All individuals with variants in gene EXOC6B

4 entries on 1 page. Showing entries 1 - 4.
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00053042 26669664-Fam PubMed: Girisha 2016, Journal: Girisha 2016 4-generation family, 2 affected brothers, unaffected heterozygous carrier parents M yes India - - - - - ? see paper; ..., spondyloepimetaphyseal dysplasia (SEMD), multiple joint dislocations at birth, severe joint laxity, scoliosis, gracile metacarpals and metatarsals, delayed bone age and poorly ossified carpal/tarsal bones 1 2 Fanny Kortüm
00403826 family PubMed: Campos-Xavier 2018 2-generation family, 2 affected sisters F - Switzerland - - - - - SEMDJL born with dislocations hips and knees; long, slender fingers with distal tapering; adolescents obese, significant motor disability, normal (older sister) or low-normal intelligence (younger sister) 1 2 Johan den Dunnen
00469780 FamPat1;? PubMed: Simsek-Kiper 2022, PubMed: Jacob 2025 3-generation family, 1 affected, unaffected heterozygous carrier parents F yes India - - - - - skeletal dysplasia see paper; ..., jaundice; difficulty walking, inability to squat; delay gross motor skills 1 1 Johan den Dunnen
00469895 FamPat2 PubMed: Simsek-Kiper 2022 3-generation family, 2 affected (2F) F yes Turkey - - - - - skeletal dysplasia see paper; ..., jaundice, difficulty walking, wheelchair. bound, scoliosis; delayed motor development, delayed mental development 1 1 Johan den Dunnen
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