2M) F;M - France - - - - - ATFB see paper; ..., atrial fibrillation 1 1 Johan den Dunnen
00336009 - PubMed: Sergouniotis 2016 analysis 181 cases - - United Kingdom (Great Britain) - - - - - CTRCT - 1 1 LOVD
00363790 G654 PubMed: Huang 2015 family F - China - - - - - glaucoma see paper; ... 1 1 LOVD
00381548 - - - - - - - - - - - RIEG1 - 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00382922 - - - F - China Chinese - - - - RIEG Iridocorneal adhesions, severe IH, corectopia, polycoria, GL,Dental abnormalities; Craniofacial abnormalities; dental anomailty; ocular abnormality; normal umbilicus 1 4 Youjia Zhang
00382923 - - - F - China Chinese - - - - RIEG PE, iridocorneal adhesions, IH, polycoria, myopia; dental abnormalities; Umbilical anomalies; dental anomailty; ocular abnormality; normal umbilicus 1 1 Youjia Zhang
00382924 - - - M yes China Chinese - - - - RIEG PE, iridocorneal adhesions, IH, irregular pupil, GL, cataract; dental abnormalities; dental anomailty; ocular abnormality; normal umbilicus 1 1 Youjia Zhang
00382925 - - - F no China Chinese - - - - RIEG Iridocorneal adhesions, severe IH, irregular pupil, GL; dental abnormalities; Craniofacial abnormalities; dental anomailty; ocular abnormality; normal umbilicus 1 1 Youjia Zhang
00382926 - - - F yes China Chinese - - - - RIEG Iridocorneal adhesions, IH, corectopia, GL, corneal opacification (OD); dental abnormalities; Craniofacial abnormalities; dental anomailty; ocular abnormality; normal umbilicus 1 1 Youjia Zhang
00382927 - - - M yes China Chinese - - - - RIEG PE, iridocorneal adhesions, IH, corectopia, GL, high myopia, cataract; dental abnormalities; surgery history for umbili; Craniofacial abnormalitiesl hernia; dental anomailty; ocular abnormality; umbilical hernia 1 2 Youjia Zhang
00382928 - - - M yes China Chinese - - - - RIEG PE, IH, corectopia, GL; dental abnormalities; dental anomailty; ocular abnormality; normal umbilicus 1 2 Youjia Zhang
00382929 - - - F yes China Chinese - - - - RIEG PE, iridocorneal adhesions, IH, corectopia, GL, cataract; dental abnormalities; dental anomailty; ocular abnormality; normal umbilicus 1 2 Youjia Zhang
00382930 - - - M - China Chinese - - - - RIEG Iridocorneal adhesions, severe IH, corectopia, irregular pupil, GL; dental abnormalities; Craniofacial abnormalities; dental anomailty; ocular abnormality; normal umbilicus 1 1 Youjia Zhang
00382931 - - - F yes China Chinese - - - - RIEG PE, iridocorneal adhesions, severe IH, corectopia, irregular pupil, GL, corneal opacification, high myopia; Craniofacial abnormalities; no dental anomailty; ocular abnormality; normal umbilicus 1 2 Youjia Zhang
00382932 - - - M yes China Chinese - - - - RIEG PE, iridocorneal adhesions, IH, corectopia, GL, high myopia, cataract; dental abnormalities; Umbilical anomalies; dental anomailty; ocular abnormality; abnormality umbilicus 1 2 Youjia Zhang
00382933 - - - M yes China Chinese - - - - RIEG Iridocorneal adhesions, IH, corectopia, polycoria, GL, high myopia; dental abnormalities; Craniofacial abnormalities; surgery history for umbili;; dental anomailty; ocular abnormality; umbilical hernia 1 1 Youjia Zhang
00382934 - - - M yes China Chinese - - - - RIEG PE, iridocorneal adhesions, IH, polycoria; dental abnormalities; dental anomailty; ocular abnormality; normal umbilicus 1 2 Youjia Zhang
00382935 - - - M yes China - - - - - RIEG PE, iridocorneal adhesions, IH, corectopia, polycoria, ectropion uvea, GL, high myopia; dental abnormalities; kidney stone; dental anomailty; ocular abnormality; normal umbilicus 1 1 Youjia Zhang
00385463 14018019 PubMed: Lenassi 2020 retrospective analysis F - (United Kingdom (Great Britain)) - - - - - retinal disease - 1 1 LOVD
00447931 patient PubMed: Farris 2024 2-generation family, 1 affected, unaffected non-carrier parents F - United States - - - - - RIEG see paper; ..., elevated intraocular pressure, anterior chamber abnormalities, guttata both eyes, diffuse, patchy iris atrophy both eyes, posterior embryotoxon both eyes, corectopia left eye; optic nerve cupping consistent with glaucoma right eye; declining vision right eye greater than left; significant visual field loss related to glaucoma right eye, thinning retinal nerve fiber layer both eyes, right greater than left; significant dental anomalies, oligodontia, microdontia; as child redundant periumbilical skin surgically corrected; non-dysmorphic, normal developmental trajectory, held advanced degree; normal hearing; no congenital heart disease 1 1 Johan den Dunnen
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