Disease #00719 (TBS (Townes-Brocks syndrome (TBS)))

Official abbreviation TBS
Name Townes-Brocks syndrome (TBS)
OMIM ID -
Inheritance -
Individuals reported having this disease 106
Phenotype entries for this disease 106
Associated with 2 genes DACT1, SALL1
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

106 entries on 2 pages. Showing entries 1 - 100.
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00441464 FamPatIII3 PubMed: Yang 2021 affected daughter F - China China-S;Wuling Mountains - - - - TBS congenital anal atresia, rectal perineal fistula, ventricular septal defect, patent ductus arteriosus, pulmonary hypertension, finger deformities - SALL1 1 2 Johan den Dunnen
00441465 FamPatII4 PubMed: Yang 2021 father M - China China-S;Wuling Mountains - - - - TBS external ear deformity, deafness, toe deformities, pulmonary hypertension, normal anus - SALL1 1 1 Johan den Dunnen
00472497 - - - M - - (not applicable) white - - - - TBS HP:0001629, HP:0001653, HP:0001655, HP:0002023, HP:0003244, HP:0004871, HP:0005180, HP:0008551, HP:0009942, HP:0030319, HP:0001627 - SALL1 1 1 Marketa Wayhelova
00472498 - - - M - - (not applicable) white - - - - TBS HP:0000083, HP:0012732, HP:0009942 - SALL1 1 1 Marketa Wayhelova
00472513 PatVMFS PubMed: Liberalesso 2017 2-generation family, 1 affected, unaffected parents M - Brazil - - - - - TBS see paper; ..., birth vaginal delivery 38.5w, weight 2.735kg, length 48cm, OFC 34.5cm, anal atresia (2d-corrected by posterior sagittal anorretoplasty); developmental delay, speech delay, hyperactive, aggressive behavior, short stature, low anterior hairline, left microtia, agenesis helix, bilateral preauricular tags, low set ears, long eyelashes, epicanthus, deviated nose, downward pointing tip, short neck SALL1 SALL1 1 1 Johan den Dunnen
00472514 Fam1 PubMed: Kohlhase 1998 2-generation family, affected mother/son/duaghter F;M - Germany - - - - - TBS - SALL1 SALL1 1 3 Johan den Dunnen
00472515 Fam2PatII1 PubMed: Kohlhase 1998 2-generation family, 1 affected, unaffected parents M - Germany - - - - - TBS - SALL1 SALL1 1 1 Johan den Dunnen
00472516 Fam1Pat1 PubMed: Kohlhase 1999 2-generation family, 1 affected, unaffected parents M - - - - - - - TBS imperforate anus, fistula; preaxial polydactyly, triphalangeal thumbs; dysplastic ears; borderline small kidneys; atrial septum defect SALL1 SALL1 1 1 Johan den Dunnen
00472517 Fam2Pat1 PubMed: Kohlhase 1999 2-generation family, 3 affected, unaffected parents F - - - - - - - TBS imperforate anus; preaxial polydactyly, triphalangeal thumbs; dysplastic ears SALL1 SALL1 1 3 Johan den Dunnen
00472518 Fam2Pat2 PubMed: Kohlhase 1999 relative M - - - - - - - TBS imperforate anus, fistula; preaxial polydactyly, triphalangeal thumbs; dysplastic ears SALL1 SALL1 1 1 Johan den Dunnen
00472519 Fam2Pat3 PubMed: Kohlhase 1999 relative F - - - - - - - TBS imperforate anus, fistula; preaxial polydactyly, triphalangeal thumbs; dysplastic ears SALL1 SALL1 1 1 Johan den Dunnen
00472520 Fam3Pat1 PubMed: Kohlhase 1999 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - TBS imperforate anus, fistula; preaxial polydactyly; dysplastic ears SALL1 SALL1 1 1 Johan den Dunnen
00472521 Fam4Pat1 PubMed: Kohlhase 1999 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - TBS imperforate anus; triphalangeal thumbs; dysplastic ears SALL1 SALL1 1 1 Johan den Dunnen
00472522 Fam5Pat1 PubMed: Kohlhase 1999 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - TBS “Bucket handle”; triphalangeal thumbs; dysplastic ears SALL1 SALL1 1 1 Johan den Dunnen
00472523 Fam6Pat1 PubMed: Kohlhase 1999 2-generation family, 1 affected, unaffected parents F - - - - - - - TBS imperforate anus; partial preaxial polydactyly, misplaced thumbs; dysplastic ears SALL1 SALL1 1 1 Johan den Dunnen
00472524 Fam7Pat1 PubMed: Kohlhase 1999 2-generation family, 1 affected, unaffected mother (somatic mosaicism) M - - - - - - - TBS imperforate anus; preaxial polydactyly; dysplastic ears SALL1 SALL1 1 2 Johan den Dunnen
00472525 Fam7Pat2 PubMed: Kohlhase 1999 mother F - - - - - - - TBS - SALL1 SALL1 1 1 Johan den Dunnen
00472526 Fam8Pat1 PubMed: Kohlhase 1999 3-generation family, affected father/son, unaffected non-carrier grandparents M - - - - - - - TBS preaxial polydactyly, triphalangeal thumbs, syndactyly III-IV; sensorineural hearing loss; bilateral hypoplastic kidneys, reduced clearance; syndactyly III-IV; hallux vagus; SALL1 SALL1 1 2 Johan den Dunnen
00472527 Fam8Pat2 PubMed: Kohlhase 1999 son M - - - - - - - TBS imperforate anus, fistula; preaxial polydactyly, triphalangeal thumbs; dysplastic ears SALL1 SALL1 1 1 Johan den Dunnen
00472528 Fam9Pat1 PubMed: Kohlhase 1999 2-generation family, 1 affected, unaffected parents M - - - - - - - TBS misplaced fingerlike thumbs; dysplastic ears; unilateral agenesis kidneys, reduced clearance SALL1 SALL1 1 1 Johan den Dunnen
00472529 Fam10Pat1 PubMed: Kohlhase 1999 4-generation family, 9 affected, proband F - - - - - - - TBS medially rotated thumbs; sensorineural hearing loss; proteinuria; pes planus; caridac murmur; SALL1 SALL1 1 9 Johan den Dunnen
00472530 Fam10Pat2 PubMed: Kohlhase 1999 mother F - - - - - - - TBS imperforate anus, fistula; elongated proximal phalanges; dysplastic ears SALL1 SALL1 1 1 Johan den Dunnen
00472531 Fam10Pat3 PubMed: Kohlhase 1999 maternal cousin M - - - - - - - TBS imperforate anus, fistula; dysplastic ears SALL1 SALL1 1 1 Johan den Dunnen
00472532 Fam11Pat1 PubMed: Kohlhase 1999 2-generation family, 1 affected, unaffected parents F - - - - - - - TBS anteriorly placed anus; dysplastic ears SALL1 SALL1 1 1 Johan den Dunnen
00472536 TB1 PubMed: Marlin 1999 2-generation family, affected son/mother M - Reunion - - - - - TBS imperforate anus; bifid thumbs; ears preauricular tags; mild sensorineural hearing loss; bilateral renal hypoplasia; persistent ductus arteriosus; foot malformations, abnormal toes SALL1 SALL1 1 2 Johan den Dunnen
00472537 TB2 PubMed: Marlin 1999 2-generation family, affected son/father M - Spain - - - - - TBS imperforate anus; triphalangeal thumbs; ears preauricular tags; severe mixed hearing loss; normal renal ultrasonography; bifid toes SALL1 SALL1 1 2 Johan den Dunnen
00472538 TB3 PubMed: Marlin 1999 3-generation family, affected daughter/mother/maternal aunt F - France - - - - - TBS imperforate anus, perineal fistula; triphalangeal thumbs; ears microtia; moderatesensorineural hearing loss; normal renal ultrasonography; foot malformation; arachnodactyly SALL1 SALL1 1 3 Johan den Dunnen
00472539 TB4 PubMed: Marlin 1999 2-generation family, several affected M - France - - - - - TBS stenosis, antepositioned anus; broad thumbs; ears microtia, low set ears SALL1 SALL1 1 1 Johan den Dunnen
00472540 TB5 PubMed: Marlin 1999 3-generation family, several affected M - France - - - - - TBS imperforate anus; bifid thumbs; ears preauricular tags, abnormal helix, low set ears; unilateral renal agenesis; metacarpal anomalies; growth delay; hand syndactylies SALL1 SALL1 1 1 Johan den Dunnen
00472541 TB6 PubMed: Marlin 1999 sporadic patient - - Portugal - - - - - TBS imperforate anus, perineal fistula; hexadactyly, triphalangeal thumbs; satyr ears, preauricular tags; mild mixed hearing loss; normal renal ultrasonography; uterovaginal hypoplasia; ventricular septal defect; hand syndactylies SALL1 SALL1 1 1 Johan den Dunnen
00472542 TB7 PubMed: Marlin 1999 sporadic patient - - Italy - - - - - TBS imperforate anus, perineal fistula; hexadactyly, triphalangeal thumbs; external auditory atresia, ears microtia, ears preauricular tags/pits; profound sensorineural hearing loss; bilateral renal hypoplasia SALL1 SALL1 1 1 Johan den Dunnen
00472543 TB8 PubMed: Marlin 1999 sporadic patient - - France - - - - - TBS imperforate anus; hexadactyly, triphalangeal thumbs; external auditory atresia, ears microtia; profound mixed hearing loss; renal failure; foot malformations; retinal maculopathy; angioedema SALL1 SALL1 1 1 Johan den Dunnen
00472544 TB9 PubMed: Marlin 1999 sporadic patient - - Reunion - - - - - TBS vulvar anus; hexadactyly thumbs; normal ears; no hearing loss; normal renal ultrasonography SALL1 SALL1 1 1 Johan den Dunnen
00472545 TB10 PubMed: Marlin 1999 sporadic patient - - France - - - - - TBS imperforate anus; triphalangeal thumbs; normal ears; no hearing loss; normal renal ultrasonography; pubertal delay SALL1 - - 1 Johan den Dunnen
00472546 TB11 PubMed: Marlin 1999 sporadic patient - - France - - - - - TBS imperforate anus; normal thumbs; external ear aplasia; mixed hearing loss; normal renal ultrasonography; hand/foot syndactylies SALL1 - - 1 Johan den Dunnen
00472547 patient;TB12 PubMed: Serville 1993, PubMed: Marlin 1999 sporadic patient - - France - - - - - TBS imperforate anus; triphalangeal thumbs; ears preauricular tags, overfolded helix; no hearing loss; normal renal ultrasonography SALL1 SALL1 4 1 Johan den Dunnen
00472555 family PubMed: Surka 2001 4-generation family, 7 affected (5F, 2M) F;M - United States - - - - - TBS see paper; ... SALL1 SALL1 1 7 Johan den Dunnen
00472556 family PubMed: Albrecht 2004 2-generation family, affected father/2 sons (3M) M no Germany - - - - - TBS see paper; ... SALL1 SALL1 1 3 Johan den Dunnen
00472558 OX3335 PubMed: Furniss 2007 - M - United Kingdom (Great Britain) - - - - - TBS see paper; ..., hands preaxial polydactyly, normal feet; imperforate anus, rectal atresia, hypospadias, ears overfolded helices SALL1 SALL1 1 1 Johan den Dunnen
00472559 OX2948 PubMed: Furniss 2007 patient F - United Kingdom (Great Britain) - - - - - TBS see paper; ... hands preaxial polydactyly, triphalangeal thumb, normal feet; SALL1 SALL1 1 1 Johan den Dunnen
00472563 Pat1 PubMed: Botzenhart 2007 patient F - - - - - - - TBS imperforate anus, anteposition anus; duplication left thumb, bifid tragus with bilateral preauricular tags, constipation, normal development,a decreased creatinine clearance, impaired renal function; no urogenital abnormalities SALL1 SALL1 1 1 Johan den Dunnen
00472564 Pat2 PubMed: Botzenhart 2007 patient F - - - - - - - TBS imperforate low anterior positioned anus (transposition anoplasty); left preauricular tag, left preauricular pit, small squared left helix; 11m-slight facial asymmetry; deep sacral dimple; left triphalangeal bifid thumb, single proximal phalanx, right trifid thumb, duplicated proximal phalanx; carpal bones/radius/ulna normal bilaterally; 1y-surgery remove the radial duplicate thumb, excision proximal interphalangeal joint; postnatal left renal agenesis, normal appearance right kidney, normal adrenals, normal uterus, normal ovaries, normal bladder; impaired renal function; urogenital abnormalities SALL1 SALL1 1 1 Johan den Dunnen
00472565 Pat3 PubMed: Botzenhart 2007 patient F - - - - - - - TBS imperforate anus; low set ears, overfolded superior helices; bilateral preauricular tags; bilateral triphalangeal thumbs, hypoplastic thenar eminences; 8m-normal growth, normal development; left ear hearing; normal renal function; no urogenital abnormalities SALL1 SALL1 1 1 Johan den Dunnen
00472566 Pat4 PubMed: Botzenhart 2007 patient M - - - - - - - TBS imperforate anus, rectal atresia; severe hypospadias; bilateral preaxial polydactyly, right sided triphalangeal thumb, left sided bifid thumb; dysplastic ears, overfolded helices; 4d-ilateral small kidneys., 11y-idney sizes 0 h ; nofoot malformations ;thirteen ribs ight side.; 1y-normal dvelopmenta; normal renal function; urogenital abnormalities SALL1 SALL1 1 1 Johan den Dunnen
00472567 Pat5 PubMed: Botzenhart 2007 patient M - - - - - - - TBS bilateral duplicated triphalangeal thumbs; dysplastic ears; bilateral 3/4 cutaneous syndactyly toes; anal stenosis (anoplasty surgery; 4y-corrected right-sided strabismus; normal hearing; speech therapy, speech delay; normal renal function; no urogenital abnormalities SALL1 SALL1 1 1 Johan den Dunnen
00472568 Fam6Pat1 PubMed: Botzenhart 2007 2-generation family, affected son/mother M - - - - - - - TBS left duplicated thumb; three preauricular skin tags; sensorineural hearing loss; dermoid cys left eye; left vesicoureteral reflux with left ureter reimplantation surgery; operated for hypospadias/chordee; bilateral pes planus; bilateral overlapping his second/third toes; gynecomastia; attention deficit disorder; normal renal function; urogenital abnormalities SALL1 SALL1 1 2 Johan den Dunnen
00472569 Fam6Pat2 PubMed: Botzenhart 2007 mother F - - - - - - - TBS right sided ear tag; hearing loss; normal renal function; no urogenital abnormalities SALL1 SALL1 1 1 Johan den Dunnen
00472570 Fam7PatII4 PubMed: Botzenhart 2007 2-generation family, affected son, 3 daughters, father M - - - - - - - TBS anal atresia (treated at birth); profound bilateral sensorineural hearing loss; dysplastic ears; overlapping toes (II and IV on III) , slightly broad thumbs; normal renal function; no urogenital abnormalities SALL1 SALL1 1 5 Johan den Dunnen
00472571 Fam7PatII2 PubMed: Botzenhart 2007 sister F - - - - - - - TBS bilateral sensorineural hearing loss; dysplastic ears; short thumbs, short third toes; normal renal function; no urogenital abnormalities SALL1 SALL1 1 1 Johan den Dunnen
00472572 Fam7PatII3 PubMed: Botzenhart 2007 sister, identical twins F - - - - - - - TBS anteriorally placed anus, anal stenosis (treated at birth); dysplastic ears; senorineural hearing loss; congenital lamellar cataracts/microphthalmia, right eye smaller than left eye; overlapping toes (II and IV on III); facial asymmetry, right side face smaller than left sid; short thumbs, short third left toe, small nail second right toe; normal renal function; no urogenital abnormalities SALL1 SALL1 1 1 Johan den Dunnen
00472573 Fam7PatII4 PubMed: Botzenhart 2007 sister, identical twins F - - - - - - - TBS anteriorally placed anus, anal stenosis (treated at birth); dysplastic ears; senorineural hearing loss; congenital lamellar cataracts/microphthalmia, right eye smaller than left eye; overlapping toes (II and IV on III), short squared off toes; normal renal function; no urogenital abnormalities SALL1 SALL1 1 1 Johan den Dunnen
00472574 Fam7Pat!1 PubMed: Botzenhart 2007 father M - - - - - - - TBS hearing loss; short, broad thumbs/short second toes; 50y-bilateral faint lamellar cataracts, dot cortical lens opacities; normal renal function; no urogenital abnormalities SALL1 SALL1 1 1 Johan den Dunnen
00472575 Pat8 PubMed: Botzenhart 2007 patient M - - - - - - - TBS dysplastic ears; preauricular tag; no hearing loss; imperforate anus; preaxial polydactyly both hands, syndactyly second/third toes; 1y-mild developmental delay; 15m-walk; 2y8m-normal mental development, normal speech development; normal renal function; no urogenital abnormalities SALL1 SALL1 1 1 Johan den Dunnen
00472576 Pat9 PubMed: Botzenhart 2007 patient F - - - - - - - TBS 18wg-oligohydramnios; 35wg-abnormal kidneys; bilateral dysplastic deep set ears, bilateral preauricular tags, leftsided preauricular pit; narrow left auditory canal; bifid right thumb, adducted left thumb; left sided retinal coloboma; bilateral dimples shoulders/elbows/knees; anteriorly placed anus; hypoplastic kidneys; severe feeding difficulty, G-tube placement, never able to eat orally; gastroesophageal reflux; hiatus hernia; hearing loss, delayed speech; renal failure, renal transplant,, pseudotumor cerebri ; SALL1 SALL1 1 1 Johan den Dunnen
00472577 Pat10 PubMed: Botzenhart 2007 patient F - - - - - - - TBS imperforate anus, rectovaginal fistula; impaired renal function; no urogenital abnormalities SALL1 SALL1 1 1 Johan den Dunnen
00472578 Pat11 PubMed: Botzenhart 2007 patient M - - - - - - - TBS birth anal stenosis, mucous crest along anal-scrotal line; unilateral cryptorchidism, unilateral renal agenesis; bilateral triphalangeal thumbs, bilateral overriding fourth on third toes; mildly dysplastic ears; OFC 10th, length 5oth; normal renal function; urogenital abnormalities SALL1 SALL1 1 1 Johan den Dunnen
00472579 Pat12 PubMed: Botzenhart 2007 patient F - - - - - - - TBS outer ear malformations; bilateral triphalangeal thumbs; imperforate anus; mild mental retardation; impaired renal function; no urogenital abnormalities SALL1 SALL1 1 1 Johan den Dunnen
00472580 Fam13Pat1 PubMed: Botzenhart 2007 2-generation family, affected son/mother M - - - - - - - TBS anal ectopy, stenosis; bilateral triphalangeal thumbs; small dysplastic ears; normal right kidney, left kidney in pelvic position; 3m-mild left-sided hearing loss, right moderate hearing loss; MRI brain normal; 2.5y-normal psychomotor development ; normal renal function; no urogenital abnormalities SALL1 SALL1 1 2 Johan den Dunnen
00472581 Fam13Pat2 PubMed: Botzenhart 2007 mother F - - - - - - - TBS small ears; mild hearing loss; bilateral thumb hypoplasia; normal renal function; no urogenital abnormalities SALL1 SALL1 1 1 Johan den Dunnen
00472582 Pat14 PubMed: Botzenhart 2007 patient F - - - - - - - TBS imperforate anus, recto-vaginal fistula; triphalangeal thumb; preaxial polydactyly right side; dysmorphic, mild hypotelorism, small retroverted ears; 5y-mild mental retardation; mild perceptive hearing loss; both feet long toes, second toe overlapping third; elder sister died shortly after birth (short neck, malformed ears, absence external auditory canal, no thumbs and, malformed radii, esophageal atresia, tetralogy of Fallot, unilateral dysplastic kidney); SALL1 SALL1 1 1 Johan den Dunnen
00472583 Pat15 PubMed: Botzenhart 2007 patient F - - - - - - - TBS birth weight 3560 g, length 50 cm, OFC 35 cm; duplicated right thumb, broad left thumb normal terminal phalanx; right preauricular appendix right side; everted, simple ears; anteriorly placed anus; deep presacral dimple; complete cutaneous syndactyly toes III-IV right foot; 2y-normal hearing; mild psychomotor developmental delay; SALL1 SALL1 1 1 Johan den Dunnen
00472584 Fam16Pat1 PubMed: Botzenhart 2007 2-generation family, father/2 affected duaghters F - - - - - - - TBS imperforate anteriorly placed anus; hypoplastic kidneys; vesicoureteral reflux; dysplastic ears, overfolded helices; broad thumb; normal renal function; urogenital abnormalities SALL1 SALL1 1 2 Johan den Dunnen
00472585 Fam16Pat2 PubMed: Botzenhart 2007 sister F - - - - - - - TBS anteriorly placed anus; hypoplastic kidneys; vesicoureteral reflux; large ears; broad triphalangeal thumb; normal renal function; urogenital abnormalities SALL1 SALL1 1 1 Johan den Dunnen
00472586 Pat17 PubMed: Botzenhart 2007 patient F - - - - - - - TBS anteposition anus; unilateral preauricular tag; normal hearing; SALL1 SALL1 1 1 Johan den Dunnen
00472587 Fam18Pat1 PubMed: Botzenhart 2007 2-generation family, affected son/father M - - - - - - - TBS normal birth parameters; imperforate anus; heart murmur, PDA, small ventricular septal defect (3y-closed spontaneously); dysplastic ears; 5y6m-mild bilateral sensorineural hearing loss; broad thumbs, broad great toe, clinodactyly, overlapping second and third toes; pes planus; SALL1 SALL1 1 2 Johan den Dunnen
00472588 Fam18Pat2 PubMed: Botzenhart 2007 father M - - - - - - - TBS duplicated right thumb, broad left thumb, broad great toes; anal dilatation; mild-moderate hearing loss; SALL1 SALL1 1 1 Johan den Dunnen
00472589 Fam19Pat1 PubMed: Botzenhart 2007 2-generation family, 2 affected brothers/mother M - - - - - - - TBS birth 27wg; intracerebral haemorrhage; anal atresia; dysplastic ears, overfolded helices; hypospadias; vesicoureteral reflux; bilateral renal dysplasia; right sided club foot; severe psychomotor retardation; SALL1 SALL1 1 3 Johan den Dunnen
00472590 Fam19Pat2 PubMed: Botzenhart 2007 brother M - - - - - - - TBS right sided ear tag; anal stenosis; clubfeet; normal renal function; no urogenital abnormalities SALL1 SALL1 1 1 Johan den Dunnen
00472591 Fam19Pat3 PubMed: Botzenhart 2007 mother F - - - - - - - TBS duplicated distal phalanx right thumb; anteriorly positioned anus, anal stenosis; normal renal function; no urogenital abnormalities SALL1 SALL1 1 1 Johan den Dunnen
00472592 Fam20Pat1 PubMed: Botzenhart 2007 2-generation family, affected brothers/mother (8 affected, F, 7M) M - - - - - - - TBS bilateral preaxial polydactyly, left sided triphalangeal thumb; imperforate anus; malformed ears; normal renal function; no urogenital abnormalities SALL1 SALL1 1 8 Johan den Dunnen
00472593 Fam20Pat2 PubMed: Botzenhart 2007 brother M - - - - - - - TBS duplicated right thumb, triphalangeal left thumb; a sacral dimple; imperforate anus; kidney length asymmetry; bilateral overfolded ear helices; asymmetric nipple placement; normal renal function; no urogenital abnormalities SALL1 SALL1 1 1 Johan den Dunnen
00472594 Fam20Pat3 PubMed: Botzenhart 2007 mother F - - - - - - - TBS extra bones in both thumbs; hearing difficulties; normal renal function; no urogenital abnormalities SALL1 SALL1 1 1 Johan den Dunnen
00472596 FamAPat1 PubMed: Botzenhart 2005 2-generation family, affected son/father M - - - - - - - TBS see paper; ..., anomaly anus; normal hands; abnormal feet; abnormal ears; normal hearing; abnormality kidneys; impaired renal function; no urogenital abnormalities; normal heart SALL1 SALL1 1 2 Johan den Dunnen
00472597 FamAPat2 PubMed: Botzenhart 2005 father M - - - - - - - TBS see paper; ..., normal anus; abnormal hands; normal feet; abnormal ears; normal hearing; normal kidneys; normal renal function; no urogenital abnormalities; normal heart SALL1 SALL1 1 1 Johan den Dunnen
00472598 FamBPat1 PubMed: Botzenhart 2005 2-generation family, affected child/mother - - - - - - - - TBS see paper; ..., anomaly anus; abnormal hands; normal feet; abnormal ears; hearing loss; normal kidneys; normal renal function; urogenital abnormalities; normal heart SALL1 SALL1 1 2 Johan den Dunnen
00472599 FamBPat2 PubMed: Botzenhart 2005 mother F - - - - - - - TBS see paper; ..., normal anus; abnormal hands; normal feet; normal ears; hearing loss; normal kidneys; normal renal function; no urogenital abnormalities; normal heart SALL1 SALL1 1 1 Johan den Dunnen
00472600 FamCPat1 PubMed: Botzenhart 2005 2-generation family, 1 affected, unaffected non-carrier mother F - - - - - - - TBS see paper; ..., anomaly anus; abnormal hands; abnormal feet; abnormal ears; normal hearing; normal kidneys; normal renal function; urogenital abnormalities; ventricular septal defect SALL1 SALL1 1 1 Johan den Dunnen
00472601 FamDPat1 PubMed: Botzenhart 2005 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - TBS see paper; ..., anomaly anus; abnormal hands; normal feet; abnormal ears; hearing loss; normal kidneys; normal renal function; urogenital abnormalities; normal heart SALL1 SALL1 1 1 Johan den Dunnen
00472602 FamEPat1 PubMed: Botzenhart 2005 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - TBS see paper; ..., anomaly anus; abnormal hands; abnormal feet; abnormal ears; normal hearing; normal kidneys; normal renal function; urogenital abnormalities; normal heart SALL1 SALL1 1 1 Johan den Dunnen
00472603 FamFPat1 PubMed: Botzenhart 2005 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - TBS see paper; ..., anomaly anus; abnormal hands; normal feet; abnormal ears; hearing loss; abnormality kidneys; impaired renal function; urogenital abnormalities; normal heart SALL1 SALL1 1 1 Johan den Dunnen
00472604 FamGPat1 PubMed: Botzenhart 2005 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - TBS see paper; ..., anomaly anus; abnormal hands; abnormal feet; abnormal ears; hearing loss; abnormality kidneys; normal renal function; no urogenital abnormalities; normal heart SALL1 SALL1 1 1 Johan den Dunnen
00472605 FamHPat1 PubMed: Botzenhart 2005 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - TBS see paper; ..., anomaly anus; abnormal hands; normal feet; abnormal ears; normal hearing; abnormality kidneys; normal renal function; urogenital abnormalities; normal heart SALL1 SALL1 1 1 Johan den Dunnen
00472606 FamIPat1 PubMed: Botzenhart 2005 2-generation family, affected child/father - - - - - - - - TBS see paper; ..., anomaly anus; abnormal hands; normal feet; normal ears; hearing loss; abnormality kidneys; normal renal function; no urogenital abnormalities; normal heart SALL1 SALL1 1 2 Johan den Dunnen
00472607 FamIPat2 PubMed: Botzenhart 2005 father M - - - - - - - TBS see paper; ..., anomaly anus; abnormal hands; abnormal feet; abnormal ears; hearing loss; normal kidneys; normal renal function; no urogenital abnormalities; normal heart SALL1 SALL1 1 1 Johan den Dunnen
00472608 FamJPat1 PubMed: Botzenhart 2005 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - TBS see paper; ..., anomaly anus; abnormal hands; abnormal feet; abnormal ears; normal hearing; normal kidneys; normal renal function; no urogenital abnormalities; normal heart SALL1 SALL1 1 1 Johan den Dunnen
00472609 FamKPat1 PubMed: Botzenhart 2005 2-generation family, affected sister/brother/mother F - - - - - - - TBS see paper; ..., anomaly anus; abnormal hands; normal feet; abnormal ears; hearing loss; abnormality kidneys; normal renal function; urogenital abnormalities; normal heart SALL1 SALL1 1 3 Johan den Dunnen
00472610 FamKPat2 PubMed: Botzenhart 2005 brother M - - - - - - - TBS see paper; ..., anomaly anus; abnormal hands; abnormal feet; abnormal ears; hearing loss; abnormality kidneys; normal renal function; urogenital abnormalities; normal heart SALL1 SALL1 1 1 Johan den Dunnen
00472611 FamKPat3 PubMed: Botzenhart 2005 mother F - - - - - - - TBS see paper; ..., normal anus; abnormal hands; normal feet; abnormal ears; hearing loss; abnormality kidneys; normal renal function; no urogenital abnormalities; normal heart SALL1 SALL1 1 1 Johan den Dunnen
00472612 FamLPat1 PubMed: Botzenhart 2005 4-generation family, 10 affected individuals M - - - - - - - TBS see paper; ..., anomaly anus; abnormal hands; normal feet; normal ears; hearing loss; abnormality kidneys; impaired renal function; no urogenital abnormalities; normal heart SALL1 SALL1 1 10 Johan den Dunnen
00472613 FamLPat2 PubMed: Botzenhart 2005 daughter F - - - - - - - TBS see paper; ..., anomaly anus; normal hands; normal feet; abnormal ears; normal hearing; abnormality kidneys; impaired renal function; no urogenital abnormalities; normal heart SALL1 SALL1 1 1 Johan den Dunnen
00472614 FamLPat3 PubMed: Botzenhart 2005 daughter F - - - - - - - TBS see paper; ..., anomaly anus; abnormal hands; abnormal feet; abnormal ears; hearing loss; abnormality kidneys; impaired renal function; no urogenital abnormalities; normal heart SALL1 SALL1 1 1 Johan den Dunnen
00472615 FamLPat4 PubMed: Botzenhart 2005 daughter F - - - - - - - TBS see paper; ..., anomaly anus; abnormal hands; normal feet; abnormal ears; normal hearing; normal kidneys; impaired renal function; no urogenital abnormalities; normal heart SALL1 SALL1 1 1 Johan den Dunnen
00472616 FamLPat5 PubMed: Botzenhart 2005 grandson M - - - - - - - TBS see paper; ..., normal anus; abnormal hands; normal feet; abnormal ears; hearing loss; normal kidneys; normal renal function; no urogenital abnormalities; normal heart SALL1 SALL1 1 1 Johan den Dunnen
00472617 FamLPat6 PubMed: Botzenhart 2005 grandson M - - - - - - - TBS see paper; ..., anomaly anus; normal hands; abnormal feet; normal ears; normal hearing; abnormality kidneys; impaired renal function; no urogenital abnormalities; normal heart SALL1 SALL1 1 1 Johan den Dunnen
00472618 FamLPat7 PubMed: Botzenhart 2005 granddaughter F - - - - - - - TBS see paper; ..., anomaly anus; abnormal hands; normal feet; abnormal ears; hearing loss; normal kidneys; normal renal function; no urogenital abnormalities; normal heart SALL1 SALL1 1 1 Johan den Dunnen
00472619 FamLPat8 PubMed: Botzenhart 2005 grandson M - - - - - - - TBS see paper; ..., anomaly anus; abnormal hands; abnormal feet; abnormal ears; hearing loss; normal kidneys; normal renal function; no urogenital abnormalities; normal heart SALL1 SALL1 1 1 Johan den Dunnen
00472620 FamLPat9 PubMed: Botzenhart 2005 grand grandson M - - - - - - - TBS see paper; ..., anomaly anus; abnormal hands; abnormal feet; abnormal ears; hearing loss; normal kidneys; normal renal function; no urogenital abnormalities; normal heart SALL1 SALL1 1 1 Johan den Dunnen
00472621 FamLPat10 PubMed: Botzenhart 2005 grand grandson M - - - - - - - TBS see paper; ..., anomaly anus; abnormal hands; normal feet; abnormal ears; hearing loss; abnormality kidneys; normal renal function; no urogenital abnormalities; normal heart SALL1 SALL1 1 1 Johan den Dunnen
00472622 FamMPat1 PubMed: Botzenhart 2005 3-generation family, affected son/mother, grandfather M - - - - - - - TBS see paper; ..., anomaly anus; abnormal hands; normal feet; abnormal ears; hearing loss; normal kidneys; normal renal function; no urogenital abnormalities; normal heart SALL1 SALL1 1 3 Johan den Dunnen
00472623 FamMPat2 PubMed: Botzenhart 2005 mother F - - - - - - - TBS see paper; ..., anomaly anus; abnormal hands; normal feet; abnormal ears; normal hearing; normal kidneys; normal renal function; no urogenital abnormalities; normal heart SALL1 SALL1 1 1 Johan den Dunnen
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