All individuals with variants in gene NFIX

103 entries on 2 pages. Showing entries 1 - 100.
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AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Variants     

Panel size     

Owner     
00016488 - PubMed: Schanze 2014 - F no - - - - - - MRSHSS - 1 1 Denny Schanze
00016489 - PubMed: Schanze 2014 - M no - - - - - - MRSHSS - 1 1 Denny Schanze
00016490 - PubMed: Schanze 2014 - M no - - - - - - MRSHSS - 1 1 Denny Schanze
00016492 - PubMed: Schanze 2014 - F no - - - - - - MRSHSS - 1 1 Denny Schanze
00016493 - PubMed: Schanze 2014 - M no - - - - - - MRSHSS - 1 1 Denny Schanze
00016494 - PubMed: Schanze 2014 - M no - - - - - - MRSHSS - 1 1 Denny Schanze
00016495 - PubMed: Schanze 2014 - M no - - - - - - MRSHSS - 1 1 Denny Schanze
00016496 - PubMed: Schanze 2014 - M no - - - - - - MRSHSS - 1 1 Denny Schanze
00016497 - PubMed: Schanze 2014 - M no - - - - - - MRSHSS - 1 1 Denny Schanze
00016498 - PubMed: Schanze 2014 - F no - - - - - - MRSHSS - 1 1 Denny Schanze
00016499 - PubMed: Schanze 2014 - M no - - - - - - MRSHSS - 1 1 Denny Schanze
00016500 - PubMed: Schanze 2014 - M - - - - - - - MRSHSS - 1 1 Denny Schanze
00016501 - PubMed: Schanze 2014 - M no - - - - - - MRSHSS - 1 1 Denny Schanze
00016502 - PubMed: Schanze 2014 - F no - - - - - - MRSHSS - 1 1 Denny Schanze
00016503 - PubMed: Schanze 2014 - F no - - - - - - MRSHSS - 1 1 Denny Schanze
00016504 - PubMed: Schanze 2014 - F no - - - - - - MRSHSS - 1 1 Denny Schanze
00016505 - PubMed: Schanze 2014 - F no - - - - - - MRSHSS - 1 1 Denny Schanze
00100339 - - - F no United States - - - - - MRSHSS - 1 1 Anjali Aggarwal
00164377 P1 PubMed: Priolo 2018, Journal: Priolo 2018 - M no - - - - - - MALNS;SOTOS2 - 1 1 Denny Schanze
00164378 P2 PubMed: Priolo 2018, Journal: Priolo 2018 - F no - - - - - - MALNS;SOTOS2 - 1 1 Denny Schanze
00164379 P3 PubMed: Priolo 2018, Journal: Priolo 2018 - F no - - - - - - MALNS;SOTOS2 - 1 1 Denny Schanze
00164380 P4 PubMed: Priolo 2018, Journal: Priolo 2018 - M no - - - - - - MALNS;SOTOS2 - 1 1 Denny Schanze
00164381 P5 PubMed: Priolo 2018, Journal: Priolo 2018 - M no - - - - - - MALNS;SOTOS2 - 1 1 Denny Schanze
00164382 P6 PubMed: Priolo 2018, Journal: Priolo 2018 - M no - - - - - - MALNS;SOTOS2 - 1 1 Denny Schanze
00164383 P7 PubMed: Priolo 2018, Journal: Priolo 2018 - M no - - - - - - MALNS;SOTOS2 - 1 1 Denny Schanze
00164384 P8 PubMed: Priolo 2018, Journal: Priolo 2018 - F no - - - - - - MALNS;SOTOS2 - 1 1 Denny Schanze
00164385 P9 PubMed: Priolo 2018, Journal: Priolo 2018 - M no - - - - - - MALNS;SOTOS2 - 1 1 Denny Schanze
00164386 P10 PubMed: Priolo 2018, Journal: Priolo 2018 - F no - - - - - - MALNS;SOTOS2 - 1 1 Denny Schanze
00164387 P11 PubMed: Priolo 2018, Journal: Priolo 2018 - F no - - - - - - MALNS;SOTOS2 - 1 1 Denny Schanze
00164388 P12 PubMed: Priolo 2018, Journal: Priolo 2018 - M no - - - - - - MALNS;SOTOS2 - 1 1 Denny Schanze
00164389 P13 PubMed: Priolo 2018, Journal: Priolo 2018 - F no - - - - - - MALNS;SOTOS2 - 1 1 Denny Schanze
00164390 P14 PubMed: Priolo 2018, Journal: Priolo 2018 - M no - - - - - - MALNS;SOTOS2 - 1 1 Denny Schanze
00164391 P15 PubMed: Priolo 2018, Journal: Priolo 2018 - F no - - - - - - MALNS;SOTOS2 - 1 1 Denny Schanze
00164392 P16 PubMed: Priolo 2018, Journal: Priolo 2018 - M no - - - - - - MALNS;SOTOS2 - 1 1 Denny Schanze
00164393 P17 PubMed: Priolo 2018, Journal: Priolo 2018 - F no - - - - - - MALNS;SOTOS2 - 1 1 Denny Schanze
00164394 P18 PubMed: Priolo 2018, Journal: Priolo 2018 - F no - - - - - - MALNS;SOTOS2 - 1 1 Denny Schanze
00164395 P19 PubMed: Priolo 2018, Journal: Priolo 2018 - M no - - - - - - MALNS;SOTOS2 - 1 1 Denny Schanze
00164396 P20 PubMed: Priolo 2018, Journal: Priolo 2018 - M no - - - - - - MALNS;SOTOS2 - 1 1 Denny Schanze
00164397 P21 PubMed: Priolo 2018, Journal: Priolo 2018 - F no - - - - - - MALNS;SOTOS2 - 1 1 Denny Schanze
00164398 P22 PubMed: Priolo 2018, Journal: Priolo 2018 - M no - - - - - - MALNS;SOTOS2 - 1 1 Denny Schanze
00164399 P23 PubMed: Priolo 2018, Journal: Priolo 2018 - M no - - - - - - MALNS;SOTOS2 - 1 1 Denny Schanze
00164400 P24 PubMed: Priolo 2018, Journal: Priolo 2018 - M no - - - - - - MALNS;SOTOS2 - 1 1 Denny Schanze
00164401 P25 PubMed: Priolo 2018, Journal: Priolo 2018 - F no - - - - - - MALNS;SOTOS2 - 1 1 Denny Schanze
00164402 P26 PubMed: Priolo 2018, Journal: Priolo 2018 - F no - - - - - - MALNS;SOTOS2 - 1 1 Denny Schanze
00164403 P27 PubMed: Priolo 2018, Journal: Priolo 2018 - M no - - - - - - MALNS;SOTOS2 - 1 1 Denny Schanze
00164404 P28 PubMed: Priolo 2018, Journal: Priolo 2018 - M no - - - - - - MALNS;SOTOS2 - 1 1 Denny Schanze
00164405 P29 PubMed: Priolo 2018, Journal: Priolo 2018 - F no - - - - - - MALNS;SOTOS2 - 1 1 Denny Schanze
00164406 P30 PubMed: Priolo 2018, Journal: Priolo 2018 - F no - - - - - - MALNS;SOTOS2 - 1 1 Denny Schanze
00164407 P31 PubMed: Priolo 2018, Journal: Priolo 2018 - M no - - - - - - MALNS;SOTOS2 - 1 1 Denny Schanze
00164408 P32 PubMed: Priolo 2018, Journal: Priolo 2018 - F no - - - - - - MALNS;SOTOS2 - 1 1 Denny Schanze
00164409 P33 PubMed: Priolo 2018, Journal: Priolo 2018 - M no - - - - - - MALNS;SOTOS2 - 1 1 Denny Schanze
00164410 P34 PubMed: Priolo 2018, Journal: Priolo 2018 - M no - - - - - - MALNS;SOTOS2 - 1 1 Denny Schanze
00164411 P35 PubMed: Priolo 2018, Journal: Priolo 2018 - F no - - - - - - MALNS;SOTOS2 - 1 1 Denny Schanze
00164412 P36 PubMed: Priolo 2018, Journal: Priolo 2018 - M no - - - - - - MALNS;SOTOS2 - 1 1 Denny Schanze
00164413 P37 PubMed: Priolo 2018, Journal: Priolo 2018 - M no - - - - - - MALNS;SOTOS2 - 1 1 Denny Schanze
00164414 P38 PubMed: Priolo 2018, Journal: Priolo 2018 - M no - - - - - - MALNS;SOTOS2 - 1 1 Denny Schanze
00164415 P39 PubMed: Priolo 2018, Journal: Priolo 2018 - M no - - - - - - MALNS;SOTOS2 - 1 1 Denny Schanze
00164416 P40 PubMed: Priolo 2018, Journal: Priolo 2018 - M no - - - - - - MALNS;SOTOS2 - 1 1 Denny Schanze
00164417 P41 PubMed: Priolo 2018, Journal: Priolo 2018 - M no - - - - - - MALNS;SOTOS2 - 1 1 Denny Schanze
00164418 P42 PubMed: Priolo 2018, Journal: Priolo 2018 - M no - - - - - - MALNS;SOTOS2 - 1 1 Denny Schanze
00164443 25118028-Pat5 PubMed: Klaassens 2015 - F - - - - - - - MALNS;SOTOS2 - 1 1 Denny Schanze
00164444 25118028-Pat6 PubMed: Klaassens 2015 - M - - - - - - - MALNS;SOTOS2 - 1 1 Denny Schanze
00164445 26200704-Pat4 PubMed: Martinez 2015 - M - - - - - - - MALNS;SOTOS2 - 1 1 Denny Schanze
00164446 26200704-Pat5 PubMed: Martinez 2015 - F - - - - - - - MALNS;SOTOS2 - 1 1 Denny Schanze
00164447 Pat1 PubMed: Yoneda 2012 - F - - - - - - - MALNS;SOTOS2 - 1 1 Denny Schanze
00164448 Pat2 PubMed: Yoneda 2012 - M - - - - - - - MALNS;SOTOS2 - 1 1 Denny Schanze
00164449 22982744-Pat1 PubMed: Priolo 2012 - F - - - - - - - MALNS;SOTOS2 - 1 1 Denny Schanze
00164450 261933830-Pat1 PubMed: Gurrieri 2015 - F - - - - - - - MALNS;SOTOS2 - 1 1 Denny Schanze
00164451 261933830-Pat2 PubMed: Gurrieri 2015 - F - - - - - - - MALNS;SOTOS2 - 1 1 Denny Schanze
00164452 261933830-Pat3 PubMed: Gurrieri 2015 - M - - - - - - - MALNS;SOTOS2 - 1 1 Denny Schanze
00164453 28584646-Pat1 PubMed: Oshima 2017 - M - - - - - - - MALNS;SOTOS2 - 1 1 Denny Schanze
00164454 26927468-AB PubMed: Jezela-Stanek 2016 - F - - - - - - - MALNS;SOTOS2 - 1 1 Denny Schanze
00164455 20673863-PatC PubMed: Malan 2010 - F - - - - - - - MALNS;SOTOS2 - 1 1 Denny Schanze
00164456 29142766-Pat PubMed: Lu 2017 - - - - - - - - - MALNS;SOTOS2 - 1 1 Denny Schanze
00183657 27620904-Pat02 PubMed: Martinez 2017, Journal: Martinez 2017 - - - Spain - - - - - ID - 1 1 Johan den Dunnen
00269895 - - - ? - - - - - - - ? Global developmental delay (HP:0001263); Seizures (HP:0001250); Visual impairment (HP:0000505); Abnormal delivery (HP:0001787) 1 1 IMGAG
00289297 - - - F - - - - - - - ? Abnormality of globe location (HP:0100886); Arachnodactyly (HP:0001166); Abnormality of finger (HP:0001167); Defect in the atrial septum (HP:0001631); Dysphagia (HP:0002015); Abnormality of the esophagus (HP:0002031); Abnormality of the mandible (HP:0000277); Microretrognathia (HP:0000308); Abnormality of the nose (HP:0000366); Choanal stenosis (HP:0000452); Abnormality of the eye (HP:0000478); Abnormality of cardiac atrium (HP:0005120); Proptosis (HP:0000520); Abnormality of the clitoris (HP:0000056); Clitoral hypertrophy (HP:0008665); Abnormality of the skin (HP:0000951) 1 1 Andreas Laner
00292044 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00292045 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 2 Mohammed Faruq
00306239 - - - F - - - - - - - ? Muscular hypotonia (HP:0001252); Global developmental delay (HP:0001263) 1 1 Andreas Laner
00314894 Trio78 PubMed: Zhu 2015 - M - United States - - - - - ? Macrocephaly, advanced bone age, Gibbus deformity, clinical diagnosis of Sotos syndrome, speech delay, developmental delay. 1 1 Johan den Dunnen
00331526 11DG2179 PubMed: Maddirevula 2018 isolated case M no - Arab - - - - skeletal dysplasia Tall stature, Intellectual disability, Seizures, Vomiting, Strabismus 1 1 LOVD
00331527 12DG1080 PubMed: Maddirevula 2018 isolated case M yes - Arab - - - - skeletal dysplasia Relative macrocephaly, Intellectual disability, Abnormal facia shape, Prominent forehead, Yes 1 1 LOVD
00361637 12DG1080 PubMed: Anazi 2017 simplex case M yes Saudi Arabia - - - - - ID syndromic; intellectual disability, dysmorphism 1 1 Johan den Dunnen
00402809 Pat2 PubMed: Reyna-Fabian 2024 2-generation family, 1 affected, unaffected parents M no Mexico - - - - none MALNS;SOTOS2 Exotropia, severe intellectual disability, tall stature, pectus excavatum, arachnodactyly, dolichostenomelia, dolichocephaly, deeply set eye, tooth malposition. 1 1 Miriam Erandi Reyna-Fabián
00403870 TF056 PubMed: Froukh 2020 analysis 103 families with neurodevelopmental disorders - - Jordan - - - - - NDD - 1 1 Johan den Dunnen
00435261 261600 - - M no Germany - - - - - MALNS;SOTOS2 Macrocephaly, Global developmental delay, Short stature, Neurodevelopmental delay, Hypotonia 1 1 Andreas Laner
00440405 PED3647.1 PubMed: Nambot 2018 - - - France - - - - - ? - 1 1 Johan den Dunnen
00448198 Pat26 PubMed: Poli 2024 - M - Chile - - - - - ? developmental delay; tall stature; abnormal aggressive, impulsive or violent behavior; strabismus; skeletal anomalies; dysmorphic facial features 1 1 Johan den Dunnen
00450251 COG0101 PubMed: Tatton-Brown 2017 patient - - United States - - - - - ? overgrowth; severe intellectual disability; 1 1 Johan den Dunnen
00450252 COG0110 PubMed: Tatton-Brown 2017 patient - - United States - - - - - ? overgrowth; moderate intellectual disability; 1 1 Johan den Dunnen
00450253 COG0226 PubMed: Tatton-Brown 2017 patient - - United States - - - - - ? overgrowth; mild intellectual disability; 1 1 Johan den Dunnen
00450254 COG0874 PubMed: Tatton-Brown 2017 patient - - United States - - - - - ? overgrowth height; Intellectual disability; 1 1 Johan den Dunnen
00450255 COG1671 PubMed: Tatton-Brown 2017 patient - - United States - - - - - ? overgrowth head, overgrowth height; moderate intellectual disability; 1 1 Johan den Dunnen
00450256 COG0043 PubMed: Tatton-Brown 2017 patient - - United States - - - - - ? overgrowth; Intellectual disability; 1 1 Johan den Dunnen
00450257 COG0058 PubMed: Tatton-Brown 2017 patient - - United States - - - - - ? overgrowth; Intellectual disability; 1 1 Johan den Dunnen
00450258 COG0303 PubMed: Tatton-Brown 2017 patient - - United States - - - - - ? overgrowth head, overgrowth height; moderate intellectual disability; 1 1 Johan den Dunnen
00450259 COG0706 PubMed: Tatton-Brown 2017 patient - - United States - - - - - ? overgrowth head, overgrowth height; severe intellectual disability; 1 1 Johan den Dunnen
00450260 COG1423 PubMed: Tatton-Brown 2017 patient - - United States - - - - - ? overgrowth; Intellectual disability; 1 1 Johan den Dunnen
00450261 COG1651 PubMed: Tatton-Brown 2017 patient - - United States - - - - - ? overgrowth head; moderate intellectual disability; 1 1 Johan den Dunnen
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