All individuals with variants in gene ARCN1

19 entries on 1 page. Showing entries 1 - 19.
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00464283 323471 - - M no Germany - - - - - SSMG;SRMMD small for gestational age, short stature, pectus excavatum, motor delay, premature birth, intrauterine growth retardation, failure to thrive 1 1 Andreas Laner
00464286 Pat1 PubMed: Izumi 2016, Journal: Izumi 2016 2-generation family, 1 affected, unaffected non carrier parents F - Japan - - - - - ? see paper; ..., intrauterine growth retardation; micrognathia; no cleft palate; tracheostomy; congenital heart disease, ventricular septal defect; short stature; rhizomelic shortening; joint laxity; developmental delay; no autism; no seizure; microcephaly 1 1 Johan den Dunnen
00464287 Pat2 PubMed: Izumi 2016, Journal: Izumi 2016 2-generation family, 1 affected, unaffected non carrier parents M - Singapore - - - - - ? see paper; ..., intrauterine growth retardation; micrognathia; no cleft palate; tracheostomy; no congenital heart disease; cryptorchidism; short stature; no rhizomelic shortening; joint laxity; developmental delay; autism; seizure; no microcephaly 1 1 Johan den Dunnen
00464288 Pat3 PubMed: Izumi 2016, Journal: Izumi 2016 2-generation family, affected father/daughter, unaffected non carrier paternal grandparents M - Belgium - - - - - ? see paper; ..., intrauterine growth retardation; micrognathia; no cleft palate; no tracheostomy; no congenital heart disease; no cryptorchidism; short stature; rhizomelic shortening; no joint laxity; developmental delay; no autism; no seizure; microcephaly 1 1 Johan den Dunnen
00464289 Pat4 PubMed: Izumi 2016, Journal: Izumi 2016 daughter F - Belgium - - - - - ? see paper; ..., intrauterine growth retardation; micrognathia; cleft palate; no tracheostomy; no congenital heart disease; short stature; rhizomelic shortening; joint laxity; developmental delay; no autism; no seizure; microcephaly 1 1 Johan den Dunnen
00464290 patient PubMed: Reunert 2019, Journal: Reunert 2019 2-generation family, 1 affected, unaffected non carrier parents M no Germany - - - - - CDG see paper; ..., 1 1 Johan den Dunnen
00464291 patient PubMed: Tidwell 2020, Journal: Tidwell 2020 2-generation family, 1 affected, unaffected non carrier parents M no United States white;Peru;native American - - - - ? see paper; ..., microcephaly, severe global developmental delay; ventricular septal defect, patent foramen ovale, rhizomelic shortening extremities, pectus carinatum, underdeveloped genitalia (severe penoscrotal hypospadias, cryptorchidism); distinctive facial features, bulbous nasal tip, microretrognathia, downturned corners mouth 1 1 Johan den Dunnen
00464302 PatC1 PubMed: Ritter 2022, Journal: Ritter 2022 2-generation family, 1 affected, unaffected non carrier parents M - United States - - - - - ? see paper; ..., birth 32w+5; intrauterine growth restriction; micrognathia; microcephaly; cleft palate; no tracheostomy; no congenital heart disease; hypospadius, bifid scrotum, cryptorchidism; no cataract; short stature; no rhizomelic shortening; no joint laxity; developmental delay/intellectual disability; no autism; no seizure; carbohydrate deficient transferrin abnormalities; liver function abnormalities; no hepatoblastoma 1 1 Johan den Dunnen
00464303 PatC2 PubMed: Ritter 2022, Journal: Ritter 2022 2-generation family, 1 affected, unaffected non carrier parents F - United States - - - - - ? see paper; ..., birth 37w+2; intrauterine growth restriction; micrognathia; microcephaly; cleft palate; no tracheostomy; no congenital heart disease; no cataract; short stature; no rhizomelic shortening; no joint laxity; no developmental delay/intellectual disability; no autism; no seizure; carbohydrate deficient transferrin abnormalities; giant cell hepatitis; liver function abnormalities; no hepatoblastoma 1 1 Johan den Dunnen
00464304 PatC3 PubMed: Ritter 2022, Journal: Ritter 2022 2-generation family, 1 affected, unaffected non carrier parents M - United States - - - - - ? see paper; ..., birth 30w+6; intrauterine growth restriction; micrognathia; microcephaly; cleft palate; no tracheostomy; congenital heart disease (patent foramen ovale vs atrial septal defect); ambiguous genitalia, hypospadius; no cataract; short stature; no rhizomelic shortening; no joint laxity; developmental delay/intellectual disability; no autism; no seizure; carbohydrate deficient transferrin abnormalities; giant cell hepatitis; liver function abnormalities; no hepatoblastoma 1 1 Johan den Dunnen
00464305 PatC4 PubMed: Ritter 2022, Journal: Ritter 2022 2-generation family, 1 affected, unaffected non carrier parents F - United States - - - - - ? see paper; ..., birth 26w+6; intrauterine growth restriction; micrognathia; microcephaly; no cleft palate; no tracheostomy; no congenital heart disease; bilateral central cortical cataract; short stature; rhizomelic shortening; no joint laxity; mild developmental delay/intellectual disability; no autism; no seizure; no carbohydrate deficient transferrin abnormalities; giant cell hepatitis; liver function abnormalities; no hepatoblastoma 1 1 Johan den Dunnen
00464306 PatD1 PubMed: Ritter 2022, Journal: Ritter 2022 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - ? see paper; ..., birth 38w; intrauterine growth restriction; micrognathia; microcephaly; no cleft palate; no tracheostomy; congenital heart disease (patent foramen ovale, patent ductus arteriosus); small penis; Mittendorf dot vs posterior polar cataract; short stature; rhizomelic shortening; no joint laxity; developmental delay/intellectual disability; no autism; no seizure; no carbohydrate deficient transferrin abnormalities; no giant cell hepatitis; liver function abnormalities (due to treatment for neuromyelitis optica); no hepatoblastoma 1 1 Johan den Dunnen
00464307 PatT1 PubMed: Ritter 2022, Journal: Ritter 2022 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - ? see paper; ..., birth 37w; intrauterine growth restriction; micrognathia; microcephaly; no cleft palate; tracheostomy; no congenital heart disease; no cataract; short stature; no rhizomelic shortening; joint laxity; no developmental delay/intellectual disability; no autism; no seizure; no carbohydrate deficient transferrin abnormalities; no giant cell hepatitis; normal liver function; no hepatoblastoma 1 1 Johan den Dunnen
00464308 PatF1 PubMed: Ritter 2022, Journal: Ritter 2022 2-generation family, affected mother with several affected fetuses, unaffected parents F - United States - - - - - ? see paper; ..., birth 36w; intrauterine growth restriction; micrognathia; no microcephaly; cleft palate; no tracheostomy; no congenital heart disease; no cataract; short stature; rhizomelic shortening; no joint laxity; no developmental delay/intellectual disability; no autism; no seizure; no hepatoblastoma 1 2 Johan den Dunnen
00464309 PatN1 PubMed: Ritter 2022, Journal: Ritter 2022 2-generation family, 1 affected, unaffected non carrier parents F - Norway - - - - - ? see paper; ..., birth 30w; intrauterine growth restriction; micrognathia; no microcephaly; cleft palate, bifid uvula; no tracheostomy; no congenital heart disease; no cataract; short stature; no rhizomelic shortening; no joint laxity; developmental delay/intellectual disability, speech delay; no autism; no seizure; no giant cell hepatitis; liver function abnormalities; hepatoblastoma 1 1 Johan den Dunnen
00464310 PatJ1 PubMed: Ritter 2022, Journal: Ritter 2022 2-generation family, 1 affected, unaffected parents F - Japan - - - - - ? see paper; ..., birth 31w+1; intrauterine growth restriction; micrognathia; microcephaly; no cleft palate; no tracheostomy; no congenital heart disease; unspecified cataract; short stature; rhizomelic shortening; developmental delay/intellectual disability; no autism; no seizure; no giant cell hepatitis; normal liver function; no hepatoblastoma 1 1 Johan den Dunnen
00464311 fetus PubMed: Ritter 2022, Journal: Ritter 2022 affected fetus - - - - <0d - - - ? see paper; ..., fetus; intrauterine growth restriction; micrognathia; microcephaly; rhizomelic shortening 1 1 Johan den Dunnen
00464312 fetus PubMed: Ritter 2022, Journal: Ritter 2022 affected fetus - - - - <0d - - - ? see paper; ..., 21gw-aborted fetus; generalized decreased bone density skull, brachycephaly, narrow thorax, short narrow ribs, bilateral short upper/lower extremities, foreshortened humeri, radius, ulna, femori, and tibia; intrauterine growth restriction; micrognathia; microcephaly; rhizomelic shortening 1 1 Johan den Dunnen
00464313 fetus PubMed: Ritter 2022, Journal: Ritter 2022 affected fetus - - - - <0d - - - ? see paper; ..., 25-gw-fetal demise; shortened humeri, forearms, femurs, and tibula/fibula; micrognathia; bell-shaped thorax; intrauterine growth restriction; micrognathia; microcephaly; rhizomelic shortening 1 1 Johan den Dunnen
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