All individuals with variants in gene KIF7

46 entries on 1 page. Showing entries 1 - 46.
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00004256 - PubMed: Putoux 2011 consanguineous family ? yes Algeria - - - - - ANPH Corpus callosum: ?; Upper limb polydactyly: postaxial right; lower limb polydactyly: preaxial right and left; cleft palate; hallux duplication 2 4 Tania Attie-Bitach
00004257 - PubMed: Putoux 2011 consanguineous family ? yes Algeria - - - - - ANPH Vermis: ?; Corpus callosum: ?; Cleft: ?; Hallux duplication 2 4 Tania Attie-Bitach
00004258 - PubMed: Putoux 2011 consanguineous family ? yes Algeria - - - - - HYDRO arhinencephaly; Vermis: molar tooth sign; Corpus callosum: absent; Upper limb polydactyly: postaxial right and left; lower limb polydactyly: preaxial right and left; Cleft: palate; hallux duplication; micrognathia 2 4 Tania Attie-Bitach
00004259 - PubMed: Putoux 2011 consanguineous family ? yes Algeria - - - - - HYDRO Corpus callosum: ?; hallux duplication 2 4 Tania Attie-Bitach
00004260 - PubMed: Putoux 2011 consanguineous family ? yes Turkey - - - - - ACLS;JBTS12 Vermis: molar tooth sign; Corpus callosum: agenesis; Lower limb polydactyly: preaxial right; Mental retardation, facial dysmorphism 2 1 Tania Attie-Bitach
00004261 - PubMed: Putoux 2011 consanguineous family ? yes Turkey - - - - - ACLS;JBTS12 Vermis: molar tooth sign; Corpus callosum: agenesis; Temporal pachygyria, malformed hippocampus; Upper limb polydactyly: postaxial right and left; Mental retardation, macrocephaly, large fontanelle, depressed and wide nasal bridge, short philtrum, bilateral optic atrophy, ventricular septal defect 2 1 Tania Attie-Bitach
00004262 - PubMed: Putoux 2011 Non-consanguineous family ? no Turkey - - - - - ACLS;JBTS12 Vermis: molar tooth sign; Corpus callosum: agenesis; Wide ventricles; Upper limb polydactyly: postaxial right and left; Lower limb polydactyly: postaxial right and left; Mental retardation, hypotonia, macrocephaly, prominent forehead, hypertelorism, wide nasal bridge, short philtrum, high palate, nail dystrophy 2 1 Tania Attie-Bitach
00004263 - PubMed: Putoux 2011 consanguineous family ? yes Turkey - - - - - ACLS;JBTS12 Vermis: molar tooth sign; Corpus callosum: thin; Wide ventricles, hypomyelinization; Upper limb polydactyly: cutaneous syndactyly; Lower limb polydactyly: postaxial right and left, cutaneous syndactyly; Mental retardation, hypotonia, macrocephaly, prominent forehead, hypertelorism, depressed and wide nasal bridge, short philtrum, congenital hypothryroidism 2 1 Tania Attie-Bitach
00004264 - PubMed: Putoux 2011 consanguineous family ? yes Pakistan - - - - - ACLS;JBTS12 Corpus callosum: agenesis; Wide ventricles, poor frontal cortical development; Upper limb polydactyly: postaxial right and left; Lower limb polydactyly: preaxial and postaxial right and left; Mental retardation, macrocephaly, frontal bossing, hypertelorism, broad nasal bridge, notched nasal tip, low-set ears 2 1 Tania Attie-Bitach
00004265 - PubMed: Putoux 2011 consanguineous family: ? ? ? Finland - - - - - ACLS;JBTS12 Corpus callosum: agenesis; Upper limb polydactyly: postaxial right and left; Lower limb polydactyly: postaxial right and left; Mental retardation, macrocephaly, broad forehead, hypertelorism, peri-orbital fullness, wide nasal bridge, high palate, micrognathia 2 1 Tania Attie-Bitach
00004266 - PubMed: Putoux 2011 consanguineous family ? yes Algeria - - - - - ACLS;JBTS12 Vermis: molar tooth sign; Corpus callosum: thin?; Para-callosal cyst; lower limb polydactyly: preaxial; Mental retardation, hypertelorism, dental anomalies (teeth loss, implantation anomalies), retrognatism 2 1 Tania Attie-Bitach
00004267 - PubMed: Putoux 2011 consanguineous family ? yes Egypt - - - - - ACLS;JBTS12 Vermis: molar tooth sign; Corpus callosum: agenesis; Upper limb polydactyly: postaxial left; Lower limb polydactyly: preaxial; Cleft palate; Mental retardation, macrocephaly, hypertelorism 2 1 Tania Attie-Bitach
00004268 - PubMed: Putoux 2011 - ? ? - - - - - - MKS1 - 1 1 Tania Attie-Bitach
00004269 - PubMed: Putoux 2011 - ? ? - - - - - - BBS1 orofaciodigital syndrome, type VI (OFD-6) 1 1 Tania Attie-Bitach
00004270 - PubMed: Putoux 2011 - ? ? - - - - - - PHS - 1 1 Tania Attie-Bitach
00004271 - PubMed: Putoux 2011 - ? ? - - - - - - ACLS;JBTS12 - 1 1 Tania Attie-Bitach
00004272 - PubMed: Putoux 2011 - ? ? - - - - - - BBS1 - 1 1 Tania Attie-Bitach
00004273 - PubMed: Putoux 2011 - ? ? - - - - - - BBS1 - 1 1 Tania Attie-Bitach
00004274 - PubMed: Putoux 2011 - ? ? - - - - - - BBS1 - 1 1 Tania Attie-Bitach
00004275 - PubMed: Putoux 2011 - ? ? - - - - - - BBS1 - 1 1 Tania Attie-Bitach
00004276 - - control ? - - - - - - - Healthy/Control - 1 1 Tania Attie-Bitach
00004277 - PubMed: Putoux 2011 - ? ? - - - - - - HLS2 - 1 1 Tania Attie-Bitach
00004278 - PubMed: Putoux 2011 - ? ? - - - - - - BBS1 - 1 1 Tania Attie-Bitach
00004279 - PubMed: Putoux 2011 - ? ? - - - - - - BBS1 - 1 1 Tania Attie-Bitach
00180169 29286531-Pat21 PubMed: Tumienė 2018 - - - (Slovenia) - - 0 - - ? Epilepsy (HP:0001250), focal seizures (HP:0007359), developmental delay (HP:0001263), spastic ataxia (HP:0002497), nystagmus (HP:0000639), strabismus (HP:0000486), facial dysmorphism (HP:0001999), bilateral postaxial polydactyly (of hands and feet) (HP:0006136). Head MRI: ventriculomegaly (HP:0002119). 1 1 Johan den Dunnen
00207789 - - - M - Germany - - 0 - - - - 1 1 Andreas Laner
00291334 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00291335 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00291336 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 15 Mohammed Faruq
00291337 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00331495 13DG1403 ,13DG1738 PubMed: Maddirevula 2018 family, 2 affected (2M) M yes - Arab - 0 - - skeletal dysplasia Global developmental delay, Agenesis of the corpus callosum, Abnormal facial shape, PolyYes 1 2 LOVD
00331496 11DG1598 PubMed: Maddirevula 2018 family F yes - Arab - 0 - - skeletal dysplasia Macrocephaly, Syndactyly, Polydactyly, Colpocephaly, Agenesis of corpus callosum, Ventr Yes 1 1 LOVD
00331497 11DG1602 PubMed: Maddirevula 2018 family F yes - Arab - 0 - - skeletal dysplasia Macrocephaly, Syndactyly, Polydactyly, Dextrocardia, Agenesis of corpus callosum, Low-seYes 1 1 LOVD
00332193 JB274 PubMed: Bryant 2018 - - - United States - - 0 - - retinal disease - 1 1 LOVD
00332200 JB307 PubMed: Bryant 2018 - - - United States - - 0 - - retinal disease - 2 1 LOVD
00358948 Case71522 PubMed: Tiwari 2016 see paper M - Switzerland - - 0 - - retinal disease see paper; ... 1 1 LOVD
00358972 Case70559 PubMed: Tiwari 2016 see paper M - Switzerland - - 0 - - retinal disease see paper; ... 1 1 LOVD
00361484 11DG1301 PubMed: Anazi 2017 familial M yes Saudi Arabia - - 0 - - ID syndromic; intellectual disability, ACC, dysmorphism 1 1 Johan den Dunnen
00372285 UW206-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - 0 - - JBTS see paper; ... 1 1 LOVD
00372286 UW230-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - 0 - - JBTS see paper; ... 1 1 LOVD
00372287 UW258-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - 0 - - JBTS see paper; ... 2 1 LOVD
00372387 ND05706 PubMed: Bachmann-Gagescu 2015 control - - - - - 0 - - Healthy/Control - 1 1 LOVD
00372388 ND09659 PubMed: Bachmann-Gagescu 2015 control - - - - - 0 - - Healthy/Control - 2 1 LOVD
00375666 Pat78 PubMed: Srivastava 2014 - - - United States - - 0 - - ? intellectual disability/developmental delay; seizures; blindness; SRB; MRI brain ventriculomegaly, ventricular asymmetry, disruption of body of corpus callosum, subependymal heterotopias, polymicrogyria, Arnold-Chiari malformation 2 1 Johan den Dunnen
00377687 409 PubMed: Brooks 2018 family 74 M - United States - - 0 - - retinal disease retinal degeneration, vessel attenuation, optic nerve atrophy 1 1 LOVD
00388085 409 PubMed: Summers 2017 - - - United States - - 0 - - retinal disease - 1 1 LOVD
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