All individuals with variants in gene MBTPS1

11 entries on 1 page. Showing entries 1 - 11.
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00465602 - PubMed: Lucas-Castro 2026, Journal: Lucas-Castro 2026 - M no Spain - - - - - SEDKF see paper; ..., 28wg-premature birth, weight 990g; 20y-height 113.5 cm, weight 26kg; pectus carinatum, protuberant abdomen, inguinal hernia, joint hypermobility, pes planus, cutis laxa, retromicrognathia; large ears, abnormal ears; cataract; craniosynostosis, no brachydactyly, genu valgo, valgus bowing tibia, hip dysplasia, kyphoscoliosis, osteopenia, spondyloepiphyseal dysplasia, no developmental delay, motor delay, no seizures 2 1 Elsa Lucas Castro
00474667 patient PubMed: Kondo 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F - United States - - - - - skeletal dysplasia see paper; ..., 6m-growth height/weight slowed down; 2y-delayed gross motor milestones, normal speech development, normal cognitive development; pectus carinatum, protuberant abdomen, inguinal hernia, no joint hypermobility, normal feet, no cutaneous manifestations, retromicrognathia; large ears, abnormal ears; cataract; no craniosynostosis, brachydactyly, no genu valgo, valgus bowing tibia, no hip dysplasia, kyphoscoliosis, osteopenia, spondyloepiphyseal dysplasia, no seizures 2 1 Johan den Dunnen
00474668 patient PubMed: Meyer 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Germany - - - - - SRS;RSS see paper; ..., clinical diagnosis Silver-Russell syndrome; height 162cm, weight 62kg; pes valgus, sandal grooves; no cutaneous manifestations; no retromicrognathia; large ears, abnormal ears; cataract; no craniosynostosis; no brachydactyly, no genu valgo; kyphoscoliosis; no developmental delay, motor delay, no seizures 1 1 Johan den Dunnen
00474670 patient PubMed: Carvalho 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Brazil - - - - - skeletal dysplasia see paper; ..., 34wg-premature birth, weight 1,970g (-Z-0.38), length 41 -cm (Z-1.13), FC 31 cm (Z-0.24); 3y-short stature, rhizomelic limb shortening, severe retromicrognathia; 5.7y-height 79cm, weight 9kg; pectus carinatum, protuberant abdomen, no inguinal hernia, no joint hypermobility, normal feet; no cutaneous manifestations; large ears, abnormal ears; cataract; craniosynostosis; no brachydactyly, no genu valgo, no valgus bowing tibia, no hip dysplasia, kyphosis, osteopenia, spondyloepiphyseal dysplasia, developmental delay, motor delay, seizures 1 1 Johan den Dunnen
00474671 patient PubMed: Alotaibi 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Saudi Arabia - - - - - skeletal dysplasia see paper; ..., birth at term; early motor development delay, 2y-sit, 3y-walk, speech delay, subnormal mentality; 10y-height 102cm, weight 16kg; pectus carinatum, protuberant abdomen, no inguinal hernia, no joint hypermobility; pes cavus; no cutaneous manifestations; retromicrognathia; large ears, abnormal ears; no cataract; no craniosynostosis; brachydactyly, genu valgo, valgus bowing tibia; hip dysplasia, kyphoscoliosis, osteopenia, spondyloepiphyseal dysplasia, developmental delay, no seizures 1 1 Johan den Dunnen
00474672 patient PubMed: Yuan 2023 2-generation family, 1 affected, unaffected heterozygous carrier parents M no China - - - - - skeletal dysplasia see paper; ..., short stature, special facial features, serious sleep apnea syndrome; 12y-height 137cm, weight 40kg; pectus carinatum, protuberant abdomen, inguinal hernia; joint hypermobility; normal feet; no cutaneous manifestations; retromicrognathia; large ears, abnormal ears; cataract; no craniosynostosis; no brachydactyly, no genu valgo, no valgus bowing tibia; no hip dysplasia, scoliosis, osteopenia, spondyloepiphyseal dysplasia, developmental delay, no seizures 2 1 Johan den Dunnen
00474674 patient PubMed: Chen 2023 2-generation family, 1 affected, unaffected heterozygous carrier parents M no China - - - - - skeletal dysplasia see paper; ..., birth at term; 4m-motor retardation, poor head-up, low muscular tension; 5.4y-height 99cm, weight 12.8kg; pectus carinatum, protuberant abdomen, no inguinal hernia; no joint hypermobility; normal feet; no cutaneous manifestations; retromicrognathia; large ears, abnormal ears; cataract; no craniosynostosis; no brachydactyly, no genu valgo, no valgus bowing tibia; no hip dysplasia, scoliosis, osteopenia, spondyloepiphyseal dysplasia, no developmental delay; motor delay; no seizures 2 1 Johan den Dunnen
00474675 Pat1 PubMed: Chen 2022chi 2-generation family, 1 affected, unaffected heterozygous carrier parents M - China - - - - - ? see paper; ..., skeletal dysplasia; mild follicular keratosis, ichthyosis, generalized alopecia, photophobia, red swollen gums, psoriasis‐like lesions, psoriasiform perivasculitis, paronychia;bilateral cataracts 2 1 Johan den Dunnen
00474677 Pat2 PubMed: Chen 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United States Hispanic - - - - ? see paper; ..., mild follicular keratosis, ichthyosis, generalized alopecia, photophobia, red and swollen gums, psoriasis‐like lesions, paronychia, psoriasiform perivasculitis, bilateral cataracts; developmental delay 2 1 Johan den Dunnen
00474679 patient PubMed: Raggio 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Uruguay - - - - - skeletal dysplasia see paper; ..., pectus carinatum, no protuberant abdomen, inguinal hernia; no joint hypermobility; pes varus; no cutaneous manifestations; retromicrognathia; large ears, abnormal ears; cataract; no craniosynostosis; brachydactyly, no genu valgo, no valgus bowing tibia; no hip dysplasia, kyphoscoliosis; spondyloepiphyseal dysplasia, no developmental delay; no motor delay; no seizures 2 1 Johan den Dunnen
00474682 patient PubMed: Schweitzer 2019 2-generation family, 1 affected, unaffected non-carrier parents F - United States - - - - - ? see paper; ..., focal myoedema (episodic, activity‐induced), myalgias, hyperCKemia, muscle fatigue, swelling; gastrointestinal hypomotility, ocular migraines, polycystic ovary syndrome 1 1 Johan den Dunnen
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