All individuals with variants in gene IRX5

9 entries on 1 page. Showing entries 1 - 9.
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00107879 FamTurPatIII4 PubMed: Bonnard 2012 3-generation family, 2 affected deceased brothers, unaffected heterozygous carrier parents/relatives M yes Turkey - - - - - HMMS no craniosynostosis; brachycephaly; no bulging midface; laterally sparse eyebrows; severe telecanthus/hypertelorism; broad nasal bridge/pointed nasal tips/anteverted nostrils; high arched palate; smooth/long philtrum; thin upper vermillion border/wide mouth; low-set/ear abnormalities; no bilateral preauricular tags; no mild micrognathia; low posterior hair line/extra frontal hair whorl; pterygium colli/slopping shoulder; syndactyly/tapering fingers/long toes/5th finger clinodactyly; total A-V canal; inguinal hernia; cryptorchidism and absence of gonad activity 1 2 Johan den Dunnen
00107880 FamJorPatIII1 PubMed: Bonnard 2012 2-generation family, 3 affected sibs, unaffected heterozygous carrier parents/relatives (F, 2M) M yes Jordan - - - - - HMMS craniosynostosis; brachycephaly; bulging midface; laterally sparse eyebrows; severe telecanthus/hypertelorism; severe progressive myopia; absence/dysfunction of nasolacrimal structures; no dysfunction of parotid glands; broad nasal bridge/pointed nasal tips/anteverted nostrils; high arched palate; smooth/long philtrum; thin upper vermillion border/wide mouth; loss of lamina dura; thin enamel/enamel hypoplasia; low-set/ear abnormalities; no bilateral preauricular tags; sensori neural hearing impairment; mild micrognathia; low posterior hair line/extra frontal hair whorl; generalized osteopenia; long bone fractures; hip dysplasia; no pectus excavatum; pterygium colli/slopping shoulder; no syndactyly/tapering fingers/long toes/5th finger clinodactyly; thumb deviation/ectopic finger creases/long fingers/short index; tiny patent ductus arteriosus; no mild mitral regurgitation; no atrial septal defect; intraventricular conduction delay; no total A-V canal; inguinal hernia; no hypoparathyroidism; cryptorchidism and absence of gonad activity; microcytic hypochromic anemia; moderate psychomotor retardation; unclear speech 1 3 Johan den Dunnen
00307950 15DG0633 PubMed: Anazi 2017 familial M - - - - - - - ID see paper; ..., Global developmental delay, Autism, Epicanthus, Downslanted palpebral fissures, Microtia, Short neck, Abnormal facial shape 1 1 Johan den Dunnen
00329220 FamTurPatIII5 PubMed: Bonnard 2012 brother M yes Turkey - - - - - HMMS no craniosynostosis; brachycephaly; no bulging midface; laterally sparse eyebrows; severe telecanthus/hypertelorism; severe progressive myopia; absence/dysfunction of nasolacrimal structures; no dysfunction of parotid glands; broad nasal bridge/pointed nasal tips/anteverted nostrils; high arched palate; smooth/long philtrum; thin upper vermillion border/wide mouth; loss of lamina dura; thin enamel/enamel hypoplasia; worn out teeth/malocclusion/hypodontia; low-set/ear abnormalities; bilateral preauricular tags; sensori neural hearing impairment; no mild micrognathia; low posterior hair line/extra frontal hair whorl; no generalized osteopenia; long bone fractures; hip dysplasia; no pectus excavatum; no pterygium colli/slopping shoulder; syndactyly/tapering fingers/long toes/5th finger clinodactyly; thumb deviation/ectopic finger creases/long fingers/short index; no tiny patent ductus arteriosus; no mild mitral regurgitation; no atrial septal defect; intraventricular conduction delay; no total A-V canal; inguinal hernia; hypoparathyroidism; cryptorchidism and absence of gonad activity; microcytic hypochromic anemia; swallowing difficulties; moderate psychomotor retardation; unclear speech 1 1 Johan den Dunnen
00329221 FamJorPatIII2 PubMed: Bonnard 2012 brother M yes Jordan - - - - - HMMS craniosynostosis; brachycephaly; bulging midface; laterally sparse eyebrows; severe telecanthus/hypertelorism; severe progressive myopia; absence/dysfunction of nasolacrimal structures; dysfunction of parotid glands; broad nasal bridge/pointed nasal tips/anteverted nostrils; high arched palate; smooth/long philtrum; thin upper vermillion border/wide mouth; loss of lamina dura; thin enamel/enamel hypoplasia; low-set/ear abnormalities; no bilateral preauricular tags; sensori neural hearing impairment; mild micrognathia; low posterior hair line/extra frontal hair whorl; generalized osteopenia; long bone fractures; hip dysplasia; pectus excavatum; pterygium colli/slopping shoulder; no syndactyly/tapering fingers/long toes/5th finger clinodactyly; thumb deviation/ectopic finger creases/long fingers/short index; no tiny patent ductus arteriosus; mild mitral regurgitation; no atrial septal defect; intraventricular conduction delay; no total A-V canal; inguinal hernia; no hypoparathyroidism; cryptorchidism and absence of gonad activity; microcytic hypochromic anemia; moderate psychomotor retardation; unclear speech 1 1 Johan den Dunnen
00329222 FamJorPatIII4 PubMed: Bonnard 2012 sister F yes Jordan - - - - - HMMS craniosynostosis; brachycephaly; bulging midface; laterally sparse eyebrows; severe telecanthus/hypertelorism; no severe progressive myopia; absence/dysfunction of nasolacrimal structures; broad nasal bridge/pointed nasal tips/anteverted nostrils; high arched palate; smooth/long philtrum; thin upper vermillion border/wide mouth; low-set/ear abnormalities; no bilateral preauricular tags; sensori neural hearing impairment; mild micrognathia; low posterior hair line/extra frontal hair whorl; generalized osteopenia; long bone fractures; hip dysplasia; pterygium colli/slopping shoulder; no syndactyly/tapering fingers/long toes/5th finger clinodactyly; thumb deviation/ectopic finger creases/long fingers/short index; no tiny patent ductus arteriosus; no mild mitral regurgitation; atrial septal defect; intraventricular conduction delay; no total A-V canal; no inguinal hernia; microcytic hypochromic anemia; moderate psychomotor retardation; unclear speech 1 1 Johan den Dunnen
00329224 patient PubMed: Roukoz 2019 - M yes Haiti - - - - - HMMS see paper; ... 1 1 Johan den Dunnen
00436376 HDAC8-Pat4 PubMed: Yuan 2019 2-generation family, 1 affected, unaffected non-carrier parents - - - - - - - - ?, CDLS - 2 1 Johan den Dunnen
00448017 G005492 PubMed: Carss 2017 patient F - - Europe - - - - retinal disease - 1 1 Johan den Dunnen
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