All individuals with variants in gene SEC24D

14 entries on 1 page. Showing entries 1 - 14.
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00051532 FamPatIV5 PubMed: Micheal 2016, Journal: Micheal 2016 4-generation family, 4 affecteds (2F, 2M), unaffected heterozygous carrier parents M yes Pakistan - - - - - BCS2 see paper, brittel cornea syndrome, ... 1 4 Shazia Micheal
00225690 25558065-Fam12DG2051 PubMed: Alazami 2015, Journal: Alazami 2015 4-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives F;M yes Saudi Arabia - - - - - ? see paper; …, intellectual disability and epilepsy 1 3 Johan den Dunnen
00361554 12DG2051 PubMed: Anazi 2017 familial M yes Saudi Arabia - - - - - ID not syndromic; intellectual disability, seizures 1 1 Johan den Dunnen
00372775 - PubMed: Garbes 2015 - - - - - - - - - CLCRP see paper; ..., severely disturbed ossification skull, multiple fractures, short stature, craniofacial malformations, macrocephaly, midface hypoplasia, micrognathia, frontal bossing, down-slanting palpebral fissures 2 1 Raymond Dalgleish
00372776 - PubMed: Zhang 2017 The proband also had dentinogenesis imperfecta. - - China - - - - - OI see paper; ..., bone fragility, osteopenia, dentinogenesis imperfecta 2 1 Raymond Dalgleish
00372777 - PubMed: Zhang 2017 The proband also had dentinogenesis imperfecta. - - China - - - - - OI see paper; ..., short stature, bone fragility, facial dysmorphism, broad ossification defect frontoapical area, widened sagittal suture, wormian bones, dentinogenesis imperfecta 2 1 Raymond Dalgleish
00372778 - PubMed: Garbes 2015 There were two affected fetuses in this family and a healthy sister heterozygous for the c.2933A>C variant. - - - - - - - - CLCRP see paper; ..., severely disturbed ossification of the skull and multiple fractures 2 1 Raymond Dalgleish
00472135 FamPatIV1/3/8 PubMed: Essawi 2026 4-generation family, 3 affected (brother/sister/brother), unaffected heterozygous carrier parents/relatives F;M yes Palestine - - - - - OI see paper; ..., congenital osteogenesis imperfecta (prenatal fractures); adult >50 fractures, osteopenia or osteoporosis, short stature, deformities upper/lower extremities, pectus deformity, wheelchair-bound, macrocephaly, frontal bossing, triangular face, dentinogenesis imperfecta, high-pitched voice 1 3 Johan den Dunnen
00472136 patient PubMed: Moosa 2016, 2-generation family, 1 affected, unaffected heterozygous carrier parents/ - - Germany China - - - - OI see paper; ..., 18wg-short long bones; neonatal blue-gray sclerae, osteopenia, Wormian bones, deformities long bones, no dysmorphic craniofacial features; 13m-coronal sutures patent, anterior fontanelle enlarged 2 1 Johan den Dunnen
00472137 patient PubMed: Takeyari 2018 2-generation family, 1 affected, unaffected heterozygous carrier mother M - Japan - - - - - OI see paper; ..., short stature, craniofacial abnormalities, prominent eye, micrognathia, short neck, scoliosis, chest deformity) ocularproptosis, marked frontal bossing, midface hypoplasia, micrognathia, low bone mineral density 2 1 Johan den Dunnen
00472138 patient PubMed: Miao 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F - China - - - - - OI, stature, short see paper; ..., craniofacial dysmorphism, recurrent fractures, no open anterior fontanelle, Wormian bones, no dentinogenesis imperfecta , hearing loss, short neck, short stature, scoliosis, chest deformity, bone fragility , cubitus valgus/genu valgum. long bone deformity, no lentigines, no mental retardation 2 1 Johan den Dunnen
00472174 PUMC-266 PubMed: Li 2020 patient, family history - no China - - - - - OI1 0y-first fracture,; 2 1 Xiuli Zhao
00472175 PUMC-204 PubMed: Li 2020 patient, no family history - no China - - - - - OI1 0.33y-first fracture, 6 fractures; height Z 0.31; no scoliosis; blue sclerae; dentinogenesis imperfecta; no hearing loss; able to walk 2 1 Xiuli Zhao
00472176 PUMC-514 PubMed: Li 2020 patient, no family history - no China - - - - - OI1 3y-first fracture, 37 fractures; height Z -7.01; scoliosis; blue sclerae; dentinogenesis imperfecta; no hearing loss; able to walk; no ptosis 2 1 Xiuli Zhao
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