All individuals with variants in gene RECQL4

49 entries on 1 page. Showing entries 1 - 49.
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AscendingIndividual ID     
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Population     
Age at death     
VIP     
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Treatment     
Disease     
Phenotype details     
Variants     
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Owner     
00000344 - - carrier father/mother M - - Mexican - - - - RTS2 - 2 1 Ivo F.A.C. Fokkema
00000345 - - carrier father/mother F - - Mexican - - - - RTS2 - 2 1 Ivo F.A.C. Fokkema
00000346 - - - ? - - European - - - - RTS2 - 2 1 Ivo F.A.C. Fokkema
00004160 - PubMed: Colombo 2014, Journal: Colombo 2014 - F no Italy - - - - - RTS2 see paper; two siblings with a mild phenotype, mainly restricted to the skin, ... 2 1 Elisa Adele Colombo
00049848 - - - M no Switzerland Cacasian >17y - - - RTS2 Poikiloderma, short stature 2 1 Sabina Gallati, Prof.
00049865 - - - F no Denmark white >44y - - - RTS2 poikiloderma, telangiectatic lesions, punctate atrophy, alopecia, saddle nose, short ulnae, osteopenia, short stature, squamous cell carcinoma, basal cell carcinoma 2 1 Sabina Gallati, Prof.
00049866 - - - M no (United Kingdom (Great Britain)) white >13y - - - RTS2 , poikiloderme, erythema, telangiectatic lesions, hyperkeratosis, alopecia, short stature, impaired neurocognitive development, chronic diarrhoea 2 1 Sabina Gallati, Prof.
00049867 - - - F no United Kingdom (Great Britain) white >09y - - - RTS2 poikiloderma, microdontia, abnormalities of the long bones, short stature, delayed motor development, nutritional problems, osteosarcoma 2 1 Sabina Gallati, Prof.
00049868 - - - M no (Switzerland) white >08y - - - RTS2 poikiloderma, erythema, telangiectatic lesions, hyperkeratosis, alopecia, cataract, frontal bossing, short stature 2 1 Sabina Gallati, Prof.
00049869 - - - F no Greece white >11y - - - RTS2 poikiloderma, erythema, telangiectatic lesions, pachyonychia, delayed dentition, hypoplastic teeth, saddle nose, joint pain, slow weight gain, impaired neurocognitive development 2 1 Sabina Gallati, Prof.
00049870 - - - M yes (Spain) - >05y - - - RTS2 multiple café-au-lair spots, skeletal lesions, linear growth deficiency, chronic diarrhoea 1 1 Sabina Gallati, Prof.
00049871 - - - M no (Germany) white >12y - - - RTS2 - 2 1 Sabina Gallati, Prof.
00049872 - - - F no United Kingdom (Great Britain) white >13y - - - RTS2 multiple café-au-lair spots, abnormalities of the long bones, hypo plastic thumbs, short stature 2 1 Sabina Gallati, Prof.
00049873 - - - M no France white >16y - - - RTS2 poikiloderma 2 1 Sabina Gallati, Prof.
00049880 - - - M no Australia white >04y - - - RTS2 alopecia, bilateral elbow/knee dislocations, hypoplastic thumbs, failure to thrive, chronic diarrhoea 4 1 Sabina Gallati, Prof.
00049884 - - - F ? (Ireland) white >08y - - - RTS2 - 2 1 Sabina Gallati, Prof.
00049885 - - - M no Netherlands white >27y - - - RTS2 alopecia, dystrophic nails, osteopenia, short stature, gastrointestinal symptoms during infancy 2 1 Sabina Gallati, Prof.
00050652 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - - Decipher - ? poikiloderma, sparse scalp hair 1 1 Johan den Dunnen
00080908 - PubMed: Trujillano 2017 no information from parents - - - - - - - - RTS2 Rothmund-Thomson syndrome (OMIM:268400) 1 1 Daniel Trujillano
00132285 - - affected F no China Asian 05y06m - - - RTS2 - 2 2 Baoheng Gui
00132286 - - affected F no China Asian 00y10m - - - RTS2 - 2 1 Baoheng Gui
00132288 - - affected M no China Asian 04y06m - - - RTS2 - 2 1 Baoheng Gui
00154496 - - - M ? Ecuador - >19y - - - RTS2 poikiloderma on face, limbs and buttocks; hyperkeratosis on palms, soles and knukles; onychodystophy; sparse eyebrows; keratoconus; low bone density. 1 1 Elisa Adele Colombo
00154499 - - - F no Italy - >32y - - - RTS2 Poikiloderma, growth delay, plantar hyperkeratosis, photosensitivity, sparse hair, eyelashes, eyebrows, onychodystrophy, dental defects, osteosclerosis and cystic-like lesions, diarrhea, food intolerance in infancy. Her younger brother died for osteosarcoma at 18y. 1 2 Elisa Adele Colombo
00154500 - - - M yes Turkey - >16y - - - RTS2 Poikiloderma, hyperkeratosis on palms and joints, dental defects, recurrent middle ear infections, IgA deficiency, knee arthritis 1 1 Elisa Adele Colombo
00154501 - - - F ? (Belgium) - >38y - - - RTS2 Growth delay, plantar hyperkeratosis, sparse hair, eyelashes and eyebrows, enamel defects, osteopenia, diarrhea in infancy, hypogonadism, chronic anemia, hyperferritinemia, hypercholesterolemia, no poikiloderma but only white nodular lesions on the skin and swelling. She had alveolar rhabdomyosarcoma at 12y 1 1 Elisa Adele Colombo
00246562 - PubMed: Fostira 2020 - - - Greece - - - - - cancer, breast family history; no triple-negative breast cancer; 46y first breast cancer; 63y ovarian cancer 1 1 Florentia Fostira
00294596 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 24 Mohammed Faruq
00294597 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 27 Mohammed Faruq
00294598 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00294599 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 4 Mohammed Faruq
00294600 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00294601 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00295585 - - - F - - - - - - - ? Breast carcinoma (HP:0003002) 1 1 Andreas Laner
00296566 - - - F - - - - - - - ? Neoplasm by anatomical site (HP:0011793); Breast carcinoma (HP:0003002) 1 1 Andreas Laner
00305185 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00385532 17026533 PubMed: Lenassi 2020 retrospective analysis M - (United Kingdom (Great Britain)) - - - - - retinal disease - 1 1 LOVD
00399242 Pat1 PubMed: Martin 2017 2-generation family, 1 affected, unaffected non-carrier parents M no - - - - - - ID see paper; ..., prenatal period unremarkable pregnancy after IVF, birth 40w, weight 3,755 g (62P), length 53 cm (59P); neonatal stiffness (stiff baby syndrome), irritability, excessive startle reflex; no congenital anomalies; normal postnatal growth; mild to moderate developmental delay; speech with dysarthria; MRI brain normal; interaction with adults, reduced attention span, tension with irritability, anxiety; muscle hyperekplexia with exaggerated head-retraction reflex, stiffness, hypertonia; difficulties walking in straight line, stiff gait, ability to run; no seizures, but severe contraction burst in relation to trauma; large ears; EEG normal; sleeping problems in childhood 2 1 Johan den Dunnen
00406992 - PubMed: Jiang 2022 analysis 486 colorectal cancer patients - - China - - - - - cancer, colon - 1 2 Johan den Dunnen
00414527 - - - F - Spain - - - - - cancer, breast - 1 1 Ana Osorio
00414528 - - - F - Spain - - - - - cancer, breast - 1 1 Ana Osorio
00414529 - - - F - Spain - - - - - cancer, breast - 1 1 Ana Osorio
00414530 - - - F - Spain - - - - - cancer, breast - 1 1 Ana Osorio
00414531 - - - F - Spain - - - - - cancer, breast - 1 1 Ana Osorio
00414536 - - - F - Spain - - - - - cancer, breast - 1 1 Ana Osorio
00414537 - - - F - Spain - - - - - cancer, breast - 1 1 Ana Osorio
00430353 MINAS_05 - - F ? Brazil - - - - - MINAS Well-differentiated pancreatic neuroendocrine tumor (HP:0002894); Follicular variant of papillary thyroid carcinoma (HP:0002890) 1 1 Giovana Torrezan
00433146 Pat127,1 PubMed: Stray-Pedersen 2017 - F - Norway - - - - - IMD immuno-osseous dysplasia, chromosomal disorder and other syndromic primary immunodeficiency diseases 2 1 Johan den Dunnen
00443720 UCDMX002_S2 - - M - Mexico Mexican - - - - cancer, colon - 1 1 Leticia Angélica Barraza Arellano
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