All individuals with variants in gene EFNB1

66 entries on 1 page. Showing entries 1 - 66.
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00000209 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml) 1 1 Yu Sun
00003094 - Van den Elzen, submitted to European Journal of Human Genetics - F no - white - - - - CFND;CFNS - 1 1 Jacqueline Goos
00003095 - Van den Elzen, submitted to European Journal of Human Genetics; PubMed: Kapusta 1992, PubMed: Twigg 2006 - F no - white - - - - CFND;CFNS Sprengel deformity; coronal craniosynostosis (left/right); no cleft lip; no cleft palate; no duplex thumb/hallux; no agenesis corpus callosum 1 1 Jacqueline Goos
00003096 - Van den Elzen, submitted to European Journal of Human Genetics; - F no - white - - - - CFND;CFNS - 1 1 Jacqueline Goos
00003097 - Van den Elzen, submitted to European Journal of Human Genetics; - F no - white - - - - CFND;CFNS - 1 1 Jacqueline Goos
00003098 - Van den Elzen, submitted to European Journal of Human Genetics; - F no - white - - - - CFND;CFNS - 1 1 Jacqueline Goos
00003099 - Van den Elzen, submitted to European Journal of Human Genetics; - F no - white - - - - CFND;CFNS - 1 1 Jacqueline Goos
00003100 - Van den Elzen, submitted to European Journal of Human Genetics; - F no - white - - - - CFND;CFNS - 1 1 Jacqueline Goos
00003101 - Van den Elzen, submitted to European Journal of Human Genetics, PubMed: Kapusta 1992, PubMed: Twigg 2006 - F no - white - - - - CFND;CFNS coronal craniosynostosis (left/right); no cleft lip; no cleft palate; no duplex thumb/hallux; no agenesis corpus callosum 1 1 Jacqueline Goos
00003102 - Van den Elzen, submitted to European Journal of Human Genetics, PubMed: Kapusta 1992 - F no - white - - - - CFND;CFNS - 1 1 Jacqueline Goos
00003103 - Van den Elzen, submitted to European Journal of Human Genetics, PubMed: Twigg 2006 - F no - white - - - - CFND;CFNS no coronal craniosynostosis (left/right); no cleft lip; cleft palate (uvula); duplex thumb right; agenesis corpus callosum; developmental delay 1 1 Jacqueline Goos
00003104 - Van den Elzen, submitted to European Journal of Human Genetics - F no - white - - - - CFND;CFNS - 1 1 Jacqueline Goos
00003105 - Van den Elzen, submitted to European Journal of Human GeneticsPubMed: Kapusta 1992, PubMed: Twigg 2006 - M no - white - - - - CFND;CFNS - 1 1 Jacqueline Goos
00003106 - Van den Elzen, submitted to European Journal of Human Genetics, PubMed: Kapusta 1992, PubMed: Twigg 2006 family, 3 affecteds (2F, M) F no - white - - - - CFND;CFNS coronal craniosynostosis (left/right); no cleft lip; no cleft palate; no duplex thumb/hallux; no agenesis corpus callosum; developmental delay 1 3 Jacqueline Goos
00003107 - Van den Elzen, submitted to European Journal of Human Genetics - F no - white - - - - CFND;CFNS - 1 1 Jacqueline Goos
00003108 - Van den Elzen, submitted to European Journal of Human Genetics, PubMed: Twigg 2006 - F no - white - - - - CFND;CFNS no coronal craniosynostosis (left/right); no cleft lip; no cleft palate; no duplex thumb/hallux 1 1 Jacqueline Goos
00003109 - Van den Elzen, submitted to European Journal of Human Genetics, PubMed: Twigg 2006 family, 3 affected females F no - South-american - - - - CFND;CFNS Sprengel deformity; coronal craniosynostosis (left/right); no cleft lip; no cleft palate; no duplex thumb/hallux; no agenesis corpus callosum 1 3 Jacqueline Goos
00003110 - Van den Elzen, submitted to European Journal of Human Genetics; - F - - South-American - - - - CFND;CFNS - 1 1 Jacqueline Goos
00003111 - Van den Elzen, submitted to European Journal of Human Genetics - F no - white - - - - CFND;CFNS - 1 1 Jacqueline Goos
00003112 - Van den Elzen, submitted to European Journal of Human GeneticsPubMed: Kapusta 1992, PubMed: Twigg 2006 - F no - white - - - - CFND;CFNS - 1 1 Jacqueline Goos
00003113 - Van den Elzen, submitted to European Journal of Human GeneticsPubMed: Kapusta 1992, PubMed: Twigg 2006 - F - - white - - - - CFND;CFNS - 1 1 Jacqueline Goos
00003114 - PubMed: Twigg 2013, Journal: Twigg 2013 - F no - white - - - - CFND;CFNS coronal craniosynostosis R (HP:0004440), hypertelorism (HP:0000316), grooved nasal tip (HP:0000456), no down slanting palpebral fissures (-HP:0000494), unilateral cleft lip (HP:0100333), cleft palate (HP:0000175), no agenesis corpus callosum (-HP:0001274), mild learning disability (HP:0001328), no Sprengel deformity (-HP:0000912), grooved nails (HP:0001807), no brachydactyly (-HP:0001156), syndactyly 2nd-3rd toes L (HP:0004691), no clinodactyly (-HP:0030084), no low set ears (-HP:0000369), wiry hair, ptosis (HP:0000508), no undescended testes (-HP:0000028), small ASD-resolved spontaneously, sloping shoulders, umbilical hernia (HP:0001537) 1 1 Jacqueline Goos
00003115 - Van den Elzen, submitted to European Journal of Human Genetics, PubMed: Twigg 2006 - F no - white - - - - CFND;CFNS coronal craniosynostosis left; no cleft lip; no cleft palate; duplex hallux right; no agenesis corpus callosum; developmental delay 1 1 Jacqueline Goos
00003116 - Van den Elzen, submitted to European Journal of Human Genetics - F - - white - - - - CFND;CFNS - 1 1 Jacqueline Goos
00003117 - PubMed: Kwee 1983, PubMed: Twigg 2013, Journal: Twigg 2013 - M no Netherlands white - - - - CFND;CFNS coronal craniosynostosis R/L (HP:0004440), hypertelorism (HP:0000316), grooved nasal tip (HP:0000456), nodown slanting palpebral fissures (HP:0000494), high arched palate (HP:0002705), agenesis corpus callosum (HP:0001274), mild learning disability (HP:0001328), Sprengel deformity (HP:0000912), grooved nails (HP:0001807), brachydactyly (-HP:0001156) delta phalanx digit one right hand, syndactyly 2nd-3rd toes L (HP:0004691), no clinodactyly (-HP:0030084), low set ears (-HP:0000369), no wiry hair, ptosis (HP:0000508) left eye only, undescended testes R/L (HP:0000028), mild pectus excavatum, duplication of distal phalanx R thumb, postaxial polydactyly type B R hand, R inguinal hernia 1 1 Jacqueline Goos
00003125 19377111-Pat? PubMed: Tarpey 2009 only summary data are given - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00003126 19377112-Pat? PubMed: Tarpey 2009 only summary data are given - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00003196 - PubMed: Twigg 2006 - F - - - - - - - CFND;CFNS no coronal craniosynostosis (left/right); no cleft lip; no cleft palate; no duplex thumb/hallux; no agenesis corpus callosum 1 1 Johan den Dunnen
00003197 - PubMed: Twigg 2006 family, 2 affected females F - - - - - - - CFND;CFNS coronal craniosynostosis (left/right); no cleft lip; no cleft palate; no duplex thumb/hallux; no agenesis corpus callosum; hypertrophic cardiomyopathy 1 2 Johan den Dunnen
00003198 - PubMed: Twigg 2006 family, 2 affecteds (F, M) - - - - - - - - CFND;CFNS coronal craniosynostosis right; no cleft lip; no cleft palate; no duplex thumb/hallux; agenesis corpus callosum; duplex kidney; Bartholin cyst 1 2 Johan den Dunnen
00003199 - PubMed: Twigg 2006 - F - - - - - - - CFND;CFNS no coronal craniosynostosis (left/right); no cleft lip; no cleft palate; duplex hallux left; partial agenesis corpus callosum 1 1 Johan den Dunnen
00003200 - PubMed: Twigg 2006 family, 5 affecteds (4F, M) - - - - - - - - CFND;CFNS coronal craniosynostosis left; no cleft lip; no cleft palate; no duplex thumb/hallux; no agenesis corpus callosum; diaphragmatic hernia (son) 1 5 Johan den Dunnen
00003201 - PubMed: Twigg 2006 family, 2 affecteds (F, M) - - - - - - - - CFND;CFNS coronal craniosynostosis right; no cleft lip; no cleft palate; no duplex thumb/hallux; no agenesis corpus callosum 1 2 Johan den Dunnen
00003202 - PubMed: Twigg 2006 - F - - - - - - - CFND;CFNS no coronal craniosynostosis (left/right); no cleft lip; no cleft palate; no duplex thumb/hallux; no agenesis corpus callosum 1 1 Johan den Dunnen
00003203 - PubMed: Twigg 2006 family, 2 affected females F - - - - - - - CFND;CFNS no coronal craniosynostosis (left/right); no cleft lip; no cleft palate; no duplex thumb/hallux 1 2 Johan den Dunnen
00003204 - PubMed: Twigg 2006 - F - - - - - - - CFND;CFNS coronal craniosynostosis left; cleft lip; cleft palate; duplex hallux left/right; partial agenesis corpus callosum; developmental delay 1 1 Johan den Dunnen
00003205 - PubMed: Twigg 2006 - F - - - - - - - CFND;CFNS coronal craniosynostosis left; no cleft lip; no cleft palate; no duplex thumb/hallux; no agenesis corpus callosum; intracranial dermoid; double uterus 1 1 Johan den Dunnen
00003206 - PubMed: Twigg 2006 - F - - - - - - - CFND;CFNS coronal craniosynostosis (left/right); cleft lip; cleft palate; no duplex thumb/hallux; no agenesis corpus callosum 1 1 Johan den Dunnen
00003207 - PubMed: Twigg 2006 family, 2 affecteds (F, M) - - - - - - - - CFND;CFNS coronal craniosynostosis left; no cleft lip; no cleft palate; no duplex thumb/hallux 1 2 Johan den Dunnen
00003208 - PubMed: Twigg 2006 - F - - - - - - - CFND;CFNS coronal craniosynostosis (left/right); no cleft lip; no cleft palate; duplex hallux right; no agenesis corpus callosum 1 1 Johan den Dunnen
00003209 - PubMed: Twigg 2006 - F - - - - - - - CFND;CFNS coronal craniosynostosis right; no cleft lip; no cleft palate; no duplex thumb/hallux; partial agenesis corpus callosum; duplex left kidney 1 1 Johan den Dunnen
00003210 - PubMed: Twigg 2006 - F - - - - - - - CFND;CFNS coronal craniosynostosis left; no cleft lip; no cleft palate; no duplex thumb/hallux; no agenesis corpus callosum; ulnar clinodactyly right middle finger 1 1 Johan den Dunnen
00003211 - PubMed: Twigg 2006 family, 4 affecteds (3F, M) - - - - - - - - CFND;CFNS coronal craniosynostosis (left/right); no cleft lip; no cleft palate; no duplex thumb/hallux; no agenesis corpus callosum 1 4 Johan den Dunnen
00003212 - PubMed: Twigg 2006 - F - - - - - - - CFND;CFNS coronal craniosynostosis (left/right); no cleft lip; no cleft palate; no duplex thumb/hallux; no agenesis corpus callosum; cerebellar dysplasia; vesico-ureteric reflux 1 1 Johan den Dunnen
00003213 - PubMed: Twigg 2006 family, 2 affecteds (F, M) - - - - - - - - CFND;CFNS coronal craniosynostosis (left/right); no cleft lip; no cleft palate; no duplex thumb/hallux; no agenesis corpus callosum 1 2 Johan den Dunnen
00003214 - PubMed: Twigg 2006 - F - - - - - - - CFND;CFNS no coronal craniosynostosis (left/right); no cleft lip; no cleft palate; duplex hallux left; partial agenesis corpus callosum; developmental delay 1 1 Johan den Dunnen
00003215 - PubMed: Twigg 2006 family, 2 affecteds (F, M) - - - - - - - - CFND;CFNS coronal craniosynostosi; cleft lip; cleft palate; no duplex thumb/hallux; no agenesis corpus callosum; diaphragmatic hernia; sacrococcygeal teratoma (son) 1 2 Johan den Dunnen
00003216 - PubMed: Twigg 2006 - F - - - - - - - CFND;CFNS coronal craniosynostosis right; no cleft lip; cleft palate; no duplex thumb/hallux; no agenesis corpus callosum 1 1 Johan den Dunnen
00003217 - PubMed: Twigg 2006 family, 5 affecteds (4F, M) - - - - - - - - CFND;CFNS - 1 5 Johan den Dunnen
00003218 - PubMed: Twigg 2006 - F - - - - - - - CFND;CFNS no cleft lip; no cleft palate; no duplex thumb/hallux; agenesis corpus callosum; developmental delay 1 1 Johan den Dunnen
00003219 - PubMed: Twigg 2006 - F - - - - - - - CFND;CFNS coronal craniosynostosis right; no cleft lip; no cleft palate; no duplex thumb/hallux; no agenesis corpus callosum 1 1 Johan den Dunnen
00003220 - PubMed: Twigg 2006 - F - - - - - - - CFND;CFNS coronal craniosynostosi; no cleft lip; no cleft palate; no duplex thumb/hallux; no agenesis corpus callosum 1 1 Johan den Dunnen
00003221 - PubMed: Twigg 2006 family, 2 affected females F - - - - - - - CFND;CFNS coronal craniosynostosis left; no cleft lip; no cleft palate; no duplex thumb/hallux; no agenesis corpus callosum; diaphragmatic hernia right 1 2 Johan den Dunnen
00003222 - PubMed: Twigg 2006 - F - - - - - - - CFND;CFNS coronal craniosynostosis right; no cleft lip; no cleft palate; no duplex thumb/hallux; no agenesis corpus callosum; bilateral dysplastic hips 1 1 Johan den Dunnen
00003223 - PubMed: Twigg 2006 family, 2 affected females F - - - - - - - CFND;CFNS coronal craniosynostosis left; no cleft lip; no cleft palate; no duplex thumb/hallux; partial agenesis corpus callosum; mother bicornuate uterus 1 2 Johan den Dunnen
00003224 - PubMed: Twigg 2006 - F - - - - - - - CFND;CFNS coronal craniosynostosis right; no cleft lip; no cleft palate; no duplex thumb/hallux; agenesis corpus callosum; sensorineural hearing loss 1 1 Johan den Dunnen
00003225 - PubMed: Twigg 2006 - F - - - - - - - CFND;CFNS coronal craniosynostosis (left/right); no cleft lip; no cleft palate; no duplex thumb/hallux; agenesis corpus callosum 1 1 Johan den Dunnen
00003226 - PubMed: Twigg 2006 - F - - - - - - - CFND;CFNS coronal craniosynostosis right; no cleft lip; no cleft palate; no duplex thumb/hallux; no agenesis corpus callosum 1 1 Johan den Dunnen
00003227 - PubMed: Twigg 2006 family, 4 affected females F - - - - - - - CFND;CFNS coronal craniosynostosis left; no cleft lip; no cleft palate; no duplex thumb/hallux; developmental delay 1 4 Johan den Dunnen
00003233 - PubMed: Wieland 2004 3-generation family, 3 affected females, 2 carrier males (1 not, 1 mildly affected) - no - white - - - - CFND;CFNS hypertelorism, craniofacial abnormalities (orbital asymmetry), normal mental performance, no behavioral abnormalitiesnormal body height; III1-hypertelorism, bifid nasal tip, grooved nails, axillary pterygium, slight pterygium colli; I2/II6, hypertelorism, grooved nails; male carriers II3/II5 hypertelorism 1 5 Johan den Dunnen
00003234 - PubMed: Wieland 2004 5-generation family, 5 affected females, 3 carrier males - no - - - - - - CFND;CFNS hypertelorism, orbital asymmetry, brachycephaly, brachydactyly, Sprengel deformity, normal mental performance, no behavioral abnormalitiesnormal body height; III6 had four miscarriages (mid-pregnancy), uterus arcuatus, curly hair, grooved finger nails, unilateral breast hypoplasia; III2 (male) phenotypic abnormalities; V3 (male) broad nasal bridge (9y inner canthel distance 3.8 cm) 1 8 Johan den Dunnen
00003235 - PubMed: Wieland 2004 3-generation family, affected mother/daugther, carrier grandfather - no - - - - - - CFND;CFNS normal mental performance, no behavioral abnormalitiesnormal body height; I1 (male) slight facial asymmetry, broad nasal bridge; II1 severe facial asymmetry, hypertelorism, hypoplasia corpus callosum; III2 facial asymmetry, hypertelorism, agenesis corpus callosum, complete syndactyly left 3/4th finger, scoliosis 1 3 Johan den Dunnen
00019820 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - F no Spain - - - - - CFND;CFNS - 1 1 Karen E. Heath
00152529 - - - - - - - - - - - CRS unicoronal synostosis, left (HP:0011315) 1 1 Anshuman Sewda
00152530 - - - - - - - - - - - CRS sagittal craniosynostosis (HP:0004442) 1 1 Anshuman Sewda
00208761 - - - M - Germany - - - - - - HP:0001263 (Global developmental delay); HP:0012759 (Neurodevelopmental abnormality); HP:0001999 (Abnormal facial shape) 1 1 Andreas Laner
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