All individuals with variants in gene FAM20C

48 entries on 1 page. Showing entries 1 - 48.
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00000069 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000070 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00081365 - Kay, submitted EJHG - - - Peru - - - - - HD - 1 1 Chris Kay
00263973 - - - - - - - - - - - - - 1 1 Carmen Palacios-Reyes
00264098 Pat1 PubMed: Simpson 2007 - M no - - <10d - - - RNS gestation 37w; survived <10d; prominent forehead, proptosis, midfacial hypoplasia, depressed nasal bridge, osteosclerosis, periosteal bone formation, thoracic hypoplasia, pulmonary hypoplasia 2 1 Johan den Dunnen
00264099 Pat2 PubMed: Simpson 2007, PubMed: Kingston 1991 - M yes United Kingdom (Great Britain) - <00y00m10d - - - RNS see paper; ..., gestation 37w; survived <10d; prominent forehead, proptosis, midfacial hypoplasia, depressed nasal bridge, osteosclerosis, periosteal bone formation, thoracic hypoplasia, no pulmonary hypoplasia 1 1 Johan den Dunnen
00264100 Pat3 PubMed: Simpson 2007 - M yes - - <10d - - - RNS gestation 38w; survived <10d; prominent forehead, proptosis, midfacial hypoplasia, depressed nasal bridge, osteosclerosis, periosteal bone formation, thoracic hypoplasia, pulmonary hypoplasia 1 1 Johan den Dunnen
00264101 Pat4 PubMed: Simpson 2007, PubMed: Al-Gazali 2003 - M no United Arab Emirates - >00y00m10d - - - RNS see paper; ..., gestation 36w; survived >10d; prominent forehead, proptosis, midfacial hypoplasia, depressed nasal bridge, osteosclerosis, periosteal bone formation, no cerebral calcifications, thoracic hypoplasia, no pulmonary hypoplasia 1 1 Johan den Dunnen
00264102 Pat5 PubMed: Simpson 2007, PubMed: Hulskamp 2003 2-generation family, 3 affected sibs, unaffected heterozygous carrier parents F yes Germany Turkey <00y00m10d - - - RNS see paper; ..., gestation 32w; survived <10d; prominent forehead, proptosis, midfacial hypoplasia, depressed nasal bridge, osteosclerosis, periosteal bone formation, cerebral calcifications, thoracic hypoplasia, pulmonary hypoplasia 1 3 Johan den Dunnen
00264103 Pat6 PubMed: Simpson 2007 - F no - - >10d - - - RNS gestation 38w; survived >10d; prominent forehead, proptosis, midfacial hypoplasia, depressed nasal bridge, osteosclerosis, periosteal bone formation, cerebral calcifications, no thoracic hypoplasia, no pulmonary hypoplasia 2 1 Johan den Dunnen
00264104 Pat7 PubMed: Simpson 2007 - F no - - <10d - - - RNS gestation 32w; survived <10d; prominent forehead, proptosis, midfacial hypoplasia, depressed nasal bridge, osteosclerosis, periosteal bone formation, cerebral calcifications, thoracic hypoplasia, pulmonary hypoplasia 2 1 Johan den Dunnen
00264119 Case1 PubMed: Simpson 2009 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes United Kingdom (Great Britain) - - - - - RNS see paper; … 1 1 Johan den Dunnen
00264120 Case2 PubMed: Simpson 2009 2-generation family, 1 affected, unaffected heterozygous carrier fsther M no United Kingdom (Great Britain) - - - - - RNS see paper; … 2 1 Johan den Dunnen
00264121 FamPatII1/2 PubMed: Fradin 2011 2-generation family, 2 affected sister, unaffected heterozygous carrier parents F yes France - - - - - RNS see paper; … 1 2 Johan den Dunnen
00294385 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 21 Mohammed Faruq
00331432 09DG00774 PubMed: Maddirevula 2018 family M yes - Arab - - - - skeletal dysplasia Global developmental delay, Abnormal facial shape 1 1 LOVD
00379707 R0020 PubMed: Wan 2018 - ? - China Han Chinese - - - - retinal disease - 1 1 LOVD
00387998 patient PubMed: Bajaj 2021 2-generation family, 1 affected, unaffected parents F no India India 00y17m - - - RNS HP:0000453, HP:0000377, HP:0000212, HP:0005280, HP:0000218, HP:0000695, HP:0000248, HP:0000270, HP:0000463, HP:0008501; abnormal 32-week scan with clover-leaf skull, non-ossified nasal bone, midface hypoplasia, bulging eyelids and irregular contour of long bones; born at full-term, Apgar score 9/10, birth-weight 2900 g; noisy breathing, feeding difficulties due to right-sided choanal atresia, vital parameters and oxygen-saturation stable; weight 2.75 kg (Z 0 to -2), length 46 cm (Z 0 to -2), OFC32.5 cm (Z -1 to -2); osteopetrosis 1 1 Wei-Hong Lai
00401654 Pat3 PubMed: Thiele 2020 - F - Germany - - - - - HR - 2 1 Johan den Dunnen
00442079 LD11 PubMed: Gorospe 2004 - F - India - - - - - MLC see paper; ... 1 1 Johan den Dunnen
00443892 - - - F - - - - - - - RNS - 1 1 Ewelina Łazarczyk
00462237 Toraman - - F yes Turkey Turkish - - yes - Reticular dysgenesis Raine syndrome 1 1 Bayram Toraman
00462258 patient PubMed: Ababneh 2013 2-generation family, 1 affected, unaffected heterozygous first-cousin carrier parents M - Saudi Arabia - 00y08m - - - RNS see paper; ..., 8m-deceased 1 1 Johan den Dunnen
00462260 Fam1PatIV4/5/6 PubMed: Acevedo 2015 4-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives F;M yes Brazil - - - - - RNS see paper; ..., hypoplastic amelogenesis imperfecta (abnormal dental enamel formation), mild facial dysmorphism, no other obvious skeletal/growth abnormalities; mild hypophosphataemia and soft tissue ectopic mineralization 1 3 Johan den Dunnen
00462262 Fam2PatVI1/2 PubMed: Acevedo 2015 6-generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives M yes Brazil - - - - - RNS see paper; ..., hypoplastic amelogenesis imperfecta, tooth dentine abnormalities, facial dysmorphism, hypophosphataemia, soft tissue ectopic mineralization, no osteosclerosis 2 2 Johan den Dunnen
00462263 Pat1 PubMed: El-Dessouky 2020 2-generation family, affected fetus, unaffected heterozygous carrier first-cousin parents M yes Egypt - - - - - RNS see paper; ..., exorbitism, hypoplastic nose, midface hypoplasia; small mouth, down-curved corners; distinct pattern of intracranial calcification 1 1 Johan den Dunnen
00462264 Pat2 PubMed: El-Dessouky 2020 2-generation family, affected fetus (one of a twin), unaffected heterozygous carrier first-cousin parents F - Egypt - - - - - RNS see paper; ..., exorbitism, hypoplastic nose, midface hypoplasia; small mouth, down-curved corners; distinct pattern of intracranial calcification 1 1 Johan den Dunnen
00462265 Pat3 PubMed: El-Dessouky 2020 2-generation family, affected fetus, unaffected heterozygous carrier first-cousin parents M yes Egypt - - - - - RNS see paper; ..., exorbitism, hypoplastic nose, midface hypoplasia; small mouth, down-curved corners; distinct pattern of intracranial calcification 1 1 Johan den Dunnen
00462267 FamPatIII7/8/10;Pat6/7 PubMed: Elalaoui 2016, PubMed: Mameli 2020 3-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents F;M yes Morocco - - - - - KTZS see paper; ..., learning disability, seizures and amelogenesis imperfecta 1 3 Johan den Dunnen
00462268 patient PubMed: Eltan 2020 - M no Turkey - - - - - RNS see paper; ..., hypophosphatemia; prenatal ultrasound nasal bone agenesis; large anterior fontanel, frontal bossing, exophthalmos, hypoplastic nose, high arched palate, low set ears, triangular mouth, corneal opacification 2 1 Johan den Dunnen
00462269 patient PubMed: Eras 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Turkey - - - - - RNS see paper; ..., underdeveloped midface, flattened forehead, small nose, depressed nasal bridge, anteverted nares, small mouth, narrow palate, epicanthal fold; choanal atresia/stenosis; pectus excavatum, bulbous fingertips; osteosclerosis in the ribs and costovertebral joints; no fractures; intracerebral calcifications; no seizures; hearing loss 1 1 Johan den Dunnen
00462270 FamPatII1/2 PubMed: Hernandez-Zavala 2020 2-generation family, affected brother/fetus (2M), unaffected heterozygous carrier parents M - Mexico - - - - - RNS see paper; ..., generalized osteosclerosis 2 2 Johan den Dunnen
00462271 patient PubMed: Mamedova 2019 - F - Russian Federation Armenia - - - - RNS see paper; ..., pain extremities, osteosclerosis with periosteal bone formation, multiple calcifications in solid organs, midface hypoplasia, exophthalmos, amelogenesis imperfecta, shortening distal phalanges, pectus excavatum, hypophosphatemia due to renal phosphate wasting 2 1 Johan den Dunnen
00462272 Pat1;Pat4 PubMed: Sheth 2018, PubMed: Mameli 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes India - - - - - RNS see paper; ..., facial dysmorphy, delayed speech, delayed cognition; radiography small sclerotic areas lower part right femur, abnormally-shaped skull with minimal sclerosis lower occipital region 2 1 Johan den Dunnen
00462273 patient;Pat5 Journal: Mahmood 2014, PubMed: Mameli 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Pakistan - - - - - RNS see papers; ... 1 1 Johan den Dunnen
00462274 Pat1 PubMed: Mameli 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Italy Pakistan - - - - RNS see paper; ... 1 1 Johan den Dunnen
00462275 Pat2 PubMed: Mameli 2020 2-generation family, 2 affected, unaffected heterozygous carrier parents M yes Italy Pakistan - - - - RNS see paper; ... 1 2 Johan den Dunnen
00462276 Pat3 PubMed: Mameli 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Pakistan - - - - - RNS see paper; ... 1 1 Johan den Dunnen
00462277 patient PubMed: Rafaelsen 2013 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M - Norway - - - - - RNS see paper; ..., hypophosphatemia, dental anomalies, ectopic calcification 2 2 Johan den Dunnen
00462278 patient PubMed: Rolvien 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Germany - - - - - ? see paper; ..., progressive spontaneous osteonecrosis knee; high bone mass lumbar spine/hip 2 1 Johan den Dunnen
00462279 patient PubMed: Tamai 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Japan - - - - - RNS see paper; ..., pyriform aperture stenosis; fetus characteristic cerebral hyperechogenicity, hypoplastic nose; craniofacial abnormalities, intracranial calcification, osteosclerosis, chondrodysplasia punctata 1 1 Johan den Dunnen
00462280 patient PubMed: Takeyari 2014 2-generation family, 1 affected, unaffected heterozygous carrier first-cousin parents M yes Japan - - - - - ? see paper; ..., hypophosphatemic osteomalacia, bone sclerosis; cortical hyperostosis, increased lumbar and femoral bone mineral densities 1 1 Johan den Dunnen
00462281 patient Whyte 1985 Abs ASHG 37:A82, PubMed: Whyte 2017 2-generation family, 2 affected sisters, unaffected parents F - United States - - - - - ? see paper; ..., congenital sclerosing osteomalacia with cerebral calcification (MIM 259660); 2 2 Johan den Dunnen
00462282 patient PubMed: Hung 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Ecuador - - - - - RNS see paper; ..., 1d-deceased (progressive hypoxemia with intermittent worsening bradycardia); birth cyanotic 1 1 Johan den Dunnen
00462283 patient PubMed: Seidahmed 2015 4-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives F;M yes Saudi Arabia - - - - - RNS - 1 3 Johan den Dunnen
00462285 patient PubMed: Kochar 2010 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes India - - - - - RNS see paper; ..., low birth weight, microcephaly, sclerosis of skull, intracranial calcifications, cranial sutures, ridged, fontanelles, delayed closure (large), clover leaf skull, prominent forehead, low set ears, prominent eyes/proptosis, entropion of eyelids, choanal atresia/stenosis, small/short nose, depressed/flat nasal bridge, flat face, mid facial hypoplasia, mandible, general abnormalities, small mandible/micrognathia, hypoplastic maxilla (excluding malar region), open mouth appearance, long philtrum, cleft palate, narrow thorax, lung hypoplasia, hydronephrosis, bowed femur/tibia, osteosclerosis, cortical hyperostosis, wide metaphysic 1 1 Johan den Dunnen
00462286 patient PubMed: Lulla 2021 - F - India - - - - - RNS see paper; ..., lethal osteosclerotic bone dysplasia 1 1 Johan den Dunnen
00462287 051-022-CYB PubMed: Boissel 2017 - M - Canada - - - - - ? see paper; ..., 25gw-brachycephaly, exophthalmos, short nose with depressed root, broad clavicles, belt-shaped thorax, increased density long bones/base skull, brain calcification 2 1 Johan den Dunnen
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