Phenotypes for disease #02098 (PDS;TDH2B (Pendred syndrome (PDS, Thyroid dyshormonogenesis 2B)), OMIM:274600)

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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

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combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
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\|	Date	2020-03\|2020-04	all entries matching March or April, 2020
!	Date	!2020-03	all entries not matching March, 2020
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combination	Date	2019\|2020 <2020-03	all entries in 2019 or 2020, and before March, 2020
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\|	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
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Example	Matches
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"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

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97 entries on 1 page. Showing entries 1 - 97.

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Phenotype ID	Phenotype details	Diagnosis/Initial	Diagnosis/Definite	Inheritance	Age/Examination	Age/Diagnosis	Age/Onset	Phenotype/Onset	Protein	Owner	Individual ID
0000132149	Profound HL,EVA,Mondini dysplasia,euthyroid multinodular goiter	Pendred syndrome	-	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00167285
0000132150	No Mondini dysplasia	Pendred syndrome	-	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00167286
0000132151	No Mondini dysplasia	Pendred syndrome	-	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00167287
0000132152	No mondini dysplasia	Pendred syndrome	-	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00167288
0000132153	No detailed informations concerning the phenotype in this case.	Pendred syndrome	-	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00167289
0000132154	Profound HL,EVA,Mondini dysplasia, euthyroid multinodular goiter	Pendred syndrome	-	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00167290
0000132155	Sever HL,euthyroid multinodular goiter,vestibular aqueduct examination not done.	Pendred syndrome	-	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00167291
0000132156	Moderate HL,EVA,No goiter(age 8 years old)	Pendred syndrome	-	Unknown	-	-	-	-	-	Anne-Françoise Roux	00167292
0000132158	-	Pendred syndrome	-	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00167294
0000132159	-	Pendred syndrome	-	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00167295
0000132171	-	Pendred syndrome	-	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00167307
0000132172	-	Pendred syndrome	-	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00167308
0000132173	-	Pendred syndrome	-	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00167309
0000132174	Vestibular aqueduct examination not performed.	Pendred syndrome	-	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00167310
0000132175	-	Pendred syndrome	-	Unknown	-	-	-	-	-	Anne-Françoise Roux	00167311
0000132277	Hypothyroid goiter.	Pendred syndrome	-	Unknown	-	-	-	-	-	Anne-Françoise Roux	00167413
0000132278	No thyroid abnormalities (age 17y)	Pendred syndrome	-	Unknown	-	-	-	-	-	Anne-Françoise Roux	00167414
0000132279	Positive PDT,high anti-TPO antibodies,No goiter (age 12y)	Pendred syndrome	-	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00167415
0000132280	No thyroid abnormalities (Age 42y)	Pendred syndrome	-	Unknown	-	-	-	-	-	Anne-Françoise Roux	00167416
0000132281	Goiter,positive PDT,high anti-TPO antibodies	Pendred syndrome	-	Unknown	-	-	-	-	-	Anne-Françoise Roux	00167417
0000132282	No thyroid abnormalities (age 27y)	Pendred syndrome	-	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00167418
0000132283	High serum thyroglobulin (Tg) level, No goiter (age 12y)	Pendred syndrome	-	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00167419
0000132284	No thyroid abnormalities (age 14y)	Pendred syndrome	-	Unknown	-	-	-	-	-	Anne-Françoise Roux	00167420
0000132285	Goiter, high serum thyroglobulin (Tg) level	Pendred syndrome	-	Unknown	-	-	-	-	-	Anne-Françoise Roux	00167421
0000132286	No thyroid abnormalities (age 12y)	Pendred syndrome	-	Unknown	-	-	-	-	-	Anne-Françoise Roux	00167422
0000132287	Post-lingual (started at age of 10y), progressive hearing loss.	Pendred syndrome	-	Unknown	-	-	-	-	-	Anne-Françoise Roux	00167423
0000132288	No goiter (age 21y)	Pendred syndrome	-	Unknown	-	-	-	-	-	Anne-Françoise Roux	00167424
0000132289	Hypothyroidism, radiological examination of vestibular aqueduct is not available.	Pendred syndrome	-	Unknown	-	-	-	-	-	Anne-Françoise Roux	00167425
0000132290	Hypothyroidism,radiological examination of vestibular aqueduct is not available	Pendred syndrome	-	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00167426
0000132291	No goiter, age and radiological examination of vestibular aqueduct are not available.	Pendred syndrome	-	Unknown	-	-	-	-	-	Anne-Françoise Roux	00167427
0000132292	Radiological examination of vestibular aqueduct is not available	Pendred syndrome	-	Unknown	-	-	-	-	-	Anne-Françoise Roux	00167428
0000132293	No goiter, age and radiological examination of vestibular aqueduct are not available	Pendred syndrome	-	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00167429
0000132294	Radiological examination of vestibular aqueduct is not available	Pendred syndrome	-	Unknown	-	-	-	-	-	Anne-Françoise Roux	00167430
0000132295	Mondini dysplasia, No thyroid abnormalities, age (4-13y)	Pendred syndrome	-	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00167431
0000132296	Mondini dysplasia, No thyroid abnormalities, age (4-13y)	Pendred syndrome	-	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00167432
0000132297	Mondini dysplasia, No thyroid abnormalities, age (4-13y)	Pendred syndrome	-	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00167433
0000132298	Mondini dysplasia, No thyroid abnormalities, age (4-13y)	Pendred syndrome	-	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00167434
0000132299	Mondini dysplasia, No thyroid abnormalities, age (4-13y)	Pendred syndrome	-	Unknown	-	-	-	-	-	Anne-Françoise Roux	00167435
0000132300	Mondini dysplasia, No thyroid abnormalities, age (4-13y)	Pendred syndrome	-	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00167436
0000132301	Mondini dysplasia, No thyroid abnormalities, age (4-13y)	Pendred syndrome	-	Unknown	-	-	-	-	-	Anne-Françoise Roux	00167437
0000132302	Mondini dysplasia, No thyroid abnormalities, age (4-13y)	Pendred syndrome	-	Unknown	-	-	-	-	-	Anne-Françoise Roux	00167438
0000132303	Mondini dysplasia, No thyroid abnormalities, age (4-13y)	Pendred syndrome	-	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00167439
0000132304	Mondini dysplasia, No thyroid abnormalities, age (4-13y)	Pendred syndrome	-	Unknown	-	-	-	-	-	Anne-Françoise Roux	00167440
0000132325	Mondini dysplasia	Pendred syndrome	-	Unknown	-	-	-	-	-	Anne-Françoise Roux	00167461
0000132337	Mondini dysplasia, abnormal malleus	Pendred syndrome	-	Unknown	-	-	-	-	-	Anne-Françoise Roux	00167473
0000132339	-	Pendred syndrome	-	Unknown	-	-	-	-	-	Anne-Françoise Roux	00167475
0000132341	Mondini dysplasia	Pendred syndrome	-	Unknown	-	-	-	-	-	Anne-Françoise Roux	00167477
0000132350	-	Pendred syndrome	-	Unknown	-	-	-	-	-	Anne-Françoise Roux	00167486
0000132351	-	Pendred syndrome	-	Unknown	-	-	-	-	-	Anne-Françoise Roux	00167487
0000132356	-	Pendred syndrome	-	Unknown	-	-	-	-	-	Anne-Françoise Roux	00167492
0000132361	-	Pendred syndrome	-	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00167497
0000132377	-	Pendred syndrome	-	Unknown	-	-	-	-	-	Anne-Françoise Roux	00167513
0000132380	-	Pendred syndrome	-	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00167516
0000132381	-	Pendred syndrome	-	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00167517
0000132382	-	Pendred syndrome	-	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00167518
0000132384	-	Pendred syndrome	-	Unknown	-	-	-	-	-	Anne-Françoise Roux	00167520
0000132385	-	Pendred syndrome	-	Unknown	-	-	-	-	-	Anne-Françoise Roux	00167521
0000132393	Mild hypothyroidism, bilateral renal atrophy, PDT positive, Age 45 years old	Pendred syndrome	-	Unknown	-	-	-	-	-	Anne-Françoise Roux	00167529
0000132394	Hypothyroidism, No goiter, PDT positive, low IQ, language disturbances, Age 44 years old	Pendred syndrome	-	Unknown	-	-	-	-	-	Anne-Françoise Roux	00167530
0000132395	Subclinical hypothyroidism, DPT positive, Age 42 years old	Pendred syndrome	-	Unknown	-	-	-	-	-	Anne-Françoise Roux	00167531
0000132397	Mondini dysplasia	Pendred syndrome	-	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00167533
0000132398	Mondini dysplasia	Pendred syndrome	-	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00167534
0000132399	Vertigo	Pendred syndrome	-	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00167535
0000132400	Vertigo, Mondini dysplasia	Pendred syndrome	-	Unknown	-	-	-	-	-	Anne-Françoise Roux	00167536
0000132401	Vertigo, Mondini dysplasia	Pendred syndrome	-	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00167537
0000132405	-	Pendred syndrome	-	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00167541
0000132413	Mondini dysplasia	Pendred syndrome	-	Unknown	-	-	-	-	-	Anne-Françoise Roux	00167549
0000132414	-	Pendred syndrome	-	Unknown	-	-	-	-	-	Anne-Françoise Roux	00167550
0000132416	Nodular goiter, hypothyroidism, cochlear dysplasia, PDT positive.	Pendred syndrome	-	Unknown	-	-	-	-	-	Anne-Françoise Roux	00167552
0000132417	Nodular goiter, hypothyroidism, PDT positive	Pendred syndrome	-	Unknown	-	-	-	-	-	Anne-Françoise Roux	00167553
0000132418	Nodular goiter, hypothyroidism, PDT positive	Pendred syndrome	-	Unknown	-	-	-	-	-	Anne-Françoise Roux	00167554
0000132419	Nodular goiter, congenital hypothyroidism, PDT positive	Pendred syndrome	-	Unknown	-	-	-	-	-	Anne-Françoise Roux	00167555
0000132420	Nodular goiter, hypothyroidism, PDT positive, high thyroglobulin	Pendred syndrome	-	Unknown	-	-	-	-	-	Anne-Françoise Roux	00167556
0000132421	Cochlear dysplasia, congenital hypothyroidism, PDT positive, No goiter, high thyroglobulin	Pendred syndrome	-	Unknown	-	-	-	-	-	Anne-Françoise Roux	00167557
0000132422	Cochlear dysplasia, congenital hypothyroidism, PDT positive, high thyroglobulin	Pendred syndrome	-	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00167558
0000132423	Cochlear dysplasia, nodular goiter, congenital hypothyroidism, high thyroglobulin, PDT negatine	Pendred syndrome	-	Unknown	-	-	-	-	-	Anne-Françoise Roux	00167559
0000132424	Nodular goiter, congenital hypothyroidism, PDT not done	Pendred syndrome	-	Unknown	-	-	-	-	-	Anne-Françoise Roux	00167560
0000132425	Nodular thyroid, subclinical hypothyroidism, PDT positive	Pendred syndrome	-	Unknown	-	-	-	-	-	Anne-Françoise Roux	00167561
0000132426	Nodular goiter, hypothyroidism, PDT positive	Pendred syndrome	-	Unknown	-	-	-	-	-	Anne-Françoise Roux	00167562
0000132427	Hypothyroidism, PDT not done	Pendred syndrome	-	Unknown	-	-	-	-	-	Anne-Françoise Roux	00167563
0000132428	Cochlear dysplasia, congenital hypothyroidism, No goiter, PDT negative, high thyroglobulin	Pendred syndrome	-	Unknown	-	-	-	-	-	Anne-Françoise Roux	00167564
0000132429	Cochlear hypoplasia, nodular goiter, hypothyroidism, high thyroglobulin, PDT negative	Pendred syndrome	-	Familial, autosomal recessive	-	-	-	-	-	Anne-Françoise Roux	00167565
0000132430	Nodular euthyeoid goiter, high thyroglobulin, PDT negative	Pendred syndrome	-	Unknown	-	-	-	-	-	Anne-Françoise Roux	00167566
0000132431	Papillary microcarcinoma, No goiter, euthyroid, PDT not done	Pendred syndrome	-	Unknown	-	-	-	-	-	Anne-Françoise Roux	00167567
0000132432	Nodular euthyroid goiter, PDT not done	Pendred syndrome	-	Unknown	-	-	-	-	-	Anne-Françoise Roux	00167568
0000132433	Nodular goiter, hypothyroidism, high thuroglobulin, PDT negative	Pendred syndrome	-	Unknown	-	-	-	-	-	Anne-Françoise Roux	00167569
0000132434	Cochlear dysplasia, nodular euthyroid goiter, PDT positive, high thyroglobulin	Pendred syndrome	-	Unknown	-	-	-	-	-	Anne-Françoise Roux	00167570
0000132450	PDT negative	Pendred syndrome	-	Unknown	-	-	-	-	-	Anne-Françoise Roux	00167586
0000132452	PDT positive	Pendred syndrome	-	Unknown	-	-	-	-	-	Anne-Françoise Roux	00167588
0000132468	PDT negative	Pendred syndrome	-	Unknown	-	-	-	-	-	Anne-Françoise Roux	00167604
0000132470	Follicular variant of papillary thyroid carcinoma, hypothyroidism, high thyroglobulin.	Pendred syndrome	-	Unknown	-	-	-	-	-	Anne-Françoise Roux	00167606
0000132471	Euthyroid multinodular goiter,high thyroglobulin	Pendred syndrome	-	Unknown	-	-	-	-	-	Anne-Françoise Roux	00167607
0000132479	Mondini dysplasia, hyperthyroidism	Pendred syndrome	-	Unknown	-	-	-	-	-	Anne-Françoise Roux	00167615
0000132480	Mondini dysplasia, hyperthyroidism	Pendred syndrome	-	Unknown	-	-	-	-	-	Anne-Françoise Roux	00167616
0000132481	Hyperthroidism	Pendred syndrome	-	Unknown	-	-	-	-	-	Anne-Françoise Roux	00167617
0000132482	Hyperthyroidism, PDT positive	Pendred syndrome	-	Unknown	-	-	-	-	-	Anne-Françoise Roux	00167618
0000132483	PDT positive	Pendred syndrome	-	Unknown	-	-	-	-	-	Anne-Françoise Roux	00167619

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Global Variome shared LOVD

DYNC2H1 (dynein, cytoplasmic 2, heavy chain 1)