All individuals with variants in gene MEG3

8 entries on 1 page. Showing entries 1 - 8.
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AscendingIndividual ID     
ID_report     
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Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
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Owner     
00011680 - PubMed: Beygo 2014 2-generation family, PatII3 M yes Turkey - - - - - KOS14 see paper; ... 1 2 Thomas Eggermann
00017596 - PubMed: Beygo 2014 2-generation family, patII4 F yes Turkey - - - - - KOS14 see paper; ... 1 1 Thomas Eggermann
00017597 - PubMed: Beygo 2014 2-generation family, 1 affected (pat1) M no - - - - - - KOS14 see paper; ... 1 1 Johan den Dunnen
00027197 - PubMed: Kagami 2014 - M no Japan - - - - - SRS;RSS karyotype 46XY, birth length 46.5cm (-2.1 SD), birth weight 2.2 kg (-2.7 SD), birth occipitofrontal circumference 32.5cm (-0.7 SD); present height 120.4cm (-2.3 SD), present weight 26.5kg (-0.7 SD), BMI 18.3 (+1.0 SD), present occipitofrontal circumference 51.5cm (-0.9 SD); speech delayed (HP:0000750); small hands (HP:0200055); single palmar crease (HP:0000954); brachydactyly (HP:000156); clinodactyly (HP:0030084); joint hypermobility (HP:0001382); ear abnormality (HP:0000598); irregular teeth (HP:0040079); no precocious puberty (-HP:0000826); no intellectual disability (-HP:0001249); muscular hypotonia (HP:0001252); dysmorphic face (HP:0001999); prominent forehead (HP:0011220) 5 1 Johan den Dunnen
00027198 - PubMed: Kagami 2014 in vitro fertilization-embryo transfer F no Japan - - - - 7y-gonadotropin-releasing hormone analog (precocious puberty, breast development) SRS;RSS karyotpe 46XX, birth length 36.5cm (-6.0 SD), birth weight 1.2 kg (-4.6 SD), birth occipitofrontal circumference 30.0 cm (-2.0 SD); menarche 8y8m (normal 12.3y +/-1.3y); present height 125.5cm (-1.0 SD), present weight 22.3kg (-1.2 SD), BMI 14.2 (-1.1 SD), present occipitofrontal circumference 50.3cm (-1.5 SD); recurrent otitis media (HP:0000403); small hands (HP:0200055); no single palmar crease (-HP:0000954); no brachydactyly (-HP:000156); clinodactyly (HP:0030084); puberty, precocious (HP:0000826); no intellectual disability (-HP:0001249); no muscular hypotonia (-HP:0001252); dysmorphic face (HP:0001999); prominent forehead (HP:0011220) 5 1 Johan den Dunnen
00028649 - PubMed: Kagami 2010 - F no Ireland - - - - - KOS14 no polyhydramnios (-HP:0001561); no large placenta (-HP:0006267); birth 28w gestation, weight 1.32kg, length 34cm; prenatal overgrowth (HP:0003517); frontal bossing (HP:0002007); frontal hirsutism (HP:0011335); no blepharophimosis (-HP:0000581); small ears (HP:0008551); no anteverted nares (-HP:0000463); no full cheeks (-HP:0000293); normal lips; micrognathia (HP:0000347); webbed neck (HP:0000465); bell-shaped thorax (HP:0001591); coat hanger sign ribs (HP:0006665); abdominal wall defect (HP:0010866); normal; no contractures (-HP:0001371); no coxa valga (-HP:0002673); patent ductus arteriosus (HP:0001643); omphalocele (HP:0001539); no seizures (-HP:0001250); no flat nasal bridge (-HP:0005280); normal philtrum (-HP:0000288); no scoliosis (-HP:0002650) 1 1 Masayo Kagami
00403690 family PubMed: Sabria-Back 2022, 2-generation family, affected mother/child F - Spain - - - - - TS14 see paper; ..., short stature (adult height 152 cm);, 7y-precocious puberty (with Decapeptyl GNRH agonist therapy until 13 years), high fasting blood sugar levels consistent with diabetes 1 2 Johan den Dunnen
00403691 family PubMed: Sabria-Back 2022 child - - Spain - 00y00m74d - - - KOS14 see papr; ..., 74d-deceased respiratory and infectious complications; prenatal omphalocele, severe polyhydramnios; 26w gestation amniodrainage required to avoid premature delivery, uterine contractions, cervical shortening; placental abruption requiring emergency Caesarean section; birth weight 760g; after birth silo applied to contain omphalocele, 4d-surgical correction completed; 0d-macroglossia,large philtrum, hypersialorrhea, bell-shaped thorax, coat-hanger ribs 1 1 Johan den Dunnen
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