All individuals with variants in gene TAB2

56 entries on 1 page. Showing entries 1 - 56.
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     
00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml) 4 1 Yu Sun
00000209 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml) 6 1 Yu Sun
00078598 27426733-Pat17 PubMed: Wade 2016, Journal: Wade 2016 - F - Australia European - - - - FMD1 supraorbital ridges (HP:?), small chin (HP:0000331), hearing loss (HP:0000365), hypertelorism (HP:0000316), downslanting palpebral fissures (HP:0000494), wide nasal bridge (HP:0000431), no cleft palate (-HP:0000175), no bifid uvula (-HP:0000193), no congenital stridor (-HP:0004886), no subglottic stenosis (-HP:0001607), no hydronephrosis (-HP:0000126), scoliosis (HP:0002650), no intellectual disability (-HP:0001249), no keloid (-HP:0010562), no cervical vertebral fusion (-HP:0002949), elbow contractures (HP:0002987), dislocated radial head (HP:0003083), flared metaphyses (HP:0003015), digital and wrist contractures (HP:0001239), under modeled phalanges (HP:?), broad thumbs (HP:0011304), broad fingers (HP:0001500) 1 1 Jamie Zeegers
00180490 - PubMed: Kijlstra 2008 Chinese cohort F;M - China Chinese - - for details see the Uveogene database - Behcet - 1 113 Peizeng Yang
00204775 PatL PubMed: Thienpont 2010 - F - - - 61y - - - ? 61y-deceased; congenital heart defects, left ventricular outflow tract obstruction, subaortic stenosis, residual aortic regurgitation, atrial fibrillation 1 1 LOVD
00204776 PatM PubMed: Thienpont 2010 - M - - - - - - - ? congenital heart defects, bicuspid aortic valve, aortic dilation 1 1 LOVD
00235348 - PubMed: Morlino 2019, PubMed: Ritelli 2018 2-generation family, 3 affected individuals F no Italy white - - - - ? generalized joint hypermobility, facial dysmorphism, abnormal skin texture, short limbs, hearing loss, recurrent otitis media, polyvalvular heart dystrophy, progressive mitral valve disease, dilated cardiomyopathy, cardiac arrhythmias and atrial septum aneurysm 1 3 Lucia Micale
00300268 Pt5521 PubMed: Liu 2020, Journal: Liu 2020 - F no France - 00y - - - CHD, HLHS1 Hypoplastic mitral valve, hypoplastic left ventricle, hypoplastic aorta HP:0004383 1 4 Patrice Bouvagnet
00300269 Pt5519 PubMed: Liu 2020, Journal: Liu 2020 - F no France - >42y - - - ASD Atrial Septal Aneurysm, Mitral Valve Prolaps 1 2 Patrice Bouvagnet
00300270 Pt5518 PubMed: Liu 2020, Journal: Liu 2020 - F no France - >18y - - - ASD Atrial Septal Defect, Mitral Valve Prolaps 1 3 Patrice Bouvagnet
00300271 Pt5519 PubMed: Liu 2020, Journal: Liu 2020 - F no France - >16y - - - ASD1 - 1 3 Patrice Bouvagnet
00320149 - - - F - - - - - - - ? Microcephaly (HP:0000252); Hearing impairment (HP:0000365); Abnormal heart morphology (HP:0001627); Short stature (HP:0004322); Heart block (HP:0012722) 1 1 IMGAG
00372043 PatA1 Journal: Engwerda 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Netherlands - - - - - CHTD small for gestational age unknown (?HP:0001518), Short stature (HP:0004322), no Microcephaly (-HP:0000252), Broad forehead (HP:0000337), Hypertelorism (HP:0000316), no Upslanted palpebral fissure (-HP:0000582), no Downslanted palpebral fissures (-HP:0000494), no Ptosis (-HP:0000508), Ears abnormal position (HP:0000357), no Short neck (-HP:0000470), no Broad neck (-HP:0000475), Cafe-au-lait spot (HP:0000957), Abnormal heart morphology (HP:0001627), Bicuspid aortic valve (HP:0001647), Abnormal mitral valve morphology (HP:0001633), Abnormal tricuspid valve morphology (HP:0001702), Thoracic aortic aneurysm (HP:0012727), Cardiomyopathy (HP:0001638), Joint hypermobility (HP:0001382), Pes planus (HP:0001763), no Pectus excavatum (-HP:0000767), Short palm (HP:0004279), Tapered finger (HP:0001182), Sandal gap (HP:0001852), Hypotonia unknown (?HP:0001252), Hearing impairment unknown (?HP:0000365), no Neurodevelopmental delay (-HP:0012758) 1 1 Aafke Engwerda
00372044 PatB1 Journal: Engwerda 2021 2-generation family, 1 affected, unaffected parents M - Netherlands - - - - - CHTD small for gestational age unknown (?HP:0001518), Short stature (HP:0004322), no Microcephaly (-HP:0000252), Broad forehead (HP:0000337), no Hypertelorism (-HP:0000316), no Upslanted palpebral fissure (-HP:0000582), no Downslanted palpebral fissures (-HP:0000494), Ptosis (HP:0000508), no Ears abnormal position (-HP:0000357), no Short neck (-HP:0000470), no Broad neck (-HP:0000475), Thick lower lip vermilion (HP:0000179), Long philtrum (HP:0000343), Abnormal heart morphology (HP:0001627), Atrial septal defect (HP:0001631), Ventricular septal defect (HP:0001629), Cardiomyopathy unknown (?HP:0001638), Joint hypermobility (HP:0001382), Pes planus (HP:0001763), Pectus excavatum (HP:0000767), Cryptorchidism (HP:0000028), Feeding difficulties (HP:0011968), Hypermetropia (HP:0000540), Hearing impairment unknown (?HP:0000365), Neurodevelopmental delay (HP:0012758) 1 1 Aafke Engwerda
00372045 PatC1 Journal: Engwerda 2021 2-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents F - Netherlands - - - - - CHTD broad forehead (HP:0000337), no Hypertelorism (-HP:0000316), no Upslanted palpebral fissure (-HP:0000582), Downslanted palpebral fissures (HP:0000494), Ptosis (HP:0000508), Ears abnormal position (HP:0000357), no Short neck (-HP:0000470), no Broad neck (-HP:0000475), Abnormal heart morphology (HP:0001627), Mitral regurgitation (HP:0001653), Mitral stenosis (HP:0001718), Hip dysplasia (HP:0001385), no Neurodevelopmental delay (-HP:0012758) 1 3 Aafke Engwerda
00372046 PatC2 Journal: Engwerda 2021 son M - Netherlands - - - - - CHTD not small for gestational age (-HP:0001518), Short stature (HP:0004322), no Microcephaly (-HP:0000252), Broad forehead (HP:0000337), Hypertelorism (HP:0000316), no Upslanted palpebral fissure (-HP:0000582), no Downslanted palpebral fissures (-HP:0000494), Ptosis (HP:0000508), Ears abnormal position (HP:0000357), no Short neck (-HP:0000470), no Broad neck (-HP:0000475), High palate (HP:0000218), Wide mouth (HP:0000154), Abnormal heart morphology (HP:0001627), Abnormal mitral valve morphology (HP:0001633), Mitral regurgitation (HP:0001653), Mitral valve prolapse (HP:0001634), Thoracic aortic aneurysm (HP:0012727), Joint hypermobility (HP:0001382), Pes planus (HP:0001763), Pectus excavatum (HP:0000767), Hip dysplasia (HP:0001385), Cryptorchidism (HP:0000028), Neurodevelopmental delay (HP:0012758) 1 1 Aafke Engwerda
00372047 PatC3 Journal: Engwerda 2021 daughter F - Netherlands - - - - - CHTD not small for gestational age (-HP:0001518), Short stature (HP:0004322), Disproportionate short-limb short stature (HP:0008873), no Microcephaly (-HP:0000252), Broad forehead (HP:0000337), Hypertelorism (HP:0000316), no Upslanted palpebral fissure (-HP:0000582), no Downslanted palpebral fissures (-HP:0000494), Ptosis (HP:0000508), Ears abnormal position (HP:0000357), Short neck (HP:0000470), Broad neck (HP:0000475), High palate (HP:0000218), Abnormal heart morphology (HP:0001627), Bicuspid aortic valve (HP:0001647), Abnormal mitral valve morphology (HP:0001633), Mitral regurgitation (HP:0001653), Mitral valve prolapse (HP:0001634), Thoracic aortic aneurysm (HP:0012727), no Joint hypermobility (-HP:0001382), Pes planus (HP:0001763), Pectus excavatum (HP:0000767), Hypotonia (HP:0001252), no Neurodevelopmental delay (-HP:0012758) 1 1 Aafke Engwerda
00372048 PatD1 Journal: Engwerda 2021 family, 6 affected (4F, 2M), unaffected heterozygous carrier parents F - Netherlands - 46y - - - CHTD 46y-deceased (cause unknown); small for gestational age unknown (?HP:0001518), Short stature (HP:0004322), Broad forehead (HP:0000337), Hypertelorism unknown (?HP:0000316), no Upslanted palpebral fissure (-HP:0000582), no Downslanted palpebral fissures (-HP:0000494), Ptosis (HP:0000508), Ears abnormal position unknown (?HP:0000357), Short neck unknown (?HP:0000470), Broad neck unknown (?HP:0000475), Abnormal heart morphology (HP:0001627), Aortic regurgitation (HP:0001659), Bicuspid aortic valve (HP:0001647), Pulmonic stenosis (HP:0001642), Arrhythmia (HP:0011675), Atrial flutter (HP:0004749), Hearing impairment (HP:0000365), Neurodevelopmental delay unknown (?HP:0012758) 1 6 Aafke Engwerda
00372049 PatD2 Journal: Engwerda 2021 - M - Netherlands - - - - - CHTD small for gestational age unknown (?HP:0001518), no Short stature (-HP:0004322), no Microcephaly (-HP:0000252), Broad forehead (HP:0000337), no Hypertelorism (-HP:0000316), no Upslanted palpebral fissure (-HP:0000582), Downslanted palpebral fissures (HP:0000494), Ptosis (HP:0000508), Ears abnormal position (HP:0000357), no Short neck (-HP:0000470), no Broad neck (-HP:0000475), High palate (HP:0000218), Micrognathia (HP:0000347), no Abnormal heart morphology (-HP:0001627), no Cardiomyopathy (-HP:0001638), Joint hypermobility (HP:0001382), Pes planus (HP:0001763), Hearing impairment (HP:0000365), no Neurodevelopmental delay (-HP:0012758) 1 1 Aafke Engwerda
00372050 PatD3 Journal: Engwerda 2021 - F - Netherlands - - - - - CHTD small for gestational age (HP:0001518), Short stature (HP:0004322), no Microcephaly (-HP:0000252), Broad forehead (HP:0000337), no Hypertelorism (-HP:0000316), no Upslanted palpebral fissure (-HP:0000582), Downslanted palpebral fissures (HP:0000494), Ptosis (HP:0000508), Ears abnormal position (HP:0000357), Short neck unknown (?HP:0000470), Broad neck unknown (?HP:0000475), High palate (HP:0000218), Micrognathia (HP:0000347), Abnormal heart morphology (HP:0001627), Atrial septal defect (HP:0001631), Mitral valve prolapse (HP:0001634), Tricuspid valve prolapse (HP:0001704), Cardiomyopathy (HP:0001638), Arrhythmia (HP:0011675), Supraventricular tachycardia (HP:0004755), Joint hypermobility (HP:0001382), Pes planus (HP:0001763), Swan neck-like deformities of the fingers (HP:0006150), Hearing impairment (HP:0000365), no Neurodevelopmental delay (-HP:0012758) 1 1 Aafke Engwerda
00372051 PatD4 Journal: Engwerda 2021 - F - Netherlands - - - - - CHTD small for gestational age (HP:0001518), Disproportionate short-limb short stature (HP:0008873), Broad forehead (HP:0000337), no Hypertelorism (-HP:0000316), Upslanted palpebral fissure (HP:0000582), no Downslanted palpebral fissures (-HP:0000494), Ptosis (HP:0000508), Ears abnormal position (HP:0000357), Short neck unknown (?HP:0000470), Broad neck unknown (?HP:0000475), High palate (HP:0000218), Micrognathia (HP:0000347), Abnormal heart morphology (HP:0001627), Pulmonic stenosis (HP:0001642), Joint hypermobility (HP:0001382), Pes planus (HP:0001763), Pectus excavatum (HP:0000767), Umbilical hernia (HP:0001537), no Neurodevelopmental delay (-HP:0012758) 1 1 Aafke Engwerda
00372052 PatD5 Journal: Engwerda 2021 - F - Netherlands - - - - - CHTD small for gestational age (HP:0001518), Short stature (HP:0004322), Disproportionate short-limb short stature (HP:0008873), Broad forehead (HP:0000337), Hypertelorism (HP:0000316), Upslanted palpebral fissure (HP:0000582), no Downslanted palpebral fissures (-HP:0000494), no Ptosis (-HP:0000508), no Ears abnormal position (-HP:0000357), Short neck unknown (?HP:0000470), Broad neck unknown (?HP:0000475), Micrognathia (HP:0000347), Abnormal heart morphology (HP:0001627), Aortic regurgitation (HP:0001659), Mitral regurgitation (HP:0001653), Mitral valve prolapse (HP:0001634), Cardiomyopathy (HP:0001638), Joint hypermobility (HP:0001382), Pes planus (HP:0001763), Pectus excavatum (HP:0000767), no Hypotonia (-HP:0001252), no Neurodevelopmental delay (-HP:0012758) 1 1 Aafke Engwerda
00372053 PatD6 Journal: Engwerda 2021 - M - Netherlands - - - - - CHTD small for gestational age (HP:0001518), Short stature (HP:0004322), Broad forehead (HP:0000337), no Hypertelorism (-HP:0000316), no Upslanted palpebral fissure (-HP:0000582), Downslanted palpebral fissures (HP:0000494), Ptosis (HP:0000508), no Ears abnormal position (-HP:0000357), Short neck unknown (?HP:0000470), Broad neck unknown (?HP:0000475), Abnormal heart morphology (HP:0001627), Aortic regurgitation (HP:0001659), Mitral regurgitation (HP:0001653), Tricuspid regurgitation (HP:0005180), Tricuspid valve prolapse (HP:0001704), Cardiomyopathy (HP:0001638), Joint hypermobility (HP:0001382), Pes planus (HP:0001763), Pectus excavatum (HP:0000767), Umbilical hernia (HP:0001537), Inguinal hernia (HP:0000023), Neurodevelopmental delay (HP:0012758) 1 1 Aafke Engwerda
00372054 PatE1 Journal: Engwerda 2021 2-generation family, affected mother/son, unaffected heterozygous carrier parents F - Netherlands - - - - - CHTD not small for gestational age (-HP:0001518), Short stature (HP:0004322), no Microcephaly (-HP:0000252), no Broad forehead (-HP:0000337), no Hypertelorism (-HP:0000316), no Upslanted palpebral fissure (-HP:0000582), Downslanted palpebral fissures (HP:0000494), Ptosis (HP:0000508), no Ears abnormal position (-HP:0000357), Short neck (HP:0000470), Broad neck (HP:0000475), Micrognathia (HP:0000347), Abnormal heart morphology (HP:0001627), Aortic regurgitation (HP:0001659), Abnormal mitral valve morphology (HP:0001633), Mitral regurgitation (HP:0001653), Mitral valve prolapse (HP:0001634), Joint hypermobility (HP:0001382), Brachydactyly (HP:0001156), Lunate-triquetral fusion (HP:0004251), Abnormality of the os naviculare pedis (HP:0100339), Short toe (HP:0001831), Broad hallux (HP:0010055), Hypotonia (HP:0001252), Hearing impairment (HP:0000365), no Neurodevelopmental delay (-HP:0012758) 1 2 Aafke Engwerda
00372055 PatE2 Journal: Engwerda 2021 son M - Netherlands - - - - - CHTD not small for gestational age (-HP:0001518), Short stature (HP:0004322), Disproportionate short-limb short stature (HP:0008873), no Microcephaly (-HP:0000252), Broad forehead (HP:0000337), no Hypertelorism (-HP:0000316), no Upslanted palpebral fissure (-HP:0000582), no Downslanted palpebral fissures (-HP:0000494), Ptosis (HP:0000508), Ears abnormal position (HP:0000357), Short neck (HP:0000470), Broad neck (HP:0000475), Abnormal heart morphology (HP:0001627), Abnormal mitral valve morphology (HP:0001633), Mitral valve prolapse (HP:0001634), Tricuspid regurgitation (HP:0005180), Tricuspid valve prolapse (HP:0001704), Joint hypermobility (HP:0001382), Pes planus (HP:0001763), Broad foot (HP:0001769), Hypotonia unknown (?HP:0001252), Hearing impairment (HP:0000365), no Neurodevelopmental delay (-HP:0012758) 1 1 Aafke Engwerda
00372056 PatF1 Journal: Engwerda 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Netherlands - - - - - CHTD not small for gestational age (-HP:0001518), no Short stature (-HP:0004322), no Microcephaly (-HP:0000252), Broad forehead (HP:0000337), no Hypertelorism (-HP:0000316), no Upslanted palpebral fissure (-HP:0000582), no Downslanted palpebral fissures (-HP:0000494), no Ptosis (-HP:0000508), no Ears abnormal position (-HP:0000357), no Short neck (-HP:0000470), no Broad neck (-HP:0000475), Synophrys (HP:0000664), Abnormal heart morphology unknown (?HP:0001627), Cardiomyopathy unknown (?HP:0001638), Arrhythmia unknown (?HP:0011675), Joint hypermobility (HP:0001382), Pes planus unknown (?HP:0001763), Pectus excavatum unknown (?HP:0000767), Feeding difficulties (HP:0011968), no Hypotonia (-HP:0001252), no Hearing impairment (-HP:0000365), Neurodevelopmental delay (HP:0012758) 1 1 Aafke Engwerda
00377278 P I8 - - F no (Switzerland) central european, white >05y - - - CHTD2 - 1 1 Cecilia Giunta
00377280 P I9 - - F no Switzerland central european, white >13y - - - CHTD2 cardiovascular anomalies, recurrent facial dysmorphisms, generalized joint hypermobility and soft/velvetyhyperextensible skin 1 1 Cecilia Giunta
00377282 - - - F no - - - - - - cutis laxa - 1 1 Bert Callewaert
00377292 I2 - - M no Italy - - - - - CHD Facial features (long/round face, wide forehead, maxillary hypoplasia); Cardiovascular Features (Cardiomyopathy, ASD/PFO); Musculoskeletal features; Skin features. 1 1 Lucia Micale
00377293 IIII - - F no Italy - - - - - CHD Facial features; Cardiovascular Features; Musculoskeletal features; Skin features. 1 1 Lucia Micale
00377296 - - - M no Belgium whitet - - - - CHTD2 cardiomyopathy,dilated aortic dissection type B inguinal hernia hypospadias multicystic kindney gastro-intestinal malrotation conductive hearing loss short stature facial dysmorphism (ptosis, hypotelorism) prostate cancer 1 1 Jeroen Breckpot
00377300 I10 - - - - Italy - - - - - CHD Facial features; Cardiovascular Features; Musculoskeletal features; Skin features. 1 1 Lucia Micale
00377319 patient - - F no Finland - - - - - CHTD - 1 1 Maria K Haanpää
00385427 FamPatIII1 PubMed: Weiss 2015 3-generation family, 3 affected (3F) F - United States - - - - - CHTD see paper; ..., tetralogy of Fallot, pulmonary atresia, myxomatous and prolapsed mitral and tricuspid valves, supraventricular tachycardia 1 3 Johan den Dunnen
00385428 FamPatII3 PubMed: Weiss 2015 mother F - United States - - - - - CHTD see paper; ..., icuspid aortic valve, ventricular septal defect, myxomatous and prolapsed mitral, and tricuspid valves 1 1 Johan den Dunnen
00385429 FamPatI1 PubMed: Weiss 2015 grandmother F - United States - - - - - CHTD see paper; ..., mitral valve regurgitation, myxomatous and prolapsed mitral and tricuspid valves, SVT, atrial fibrillation 1 1 Johan den Dunnen
00385431 FamA PubMed: Thienpont 2010 4-generation family, 4 affected (2F, 2M), unaffected heterozygous carrier parents/relatives - - - - - - - - CHTD, NS hypoplastic aortic arch, coarctation aorta, ventricular septal defect; mild-moderate developmental dealy; intra‐uterine growth retardation; post‐natal growth retardation; normal central nervous system; normal oral cavity; strabism; hypospadias, epicantic folds, micrognathia, small ears 1 1 Johan den Dunnen
00385432 FamBPatI1 PubMed: Thienpont 2010 - - - - - - - - - CHTD tricuspid and pulmonic valve dysplasia, mitral valve prolapse, premature ventricular contractions; mild developmental dealy; no microcephaly; intra‐uterine growth retardation; post‐natal growth retardation; normal central nervous system; normal oral cavity; astigmatism; frontal bossing, bitemporal narrowing, palpebral fissures short and slant up, hooded eyelids, sparse eyelashes, infraorbital folds, anteverted nares, thin upper lip, fetal pads (hands), low set dysplastic ears 1 1 Johan den Dunnen
00385433 FamCPatI2 PubMed: Thienpont 2010 - - - - - - - - - CHTD atrial septal defect typeII; mild developmental dealy; no microcephaly; intra‐uterine growth retardation; post‐natal growth retardation; normal oral cavity; retinal pigment changes, minimal optic nerve hypoplasia; sacral dimple, narrow thorax, frontal bossing, bitemporal narrowing, palpebral fissures short and slant up, sparse eyelashes, infraorbital folds, anteverted nares, thin upper lip, flat long philtrum, low posterior hair line, low set dysplastic ears 1 1 Johan den Dunnen
00385434 FamDPatII PubMed: Thienpont 2010 - - - - - - - - - CHTD tricuspid insufficiency, atrial septal defect, patent ductus arteriosus; mild developmental dealy; no microcephaly; no intra‐uterine growth retardation; post‐natal growth retardation; normal central nervous system; high palate; normal eyes; no hearing loss; facial asymmetry, short palpebral fissures, medial flare eyebrows, anteverted nares, thin upper lip, long and smooth philtrum, sandal gap, cupshaped left ear 1 1 Johan den Dunnen
00385435 FamEPatIII1 PubMed: Thienpont 2010 - - - - - - - - - CHTD ventricular septal defect; mild developmental dealy; no intra‐uterine growth retardation; post‐natal growth retardation; normal oral cavity; short nose, full cheeks, smooth philtrum, thin upper lip, almond eyes, low set protruding ears, dyspl astic left ear 1 1 Johan den Dunnen
00385436 FamFp PubMed: Thienpont 2010 2-generation family, affected patient/mother - - - - - - - - CHTD centrovalvular insufficiency of aortic and pulmonic valve; no developmental dealy; microcephaly; no intra‐uterine growth retardation; post‐natal growth retardation; phimosis; high forehead; almond‐shaped, upslanting palpebral fissures; midface hypoplasia; micrognathia; large, normally placed ears 1 2 Johan den Dunnen
00385437 FamFm PubMed: Thienpont 2010 mother - - - - - - - - CHTD mild aortic and mitral valve stenosis, sinus tachycardia; no developmental dealy; post‐natal growth retardation; facial features similar to her son 1 1 Johan den Dunnen
00385438 FamGPatIV PubMed: Thienpont 2010 - - - - - - - - - ? no cardiac defect; normal central nervous system; cleft lip, cleft palate 1 1 Johan den Dunnen
00385439 FamHPatV3 PubMed: Thienpont 2010 - - - - - - - - - ? no cardiac defect; developmental dealy; microcephaly; no intra‐uterine growth retardation; post‐natal growth retardation; agenesis corpus callosum; high palate, bifid uvula; mild conductive hearing loss; midface hypoplasia, clinodactyly 5, plagiocephephaly, low set ears, posteriorly roated ears 1 1 Johan den Dunnen
00385440 FamIPatI3 PubMed: Thienpont 2010 - - - - - - - - - ? no cardiac defect; no developmental dealy; no microcephaly; intra‐uterine growth retardation; post‐natal growth retardation; normal central nervous system; normal oral cavity; no hearing loss 1 1 Johan den Dunnen
00385441 FamJPatVI PubMed: Thienpont 2010 - - - - - - - - - ? no cardiac defect; mild-moderate developmental dealy; microcephaly; no intra‐uterine growth retardation; post‐natal growth retardation; agenesis corpus callosum; cleft and high palate; nystagmus; dolichocephaly, anteriorly placed anus, low set ears 1 1 Johan den Dunnen
00385442 FamKPatV1 PubMed: Thienpont 2010 - - - - - - - - - ? no cardiac defect; developmental dealy; microcephaly; no intra‐uterine growth retardation; no post‐natal growth retardation; normal oral cavity; normal eyes; sensorineural hearing loss; long philtrum, micrognatia, palpebral fissures slant down, epicanthus, low set ears 1 1 Johan den Dunnen
00385443 FamNPatIII2 PubMed: Thienpont 2010 4-generation family, 3 affected (mother, daughter/son); son M - - - - - - - CHTD aortic stenosis, atrial fibrillation, required an aortic valve replacement 1 3 Johan den Dunnen
00385451 patient PubMed: Ackerman 2016 2-generation family, 1 affected, unaffected non-carrier parents M no United States - - - - - CHTD see paper; ..., mild pulmonary valve stenosis, mild aortic root dilatation, atrial septal defect, ventricular septal defect, patent ductus arteriosus (closed surgically); polyvalvular syndrome, involvement both semilunar and both atrioventricular valves; hypotonia, myopia, soft pale skin, joint hypermobility, mild facial dysmorphism 1 1 Johan den Dunnen
00385549 Fam1Pat1 PubMed: Ritelli 2018 3-generation family, 3 affected (2F, M) F - Italy - - - - - CHTD facial dysmorphism; hearing loss/recurrent otitis; heart anomalies; mitral valve dystrophy/insufficiency; tricuspid valve dystrophy/insufficiency.; aortic valve dystrophy/insufficiency; atrial septum aneurysm; dilated cardiomyopathy; arrhythmias; other soft connective tissues; abnormal skin texture; joint hypermobility; habitus/orthopedics; short limbs; lumbar/sacral anomalies; joint contractures/limitations 1 3 Johan den Dunnen
00385550 Fam1Pat2 PubMed: Ritelli 2018 - F - Italy - - - - - CHTD facial dysmorphism; hearing loss/recurrent otitis; heart anomalies; mitral valve dystrophy/insufficiency; tricuspid valve dystrophy/insufficiency.; bicuspid aortic valve; myocardial non-compaction; other soft connective tissues; abnormal skin texture; joint hypermobility; habitus/orthopedics; short stature; small extremities; short limbs; lumbar/sacral anomalies 1 1 Johan den Dunnen
00385551 Fam1Pat3 PubMed: Ritelli 2018 - M - Italy - - - - - CHTD facial dysmorphism; hearing loss/recurrent otitis; heart anomalies; mitral valve dystrophy/insufficiency; aortic valve dystrophy/insufficiency; aortic root dilatation; dilated cardiomyopathy; arrhythmias; other soft connective tissues; abnormal skin texture; mild joint hypermobility; habitus/orthopedics; short stature; small extremities; short limbs; joint contractures/limitations 1 1 Johan den Dunnen
00385552 Fam2Pat4 PubMed: Ritelli 2018 - F - Italy - - - - - CHTD facial dysmorphism; hearing loss/recurrent otitis; heart anomalies; mitral valve dystrophy/insufficiency; tricuspid valve dystrophy/insufficiency.; aortic valve dystrophy/insufficiency; atrial septum aneurysm; arrhythmias; other soft connective tissues; abnormal skin texture; joint hypermobility; habitus/orthopedics; short stature; short limbs; neurinoma; palmoplantar keratoderma 1 1 Johan den Dunnen
00385648 FamPatII5 PubMed: Chen 2020 3-generation family, 8 affected (6F, M, fetus) F - China - - - - - CHTD see paper; ..., mild mitral and tricuspid regurgitation, mild aortic valve stenosis with aortic regurgitation 1 8 Johan den Dunnen
Legend   How to query  

Screenscraping/webscraping (downloading large amounts of data using scripts) 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.