Disease #00234 (TS14 (Temple syndrome (TS-14, upd(14)mat)))

Official abbreviation TS14
Name Temple syndrome (TS-14, upd(14)mat)
OMIM ID -
Inheritance -
Individuals reported having this disease 14
Phenotype entries for this disease 13
Associated with 0 genes -
Associated tissues -
Disease features -
Remarks -
Date created 2013-10-09 19:34:25 +02:00 (CEST)
Date last edited 2021-12-11 13:56:28 +01:00 (CET)


Individuals

14 entries on 1 page. Showing entries 1 - 14.
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00027206 - PubMed: Poole 2013 - M no United Kingdom (Great Britain) - - - - - TS14 see paper; ...; no small hand (-HP:0200055); - - - 1 Johan den Dunnen
00027219 - PubMed: Kagami 2008 mother of patient FamAIII1 F no Japan - >36y - - - TS14 karyotype 46XX, present height 146 cm (SD-2,2), present weight 47.0 (SD-0.8), menarche at 10y3m (normal 12.25y +-1.25); birth 39w gestation, weight 2.1 kg (SD-2.5); puberty, precocious (HP:0000826); no intellectual disability (HP:0001249); no obesity (-HP:0001513); frontal bossing (HP:0002007); prenatal growth retardation (HP:0001511); postnatal growth retardation (HP:0008897); shallow orbits (HP:0000586); small hand (HP:0200055); no hypothyroidism (-HP:0000821); no scoliosis (HP:0002650) - - 1 1 Masayo Kagami
00027220 - PubMed: Kagami 2008 father patient FamAII2 M ? Japan - >62y - - - TS14 karyotype 46XY, present height 145.0 cm (SD-2.9), present weight 61.0 kg (SD-0.1); no intellectual disability (HP:0001249); obesity (HP:0001513); frontal bossing (HP:0002007); postnatal growth retardation (HP:0008897); shallow orbits (HP:0000586); small hand (HP:0200055); no hypothyroidism (-HP:0000821); no scoliosis (HP:0002650) - - 1 1 Masayo Kagami
00027221 - PubMed: Kagami 2008 mother of patient FamBIII1 F no Japan - >28y - - - TS14 karyotype 46XX, present height 135.0 cm (SD-4.4), present weight 38.0 kg (SD-1.9), menarche 12y1m (normal); birth 40w gestation, length 45.3 cm (SD-2.4), weight 2.3 kg (SD-2.2); no puberty, precocious (-HP:0000826); no intellectual disability (HP:0001249); no obesity (-HP:0001513); frontal bossing (HP:0002007); prenatal growth retardation (HP:0001511); postnatal growth retardation (HP:0008897); small hand (HP:0200055); no hypothyroidism (-HP:0000821); no scoliosis (HP:0002650) - - 1 1 Masayo Kagami
00100510 Patient TS 2 PubMed: Beygo 2017, Journal: Beygo 2017 - F no - Tunisian and Lebanese - - - - TS14 see paper; ...; normal birth lenght, weight and head circumference; puberty, precocious (HP:0000826); obesity (HP:0001513); no small hand (-HP:0200055); - - 1 1 Jasmin Beygo
00100511 Patient TS 3 PubMed: Beygo 2017, Journal: Beygo 2017 - M no - white - - - - TS14 see paper; ...; low birth measurements; no small hand (-HP:0200055); - - 3 1 Jasmin Beygo
00100513 Patient TS 5 PubMed: Beygo 2017, Journal: Beygo 2017 - M no - - - - - - TS14 see paper; ...; puberty, precocious (HP:0000826); obesity (HP:0001513); no small hand (-HP:0200055); - - 2 1 Jasmin Beygo
00100514 Patient TS 7 PubMed: Beygo 2017, Journal: Beygo 2017 - M no Germany - - - - - TS14 see paper; ...; low birth measurements; no small hand (-HP:0200055); - - 1 1 Jasmin Beygo
00100516 Patient TS 8 PubMed: Beygo 2017, Journal: Beygo 2017 - M - - - - - - - TS14 see paper; ...; birth measurements within normal range; no small hand (-HP:0200055); - - 1 1 Jasmin Beygo
00100517 Patient TS 9 PubMed: Beygo 2017, Journal: Beygo 2017 - F no Germany - - - - - TS14 see paper; ...; birth measurements within normal range; puberty, precocious (HP:0000826); obesity (HP:0001513); no small hand (-HP:0200055); - - 1 1 Jasmin Beygo
00100518 Patient TS 14 PubMed: Beygo 2017, Journal: Beygo 2017 - F no Germany - - - - - TS14 see paper; ...; birth measurements within normal range; puberty, precocious (HP:0000826); obesity (HP:0001513); no small hand (-HP:0200055); - - 1 1 Jasmin Beygo
00100519 Patient TS 15 PubMed: Beygo 2017, Journal: Beygo 2017 - F - Turkey - - - - - TS14 see paper; ...; low birth weight and lenght; puberty, precocious (HP:0000826); obesity (HP:0001513); no small hand (-HP:0200055); - - 2 1 Jasmin Beygo
00305554 - - - F no Germany - - - - - TS14 - NLRP7 NLRP7 1 1 Thomas Eggermann
00403690 family PubMed: Sabria-Back 2022, 2-generation family, affected mother/child F - Spain - - - - - TS14 see paper; ..., short stature (adult height 152 cm);, 7y-precocious puberty (with Decapeptyl GNRH agonist therapy until 13 years), high fasting blood sugar levels consistent with diabetes - DLK1, MEG3 1 2 Johan den Dunnen
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