Phenotypes for disease #00719 (TBS (Townes-Brocks syndrome (TBS)))

Legend

Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.

Phenotype details: additional information on the phenotype of the individual, preferably use HPO terms only (http://www.human-phenotype-ontology.org/)

Diagnosis/Initial: initial diagnosis, before molecular testing

Diagnosis/Definite: phenotype individual after molecular testing (OMIM abbreviation)

Inheritance: Indicates the inheritance of the phenotype in the family; unknown, familial (autosomal/X-linked, dominant/ recessive), paternal (Y-linked), maternal (mitochondrial), isolated (sporadic) or complex
All options:

Unknown
Familial
Familial, autosomal dominant
Familial, autosomal recessive
Familial, X-linked
Familial, X-linked dominant
Familial, X-linked dominant, male sparing
Familial, X-linked recessive
Paternal, Y-linked
Maternal, mitochondrial
Isolated (sporadic)
Di-genic
Complex
- = Not applicable

Age/Examination: age at which the individual was examined.

35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

Age/Diagnosis: age diagnosis was confirmed

35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

Age/Onset: Age first symptoms disease appeared in individual:

35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

Phenotype/Onset: individual's phenotype at Age/Onset described using HPO

Protein: result from protein staining

How to query this table

All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.

Operator	Column type	Example	Matches
	Text	Arg	all entries containing 'Arg'
space	Text	Arg Ser	all entries containing 'Arg' and 'Ser'
\|	Text	Arg\|Ser	all entries containing 'Arg' or 'Ser'
!	Text	!fs	all entries not containing 'fs'
^	Text	^p.(Arg	all entries beginning with 'p.(Arg'
$	Text	Ser)$	all entries ending with 'Ser)'
=""	Text	=""	all entries with this field empty
=""	Text	="p.0"	all entries exactly matching 'p.0'
!=""	Text	!=""	all entries with this field not empty
!=""	Text	!="p.0"	all entries not exactly matching 'p.0?'
combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
	Date	2020	all entries matching the year 2020
\|	Date	2020-03\|2020-04	all entries matching March or April, 2020
!	Date	!2020-03	all entries not matching March, 2020
<	Date	<2020	all entries before the year 2020
<=	Date	<=2020-06	all entries in or before June, 2020
>	Date	>2020-06	all entries after June, 2020
>=	Date	>=2020-06-15	all entries on or after June 15th, 2020
combination	Date	2019\|2020 <2020-03	all entries in 2019 or 2020, and before March, 2020
	Numeric	23	all entries exactly matching 23
\|	Numeric	23\|24	all entries exactly matching 23 or 24
!	Numeric	!23	all entries not exactly matching 23
<	Numeric	<23	all entries lower than 23
<=	Numeric	<=23	all entries lower than, or equal to, 23
>	Numeric	>23	all entries higher than 23
>=	Numeric	>=23	all entries higher than, or equal to, 23
combination	Numeric	>=20 <30 !23	all entries with values from 20 to 29, but not equal to 23

Some more advanced examples:

Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian	all entries containing 'Asian' but not containing 'Caucasian'
Asian\|African !Caucasian	all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

To sort on a certain column, click on the column header or on the arrows. If that column is already selected to sort on, the sort order will be swapped. The column currently sorted on has a darker blue background color than the other columns. The up and down arrows next to the column name indicate the current sorting direction. When sorting on any field other than the default, LOVD will sort secondarily on the default sort column.

106 entries on 2 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2		Next ›	Last »

Phenotype ID	Phenotype details	Diagnosis/Initial	Diagnosis/Definite	Inheritance	Age/Examination	Age/Diagnosis	Age/Onset	Phenotype/Onset	Protein	Owner	Individual ID
0000330904	congenital anal atresia, rectal perineal fistula, ventricular septal defect, patent ductus arteriosus, pulmonary hypertension, finger deformities	Townes-Brocks syndrome	tbs	Familial, autosomal dominant	00y02m	-	-	-	-	Johan den Dunnen	00441464
0000330905	external ear deformity, deafness, toe deformities, pulmonary hypertension, normal anus	Townes-Brocks syndrome	TBS	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00441465
0000357307	HP:0001629, HP:0001653, HP:0001655, HP:0002023, HP:0003244, HP:0004871, HP:0005180, HP:0008551, HP:0009942, HP:0030319, HP:0001627	TBS	TBS1	Isolated (sporadic)	-	-	-	-	-	Marketa Wayhelova	00472497
0000357308	HP:0000083, HP:0012732, HP:0009942	TBS	TBS1	Familial	-	-	-	-	-	Marketa Wayhelova	00472498
0000357319	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	Townes-Brocks syndrome	TBS1	Unknown	05y	-	-	-	-	Johan den Dunnen	00472513
0000357320	-	Townes-Brocks syndrome	TBS1	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00472514
0000357321	-	Townes-Brocks syndrome	TBS1	Isolated (sporadic)	-	-	-	-	-	Johan den Dunnen	00472515
0000357322	imperforate anus, fistula; preaxial polydactyly, triphalangeal thumbs; dysplastic ears; borderline small kidneys; atrial septum defect	Townes-Brocks syndrome	TBS1	Unknown	-	-	-	-	-	Johan den Dunnen	00472516
0000357323	imperforate anus; preaxial polydactyly, triphalangeal thumbs; dysplastic ears	Townes-Brocks syndrome	TBS1	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00472517
0000357324	imperforate anus, fistula; preaxial polydactyly, triphalangeal thumbs; dysplastic ears	Townes-Brocks syndrome	TBS1	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00472518
0000357325	imperforate anus, fistula; preaxial polydactyly, triphalangeal thumbs; dysplastic ears	Townes-Brocks syndrome	TBS1	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00472519
0000357326	imperforate anus, fistula; preaxial polydactyly; dysplastic ears	Townes-Brocks syndrome	TBS1	Isolated (sporadic)	-	-	-	-	-	Johan den Dunnen	00472520
0000357327	imperforate anus; triphalangeal thumbs; dysplastic ears	Townes-Brocks syndrome	TBS1	Isolated (sporadic)	-	-	-	-	-	Johan den Dunnen	00472521
0000357328	“Bucket handle”; triphalangeal thumbs; dysplastic ears	Townes-Brocks syndrome	TBS1	Isolated (sporadic)	-	-	-	-	-	Johan den Dunnen	00472522
0000357329	imperforate anus; partial preaxial polydactyly, misplaced thumbs; dysplastic ears	Townes-Brocks syndrome	TBS1	Unknown	-	-	-	-	-	Johan den Dunnen	00472523
0000357330	imperforate anus; preaxial polydactyly; dysplastic ears	Townes-Brocks syndrome	TBS1	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00472524
0000357331	-	Townes-Brocks syndrome	TBS1	Unknown	-	-	-	-	-	Johan den Dunnen	00472525
0000357332	preaxial polydactyly, triphalangeal thumbs, syndactyly III-IV; sensorineural hearing loss; bilateral hypoplastic kidneys, reduced clearance; syndactyly III-IV; hallux vagus;	Townes-Brocks syndrome	TBS1	Isolated (sporadic)	-	-	-	-	-	Johan den Dunnen	00472526
0000357333	imperforate anus, fistula; preaxial polydactyly, triphalangeal thumbs; dysplastic ears	Townes-Brocks syndrome	TBS1	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00472527
0000357334	misplaced fingerlike thumbs; dysplastic ears; unilateral agenesis kidneys, reduced clearance	Townes-Brocks syndrome	TBS1	Unknown	-	-	-	-	-	Johan den Dunnen	00472528
0000357335	medially rotated thumbs; sensorineural hearing loss; proteinuria; pes planus; caridac murmur;	Townes-Brocks syndrome	TBS1	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00472529
0000357336	imperforate anus, fistula; elongated proximal phalanges; dysplastic ears	Townes-Brocks syndrome	TBS1	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00472530
0000357337	imperforate anus, fistula; dysplastic ears	Townes-Brocks syndrome	TBS1	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00472531
0000357338	anteriorly placed anus; dysplastic ears	Townes-Brocks syndrome	TBS1	Unknown	-	-	-	-	-	Johan den Dunnen	00472532
0000357339	imperforate anus; bifid thumbs; ears preauricular tags; mild sensorineural hearing loss; bilateral renal hypoplasia; persistent ductus arteriosus; foot malformations, abnormal toes	Townes-Brocks syndrome	TBS1	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00472536
0000357340	imperforate anus; triphalangeal thumbs; ears preauricular tags; severe mixed hearing loss; normal renal ultrasonography; bifid toes	Townes-Brocks syndrome	TBS1	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00472537
0000357341	imperforate anus, perineal fistula; triphalangeal thumbs; ears microtia; moderatesensorineural hearing loss; normal renal ultrasonography; foot malformation; arachnodactyly	Townes-Brocks syndrome	TBS1	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00472538
0000357342	stenosis, antepositioned anus; broad thumbs; ears microtia, low set ears	Townes-Brocks syndrome	TBS1	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00472539
0000357343	imperforate anus; bifid thumbs; ears preauricular tags, abnormal helix, low set ears; unilateral renal agenesis; metacarpal anomalies; growth delay; hand syndactylies	Townes-Brocks syndrome	TBS1	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00472540
0000357344	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	Townes-Brocks syndrome	TBS1	Isolated (sporadic)	-	-	-	-	-	Johan den Dunnen	00472541
0000357345	imperforate anus, perineal fistula; hexadactyly, triphalangeal thumbs; external auditory atresia, ears microtia, ears preauricular tags/pits; profound sensorineural hearing loss; bilateral renal hypoplasia	Townes-Brocks syndrome	TBS1	Isolated (sporadic)	-	-	-	-	-	Johan den Dunnen	00472542
0000357346	imperforate anus; hexadactyly, triphalangeal thumbs; external auditory atresia, ears microtia; profound mixed hearing loss; renal failure; foot malformations; retinal maculopathy; angioedema	Townes-Brocks syndrome	TBS1	Isolated (sporadic)	-	-	-	-	-	Johan den Dunnen	00472543
0000357347	vulvar anus; hexadactyly thumbs; normal ears; no hearing loss; normal renal ultrasonography	Townes-Brocks syndrome	TBS1	Isolated (sporadic)	-	-	-	-	-	Johan den Dunnen	00472544
0000357348	imperforate anus; triphalangeal thumbs; normal ears; no hearing loss; normal renal ultrasonography; pubertal delay	Townes-Brocks syndrome	-	Isolated (sporadic)	-	-	-	-	-	Johan den Dunnen	00472545
0000357349	imperforate anus; normal thumbs; external ear aplasia; mixed hearing loss; normal renal ultrasonography; hand/foot syndactylies	Townes-Brocks syndrome	-	Isolated (sporadic)	-	-	-	-	-	Johan den Dunnen	00472546
0000357350	imperforate anus; triphalangeal thumbs; ears preauricular tags, overfolded helix; no hearing loss; normal renal ultrasonography	Townes-Brocks syndrome	TBS1	Isolated (sporadic)	-	-	-	-	-	Johan den Dunnen	00472547
0000357352	see paper; ...	Townes-Brocks syndrome	TBS1	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00472555
0000357353	see paper; ...	Townes-Brocks like syndrome	TBS1	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00472556
0000357355	see paper; ..., hands preaxial polydactyly, normal feet; imperforate anus, rectal atresia, hypospadias, ears overfolded helices	Townes-Brocks syndrome	TBS1	Unknown	-	-	-	-	-	Johan den Dunnen	00472558
0000357356	see paper; ... hands preaxial polydactyly, triphalangeal thumb, normal feet;	Townes-Brocks syndrome	TBS1	Unknown	-	-	-	-	-	Johan den Dunnen	00472559
0000357360	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	Townes-Brocks syndrome	TBS1	Isolated (sporadic)	-	-	-	-	-	Johan den Dunnen	00472563
0000357361	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	Townes-Brocks syndrome	TBS1	Isolated (sporadic)	-	-	-	-	-	Johan den Dunnen	00472564
0000357362	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	Townes-Brocks syndrome	TBS1	Isolated (sporadic)	-	-	-	-	-	Johan den Dunnen	00472565
0000357363	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	Townes-Brocks syndrome	TBS1	Isolated (sporadic)	-	-	-	-	-	Johan den Dunnen	00472566
0000357364	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	Townes-Brocks syndrome	TBS1	Isolated (sporadic)	-	-	-	-	-	Johan den Dunnen	00472567
0000357365	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	Townes-Brocks syndrome	TBS1	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00472568
0000357366	right sided ear tag; hearing loss; normal renal function; no urogenital abnormalities	Townes-Brocks syndrome	TBS1	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00472569
0000357367	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	Townes-Brocks syndrome	TBS1	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00472570
0000357368	bilateral sensorineural hearing loss; dysplastic ears; short thumbs, short third toes; normal renal function; no urogenital abnormalities	Townes-Brocks syndrome	TBS1	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00472571
0000357369	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	Townes-Brocks syndrome	TBS1	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00472572
0000357370	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	Townes-Brocks syndrome	TBS1	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00472573
0000357371	hearing loss; short, broad thumbs/short second toes; 50y-bilateral faint lamellar cataracts, dot cortical lens opacities; normal renal function; no urogenital abnormalities	Townes-Brocks syndrome	TBS1	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00472574
0000357372	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	Townes-Brocks syndrome	TBS1	Isolated (sporadic)	-	-	-	-	-	Johan den Dunnen	00472575
0000357373	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 ;	Townes-Brocks syndrome	TBS1	Isolated (sporadic)	-	-	-	-	-	Johan den Dunnen	00472576
0000357374	imperforate anus, rectovaginal fistula; impaired renal function; no urogenital abnormalities	Townes-Brocks syndrome	TBS1	Isolated (sporadic)	-	-	-	-	-	Johan den Dunnen	00472577
0000357375	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	Townes-Brocks syndrome	TBS1	Isolated (sporadic)	-	-	-	-	-	Johan den Dunnen	00472578
0000357376	outer ear malformations; bilateral triphalangeal thumbs; imperforate anus; mild mental retardation; impaired renal function; no urogenital abnormalities	Townes-Brocks syndrome	TBS1	Isolated (sporadic)	-	-	-	-	-	Johan den Dunnen	00472579
0000357377	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	Townes-Brocks syndrome	TBS1	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00472580
0000357378	small ears; mild hearing loss; bilateral thumb hypoplasia; normal renal function; no urogenital abnormalities	Townes-Brocks syndrome	TBS1	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00472581
0000357379	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);	Townes-Brocks syndrome	TBS1	Isolated (sporadic)	-	-	-	-	-	Johan den Dunnen	00472582
0000357380	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;	Townes-Brocks syndrome	TBS1	Isolated (sporadic)	-	-	-	-	-	Johan den Dunnen	00472583
0000357381	imperforate anteriorly placed anus; hypoplastic kidneys; vesicoureteral reflux; dysplastic ears, overfolded helices; broad thumb; normal renal function; urogenital abnormalities	Townes-Brocks syndrome	TBS1	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00472584
0000357382	anteriorly placed anus; hypoplastic kidneys; vesicoureteral reflux; large ears; broad triphalangeal thumb; normal renal function; urogenital abnormalities	Townes-Brocks syndrome	TBS1	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00472585
0000357383	anteposition anus; unilateral preauricular tag; normal hearing;	Townes-Brocks syndrome	TBS1	Isolated (sporadic)	-	-	-	-	-	Johan den Dunnen	00472586
0000357384	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;	Townes-Brocks syndrome	TBS1	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00472587
0000357385	duplicated right thumb, broad left thumb, broad great toes; anal dilatation; mild-moderate hearing loss;	Townes-Brocks syndrome	TBS1	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00472588
0000357386	birth 27wg; intracerebral haemorrhage; anal atresia; dysplastic ears, overfolded helices; hypospadias; vesicoureteral reflux; bilateral renal dysplasia; right sided club foot; severe psychomotor retardation;	Townes-Brocks syndrome	TBS1	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00472589
0000357387	right sided ear tag; anal stenosis; clubfeet; normal renal function; no urogenital abnormalities	Townes-Brocks syndrome	TBS1	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00472590
0000357388	duplicated distal phalanx right thumb; anteriorly positioned anus, anal stenosis; normal renal function; no urogenital abnormalities	Townes-Brocks syndrome	TBS1	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00472591
0000357389	bilateral preaxial polydactyly, left sided triphalangeal thumb; imperforate anus; malformed ears; normal renal function; no urogenital abnormalities	Townes-Brocks syndrome	TBS1	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00472592
0000357390	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	Townes-Brocks syndrome	TBS1	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00472593
0000357391	extra bones in both thumbs; hearing difficulties; normal renal function; no urogenital abnormalities	Townes-Brocks syndrome	TBS1	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00472594
0000357392	see paper; ..., anomaly anus; normal hands; abnormal feet; abnormal ears; normal hearing; abnormality kidneys; impaired renal function; no urogenital abnormalities; normal heart	Townes-Brocks syndrome	TBS1	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00472596
0000357393	see paper; ..., normal anus; abnormal hands; normal feet; abnormal ears; normal hearing; normal kidneys; normal renal function; no urogenital abnormalities; normal heart	Townes-Brocks syndrome	TBS1	Unknown	-	-	-	-	-	Johan den Dunnen	00472597
0000357394	see paper; ..., anomaly anus; abnormal hands; normal feet; abnormal ears; hearing loss; normal kidneys; normal renal function; urogenital abnormalities; normal heart	Townes-Brocks syndrome	TBS1	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00472598
0000357395	see paper; ..., normal anus; abnormal hands; normal feet; normal ears; hearing loss; normal kidneys; normal renal function; no urogenital abnormalities; normal heart	Townes-Brocks syndrome	TBS1	Unknown	-	-	-	-	-	Johan den Dunnen	00472599
0000357396	see paper; ..., anomaly anus; abnormal hands; abnormal feet; abnormal ears; normal hearing; normal kidneys; normal renal function; urogenital abnormalities; ventricular septal defect	Townes-Brocks syndrome	TBS1	Unknown	-	-	-	-	-	Johan den Dunnen	00472600
0000357397	see paper; ..., anomaly anus; abnormal hands; normal feet; abnormal ears; hearing loss; normal kidneys; normal renal function; urogenital abnormalities; normal heart	Townes-Brocks syndrome	TBS1	Unknown	-	-	-	-	-	Johan den Dunnen	00472601
0000357398	see paper; ..., anomaly anus; abnormal hands; abnormal feet; abnormal ears; normal hearing; normal kidneys; normal renal function; urogenital abnormalities; normal heart	Townes-Brocks syndrome	TBS1	Unknown	-	-	-	-	-	Johan den Dunnen	00472602
0000357399	see paper; ..., anomaly anus; abnormal hands; normal feet; abnormal ears; hearing loss; abnormality kidneys; impaired renal function; urogenital abnormalities; normal heart	Townes-Brocks syndrome	TBS1	Unknown	-	-	-	-	-	Johan den Dunnen	00472603
0000357400	see paper; ..., anomaly anus; abnormal hands; abnormal feet; abnormal ears; hearing loss; abnormality kidneys; normal renal function; no urogenital abnormalities; normal heart	Townes-Brocks syndrome	TBS1	Unknown	-	-	-	-	-	Johan den Dunnen	00472604
0000357401	see paper; ..., anomaly anus; abnormal hands; normal feet; abnormal ears; normal hearing; abnormality kidneys; normal renal function; urogenital abnormalities; normal heart	Townes-Brocks syndrome	TBS1	Unknown	-	-	-	-	-	Johan den Dunnen	00472605
0000357402	see paper; ..., anomaly anus; abnormal hands; normal feet; normal ears; hearing loss; abnormality kidneys; normal renal function; no urogenital abnormalities; normal heart	Townes-Brocks syndrome	TBS1	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00472606
0000357403	see paper; ..., anomaly anus; abnormal hands; abnormal feet; abnormal ears; hearing loss; normal kidneys; normal renal function; no urogenital abnormalities; normal heart	Townes-Brocks syndrome	TBS1	Unknown	-	-	-	-	-	Johan den Dunnen	00472607
0000357404	see paper; ..., anomaly anus; abnormal hands; abnormal feet; abnormal ears; normal hearing; normal kidneys; normal renal function; no urogenital abnormalities; normal heart	Townes-Brocks syndrome	TBS1	Unknown	-	-	-	-	-	Johan den Dunnen	00472608
0000357405	see paper; ..., anomaly anus; abnormal hands; normal feet; abnormal ears; hearing loss; abnormality kidneys; normal renal function; urogenital abnormalities; normal heart	Townes-Brocks syndrome	TBS1	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00472609
0000357406	see paper; ..., anomaly anus; abnormal hands; abnormal feet; abnormal ears; hearing loss; abnormality kidneys; normal renal function; urogenital abnormalities; normal heart	Townes-Brocks syndrome	TBS1	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00472610
0000357407	see paper; ..., normal anus; abnormal hands; normal feet; abnormal ears; hearing loss; abnormality kidneys; normal renal function; no urogenital abnormalities; normal heart	Townes-Brocks syndrome	TBS1	Unknown	-	-	-	-	-	Johan den Dunnen	00472611
0000357408	see paper; ..., anomaly anus; abnormal hands; normal feet; normal ears; hearing loss; abnormality kidneys; impaired renal function; no urogenital abnormalities; normal heart	Townes-Brocks syndrome	TBS1	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00472612
0000357409	see paper; ..., anomaly anus; normal hands; normal feet; abnormal ears; normal hearing; abnormality kidneys; impaired renal function; no urogenital abnormalities; normal heart	Townes-Brocks syndrome	TBS1	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00472613
0000357410	see paper; ..., anomaly anus; abnormal hands; abnormal feet; abnormal ears; hearing loss; abnormality kidneys; impaired renal function; no urogenital abnormalities; normal heart	Townes-Brocks syndrome	TBS1	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00472614
0000357411	see paper; ..., anomaly anus; abnormal hands; normal feet; abnormal ears; normal hearing; normal kidneys; impaired renal function; no urogenital abnormalities; normal heart	Townes-Brocks syndrome	TBS1	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00472615
0000357412	see paper; ..., normal anus; abnormal hands; normal feet; abnormal ears; hearing loss; normal kidneys; normal renal function; no urogenital abnormalities; normal heart	Townes-Brocks syndrome	TBS1	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00472616
0000357413	see paper; ..., anomaly anus; normal hands; abnormal feet; normal ears; normal hearing; abnormality kidneys; impaired renal function; no urogenital abnormalities; normal heart	Townes-Brocks syndrome	TBS1	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00472617
0000357414	see paper; ..., anomaly anus; abnormal hands; normal feet; abnormal ears; hearing loss; normal kidneys; normal renal function; no urogenital abnormalities; normal heart	Townes-Brocks syndrome	TBS1	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00472618
0000357415	see paper; ..., anomaly anus; abnormal hands; abnormal feet; abnormal ears; hearing loss; normal kidneys; normal renal function; no urogenital abnormalities; normal heart	Townes-Brocks syndrome	TBS1	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00472619
0000357416	see paper; ..., anomaly anus; abnormal hands; abnormal feet; abnormal ears; hearing loss; normal kidneys; normal renal function; no urogenital abnormalities; normal heart	Townes-Brocks syndrome	TBS1	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00472620
0000357417	see paper; ..., anomaly anus; abnormal hands; normal feet; abnormal ears; hearing loss; abnormality kidneys; normal renal function; no urogenital abnormalities; normal heart	Townes-Brocks syndrome	TBS1	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00472621
0000357418	see paper; ..., anomaly anus; abnormal hands; normal feet; abnormal ears; hearing loss; normal kidneys; normal renal function; no urogenital abnormalities; normal heart	Townes-Brocks syndrome	TBS1	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00472622
0000357419	see paper; ..., anomaly anus; abnormal hands; normal feet; abnormal ears; normal hearing; normal kidneys; normal renal function; no urogenital abnormalities; normal heart	Townes-Brocks syndrome	TBS1	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00472623

	Legend	How to query	« First	‹ Prev		1	2		Next ›	Last »

Global Variome shared LOVD