All individuals with variants in gene KIF5B

12 entries on 1 page. Showing entries 1 - 12.
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00398645 Pat1 PubMed: Itai 2022 2-generation family, 1 affected, unaffected non carrier parents F - Japan - - - - - dysplasia, bone see paper; ..., no intellectual disability; no developmental delay; no neurological symptoms; conductive hearing impairment, hyperopia; respiratory disorders in neonatal period; joint contracture knee/hip; talipes equinovarus; respiratory disorders in neonatal period; bitemporal constriction; arched eyebrows; hypertelorism; proptosis; ptosis; low-set, large ears; midface hypoplasia; depressed nasal bridge, upturned nares, thick nasal alae; tented upper lip; micrognathia; small mouth with thin upper lip; cleft palate; intermittent esotopia; no brachycephaly; narrow thorax; hooked clavicles; short, wavy ribs; anteriorly cupped ribs; no platyspondyly; no kyphoscoliosis; no large pedicles; iliac flaring; horizontal acetabular roof; limbs humeral bowing, radial bowing, no ulnar bowing, femoral bowing, tibial bowing, no fibular bowing, no bone spur, metaphyseal broadening, no pterygia, no stippled epiphysis, fracture; relatively long hands and feet; no short metacarpals; postnatal osteoporosis 1 1 Toshiyuki Itai
00398646 Pat2 PubMed: Itai 2022 2-generation family, 1 affected, unaffected non carrier parents F - Japan - - - - - dysplasia, bone see paper; ..., no intellectual disability; no developmental delay; febrile seizures, epilepsy; velopharyngeal insufficiency, astigmatism; respiratory disorders in neonatal period; no joint contracture; talipes equinovarus; respiratory disorders in neonatal period; no bitemporal constriction; arched eyebrows; hypertelorism; proptosis; ptosis; low-set, large ears; midface hypoplasia; depressed nasal bridge, upturned nares, thick nasal alae; tented upper lip; no micrognathia; no small mouth with thin upper lip; no cleft palate; no intermittent esotopia; narrow thorax; no hooked clavicles; no short, wavy ribs; no anteriorly cupped ribs; no platyspondyly; kyphoscoliosis; no large pedicles; iliac flaring; no horizontal acetabular roof; limbs humeral bowing, no radial bowing, no ulnar bowing, femoral bowing, tibial bowing, no fibular bowing, no bone spur, metaphyseal broadening, no pterygia, no stippled epiphysis, no fracture; relatively long hands and feet; no short metacarpals; no postnatal osteoporosis 1 1 Toshiyuki Itai
00398647 Pat3 PubMed: Itai 2022 2-generation family, 1 affected, unaffected non carrier parents F - Japan - - - - - dysplasia, bone see paper; ..., intellectual disability; developmental delay; optic nerve hypoplasia; glossoptosis; respiratory disorders in neonatal period; no joint contracture; no talipes equinovarus; respiratory disorders in neonatal period; bitemporal constriction; arched eyebrows; hypertelorism; proptosis; ptosis; low-set, large ears; midface hypoplasia; depressed nasal bridge, upturned nares, thick nasal alae; tented upper lip; micrognathia; small mouth with thin upper lip; no cleft palate; intermittent esotopia; brachycephaly; narrow thorax; hooked clavicles; short, wavy ribs; anteriorly cupped ribs; platyspondyly; no kyphoscoliosis; large pedicles; iliac flaring; horizontal acetabular roof; limbs humeral bowing, radial bowing, no ulnar bowing, femoral bowing, tibial bowing, no fibular bowing, bone spur, metaphyseal broadening, no pterygia, stippled epiphysis, fracture; relatively long hands and feet; no short metacarpals; postnatal osteoporosis 1 1 Toshiyuki Itai
00398648 Pat4 PubMed: Itai 2022 2-generation family, 1 affected, unaffected non carrier parents M - Japan - - - - - dysplasia, bone see paper; ..., intellectual disability; developmental delay; optic nerve hypoplasia; tracheomalacia; respiratory disorders in neonatal period; no joint contracture; talipes equinovarus; respiratory disorders in neonatal period; bitemporal constriction; arched eyebrows; hypertelorism; proptosis; ptosis; low-set, large ears; midface hypoplasia; depressed nasal bridge, upturned nares, thick nasal alae; tented upper lip; micrognathia; small mouth with thin upper lip; no cleft palate; intermittent esotopia; brachycephaly; narrow thorax; hooked clavicles; short, wavy ribs; no anteriorly cupped ribs; platyspondyly; no kyphoscoliosis; no large pedicles; iliac flaring; horizontal acetabular roof; limbs humeral bowing, radial bowing, no ulnar bowing, femoral bowing, tibial bowing, fibular bowing, no bone spur, metaphyseal broadening, no pterygia, no stippled epiphysis, no fracture; relatively long hands and feet; no short metacarpals; postnatal osteoporosis 1 1 Toshiyuki Itai
00464598 Pat1 PubMed: Marom 2023 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - OI see paper; ..., 40w-birth, weight 1673g; 20y-height 134cm (Z -4.78), weight 28.2kg (Z -7.6), microcephaly (Z -3.12); osteopenia; multiple fractures; bone deformities; scoliosis; dentinogenesis imperfecta, hypodontia, malocclusion; bilateral mild to moderate mixed hearing loss; restrictive lung disease (small chest); midface retrusion, malar flattening, shallow orbits, mandibular prognathia; moderate secundum, atrial septal defect; drooping eyelids (Lt>Rt); bilateral lagophthalmos, hyperopia; delayed puberty; mild developmental delay (gross motor>fine>speech), normal cognitive function 1 1 Johan den Dunnen
00464599 Pat2 PubMed: Marom 2023 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - OI see paper; ..., 38w-birth, weight 2353g; prenatal oligohydramnios; ; 30y-height 91.4cm (Z -10.8), weight 27.2kg (Z -9.2), no microcephaly; osteopenia; multiple fractures; bone deformities; scoliosis; dentinogenesis imperfecta; bilateral moderate to severe mixed hearing loss; restrictive lung disease (small chest); relative macrocephaly, triangular shaped facies, proptosis, downslanting palpebral fissures, mildly low-set ears; no congenital heart defect; blue sclera, drooping eye lids; normal puberty; normal cognitive function 1 1 Johan den Dunnen
00464600 Pat3 PubMed: Marom 2023 2-generation family, 1 affected fetus (terminated pregnancy), unaffected non carrier parents F - - - <0d - - - OI see paper; ..., 23w+2 pregnancy terminated, short long bones with bowed femurs, in utero fractures, no microcephaly; osteopenia; in utero bilateral fractures of femur, radius and ulna, and multiple rib fractures; bone deformities (angulation of humeri, right tibia and left fibula); no scoliosis; slightly reduced lung weight/body weight ratio, normal lung histology; low-set ears, micrognathia, high arched palate, flattened nares; no congenital heart defect 1 1 Johan den Dunnen
00464601 Pat4 PubMed: Marom 2023 3-generation family, 1 affected fetus (terminated pregnancy), unaffected non carrier parents M - - - <0d - - - OI see paper; ..., 20w pregnancy terminated, abnormal ribs, short long bones, small chest size, hypomineralisation, tetralogy of Fallot, absent pulmonary valve, absent ductus venosus, micrognathia, no microcephaly; osteopenia; no fractures; bent and short long bones, hypoplastic and unossified vertebrae and pelvic bones; no scoliosis; small chest; hypertelorism, low-set ears, flat nasal bridge; narrow pulmonary valve, dilated pulmonary artery branches, overriding aorta, absent ductus arteriosus 1 1 Johan den Dunnen
00464602 Pat1 PubMed: Flex 2023 2-generation family, 1 affected, unaffected non carrier parents M - Italy - - - - - NDD see paper; ... 1 1 Johan den Dunnen
00464603 Pat2 PubMed: Flex 2023 2-generation family, affected son/father M - - - - - - - ? see paper; ... 1 1 Johan den Dunnen
00464604 Pat3 PubMed: Flex 2023 2-generation family, 1 affected fetus (terminated pregnancy), unaffected non carrier parents F - - Europe - - - - ? see paper; ... 1 1 Johan den Dunnen
00467796 Fam015PatBAB6712 PubMed: Charng 2016 2-generation family, affected brothers, unaffected heterozygous carrier parents M yes Saudi Arabia - - - - - NDD developmental delay, attention deficit hyperactivity disorder, seizures, brain atrophy, thin corpus callosum 1 2 Johan den Dunnen
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