All individuals with variants in gene RPL13

20 entries on 1 page. Showing entries 1 - 20.
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00266391 Fam1Pat1 PubMed: Le Caignec 2019 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - SEMD no short prenatal length (<2SD); short stature; genu varum; no scoliosis; no hyperlaxity; no cone-rod dystrophy; no myopia; no deafness; no anemia; platyspondyly; shortened long bones; metaphyseal involvement; lower limbs epiphyseal changes; no upper limbs epiphyseal changes; coxa vara; no short phalanges hand 1 1 Johan den Dunnen
00266392 Fam2Patt1 PubMed: Le Caignec 2019 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - SEMD no short prenatal length (<2SD); short stature; genu varum; scoliosis; no hyperlaxity; no cone-rod dystrophy; no myopia; no deafness; no anemia; platyspondyly; shortened long bones; metaphyseal involvement; lower limbs epiphyseal changes; no upper limbs epiphyseal changes; coxa vara; no short phalanges hand 1 1 Johan den Dunnen
00266393 Fam3Pat1 PubMed: Le Caignec 2019 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - SEMD no short prenatal length (<2SD); short stature; genu varum; no scoliosis; no hyperlaxity; no cone-rod dystrophy; no myopia; no deafness; no anemia; platyspondyly; bowed femora; shortened long bones; metaphyseal involvement; lower limbs epiphyseal changes; upper limbs epiphyseal changes; coxa vara; no short phalanges hand 1 1 Johan den Dunnen
00266394 Fam4Pat1 PubMed: Le Caignec 2019 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - SEMD no short prenatal length (<2SD); mild short stature; genu varum; no scoliosis; no hyperlaxity; no cone-rod dystrophy; no myopia; no deafness; no anemia; platyspondyly; bowed femora; shortened long bones; metaphyseal involvement; lower limbs epiphyseal changes; no upper limbs epiphyseal changes; coxa vara; no short phalanges hand 1 1 Johan den Dunnen
00291600 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 44 Mohammed Faruq
00291601 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 42 Mohammed Faruq
00304549 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00464068 321298 - - M ? Turkey - - - - - SEMDIST Short stature, Hyperlordosis, Disproportionate short stature; father and grandfather affected 1 1 Andreas Laner
00469819 Fam1PatII6;? PubMed: Jacob 2023, PubMed: Jacob 2025 3-generation family, 8 affected (3F, 5M) M - India - - - - - skeletal dysplasia see paper; ..., short stature, height SD-5.0; no chest anomalies; genu varum; no patellar luxation; joint hyper laxity 1 8 Johan den Dunnen
00469820 Fam2PatII2;? PubMed: Jacob 2023, PubMed: Jacob 2025 2-generation family, 1 affected, unaffected non-carrier parents M - India - - - - - skeletal dysplasia see paper; ..., short stature, height SD-0.6; mild pectus excavatum; no scoliosis; coxa vara; no genu varum; no patellar luxation; no joint hyper laxity 1 1 Johan den Dunnen
00469915 Fam1PatII5 PubMed: Jacob 2023 brother M - India Asia - - - - skeletal dysplasia see paper; ..., short stature, height SD-5.8; no chest anomalies; unilateral genu varum; no patellar luxation; joint hyper laxity 1 1 Johan den Dunnen
00469916 Fam1PatIII4 PubMed: Jacob 2023 son M - India Asia - - - - skeletal dysplasia see paper; ..., short stature, height SD-3.5; mild pectus carinatum; no scoliosis; coxa vara; genu varum; no patellar luxation; joint hyper laxity 1 1 Johan den Dunnen
00469917 Fam3Pat PubMed: Jacob 2023 2-generation family, 1 affected, unaffected non-carrier parents F - Brazil mixed - - - - skeletal dysplasia see paper; ..., short stature, height SD-3.9; no chest anomalies; no scoliosis; severe coxa vara; genu varum; no patellar luxation; no joint hyper laxity 1 1 Johan den Dunnen
00469918 Fam4PatII1 PubMed: Jacob 2023 2-generation family, affected sister/brother, unaffected non-carrier parents (likely germline mosaicism) F - Turkey - - - - - skeletal dysplasia see paper; ..., short stature, height SD-1.2; no chest anomalies; no scoliosis; mild coxa vara; no genu varum; patellar luxation; no joint hyper laxity 1 2 Johan den Dunnen
00469919 Fam4PatII4 PubMed: Jacob 2023 brother M - Turkey - - - - - skeletal dysplasia see paper; ..., short stature, height SD-2.5; pectus excavatum; mild scoliosis; mild coxa vara; no genu varum; no patellar luxation; no joint hyper laxity; pes planus 1 1 Johan den Dunnen
00469920 Fam5PatIII1 PubMed: Jacob 2023 2-generation family, affected mother/daughter F - - Europe-N - - - - skeletal dysplasia see paper; ..., short stature, height SD-3.1; mild pectus excavatum; no scoliosis; coxa vara; genu varum; patellar luxation; no joint hyper laxity 1 2 Johan den Dunnen
00469921 Fam5PatII2 PubMed: Jacob 2023 daughter F - - Europe-N - - - - skeletal dysplasia see paper; ..., short stature, height SD-1.2; no chest anomalies; no scoliosis; mild coxa vara; genu varum; no patellar luxation; no joint hyper laxity; hip replacement surgery, arthrosis 1 1 Johan den Dunnen
00469922 Fam6PatII1 PubMed: Jacob 2023 2-generation family, 1 affected, somatci mosaicism father M - - Hispanic - - - - skeletal dysplasia see paper; ..., short stature, height SD-2.4; no chest anomalies; no scoliosis; mild coxa vara; no genu varum; no patellar luxation; joint hyper laxity; mild genu valgum, pes planus 1 1 Johan den Dunnen
00469923 Fam7PatIII2 PubMed: Jacob 2023 3-generation family, 5 affected (grandmother, mother, 2 half-brothers, half-sister) M - South Africa - - - - - skeletal dysplasia see paper; ..., short stature, height SD-3.2; no chest anomalies; no scoliosis; no coxa vara; no genu varum; no patellar luxation; joint hyper laxity; genu valgum, pes planus 1 5 Johan den Dunnen
00469924 Fam7PatIII3 PubMed: Jacob 2023 sister F - South Africa - - - - - skeletal dysplasia see paper; ..., short stature, height SD-3.2; no chest anomalies; no scoliosis; no coxa vara; genu varum; no patellar luxation; joint hyper laxity; pes planus 1 1 Johan den Dunnen
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