All individuals with variants in gene BCAP31

36 entries on 1 page. Showing entries 1 - 36.
Legend   How to query  

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml) 1 1 Yu Sun
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
00183137 25644381-FamAU29 PubMed: Hu 2016 family, 2 affected, 1 unaffected heterozygous carrier female M - - - - - - - MRX;IDX - 1 2 Johan den Dunnen
00207886 28771251-Pat33 PubMed: Lionel 2018 - M - Canada - - - - - ? Global developmental delay; deafness; chorea; spasticity 1 1 Johan den Dunnen
00305878 - - - - - - - - - - - DDCH deafness, dystonia, central hypomyelination, refractory seizure, and fluctuating liver function impairment 1 1 Ni-Chung Lee
00314696 Fam14P15 Whalen et al (submitted) - M no United Kingdom (Great Britain) - - - - - ? severe intellectual disability (HP:0010864), late onset seizures (HP:0001250), dysarthria (HP:0001260), conductive hearing loss (HP:0000405) 1 1 Marie Shaw
00314697 Fam14P16 Whalen et al (submitted) - M no United Kingdom (Great Britain) - - - - - ? severe intellectual disability (HP:0010864), dysarthria (HP:0001260) 1 1 Marie Shaw
00314698 Fam14P17 Whalen et al (submitted) - M no United Kingdom (Great Britain) - - - - - ? mild intellectual disability (HP:0001256), dysarthria (HP:0001260), mild ataxia 1 1 Marie Shaw
00314699 Fam14P18 Whalen et al (submitted) - F no United Kingdom (Great Britain) - - - - - ? late onset seizures (HP:0001250) plus drop attacks (HP:0010819), delayed speech (HP:0000750), dysarthria (HP:0001260), ataxia 1 1 Marie Shaw
00314857 Fam14P14 Whalen et al (submitted) - M no Australia - - - - - ID Speech disorder Sensorineural hearing loss (SNHL) 1 1 Marie Shaw
00314917 Fam1PatIII2 PubMed: Cacciagli 2013 3-generation family, 2 affected brothers, unaffected carrier mother M - France - 24y - - - ? severe intellectual disability; onset congenital; 1y-deafness; facial dysmorphism; no motor milestones; no cognitive problems; congenital strabismus; dystonia; 4y-seizures; pyramidal signs, quadriplegia, unexplained episodic fever, aggressiveness; failure to thrive, intrauterine growth delay, weight -7 SD, height -8 SD; microcephaly (-5 SD) 1 2 Johan den Dunnen
00314918 Fam1PatIII3 PubMed: Cacciagli 2013 brother M - France - 13y - - - ? severe intellectual disability; onset congenital; 1y-deafness; facial dysmorphism; no motor milestones; no cognitive problems; congenital strabismus, abnormal eye movements; dystonia; seizures; pyramidal signs, quadriplegia, unexplained episodic fever; failure to thrive, intrauterine growth delay, weight -6 SD, height -5 SD; microcephaly (-5 SD); MRI brain 11y-periventricular hypomyelination; atrophy cerebral cortex, atrophy cerebellum 1 1 Johan den Dunnen
00314919 Fam2PatIII5 PubMed: Cacciagli 2013 4-generation family, 4 affected (4M), 3 unaffected carrier females M - France - 7m - - - ? severe intellectual disability; onset congenital; no motor milestones; no cognitive problems 1 4 Johan den Dunnen
00314920 Fam2PatIII6 PubMed: Cacciagli 2013 - M - France - 1y - - - ? severe intellectual disability; onset 6w; 1y-deafness; facial dysmorphism; no motor milestones; no cognitive problems; optic atrophy; dystonia; no seizures; pyramidal signs, quadriplegia; failure to thrive 1 1 Johan den Dunnen
00314921 Fam2PatIII7 PubMed: Cacciagli 2013 - M - France - 2y - - - ? severe intellectual disability; onset 6w; 1y-deafness; facial dysmorphism; motor development 12m-head control; no cognitive problems; congenital strabismus; dystonia; no seizures; pyramidal signs, quadriplegia; failure to thrive 1 1 Johan den Dunnen
00314922 Fam2PatIV1 PubMed: Cacciagli 2013 - M - France - >13y - - - ? severe intellectual disability; onset congenital; 6w-normal hearing, 7m-hearing loss (7m 70 db, 3y 0 db); facial dysmorphism; motor development 6m-head control, 5y-sitting, 8y-autonomous wheelchair; simple sign language and scribbling; congenital strabismus, optic atrophy; 10m-dystonia; 8y-seizures; pyramidal signs, paraplegia, unexplained episodic fever, hyperactivity; failure to thrive, intrauterine growth delay; <3y-weight -3 SD, height -3 SD; >3y-weight -2 SD, height -2 SD; 2m-microcephaly (-3 SD), 2y-microcephaly (-2 SD); MRI brain 5.6y-periventricular hypomyelination; no atrophy 1 1 Johan den Dunnen
00314923 Fam3PatIII1 PubMed: Cacciagli 2013 3-generation family, 1 affected (M), 3 unaffected carrier females M - France - 3y - - - ? severe intellectual disability; onset congenital; 5m-deafness (8m 20 db); mild facial dysmorphism; motor development 1y-head control, 1.5y-lost head control; no cognitive problems; congenital strabismus; 6m-dystonia; no seizures; pyramidal signs, quadriplegia, unexplained episodic fever; failure to thrive, 1d-weight normal, height normal; >1y-weight -2 SD, height -2 SD; <6m-microcephaly (02 SD), >6m-microcephaly (-3 SD); MRI brain 2.5y-diffuse hypomyelination; atrophy corpus callosum, atrophy frontal lobe, atrophy white matter 1 1 Johan den Dunnen
00314924 patient PubMed: Osaka 2012 2-generation family, 1 affected, unaffected non-carrier parents M no Japan - - - - - ? see paper; severe dystonia, profound intellectual disability, profound developmental disability, liver disease, sensorineural deafness, ... 1 1 Johan den Dunnen
00314925 FamPatIV1/2 PubMed: Vittal 2015 4-generation family, 2 affected brothers, 2 unaffected carrier females M - Italy - - - - - ? see paper; ... 1 1 Johan den Dunnen
00314926 patient PubMed: Albanyan 2017 2-generation family, 1 affected, carrier mother M - Canada - - - - - ? see paper; sensorineural hearing loss, generalized dystonia, and choreoathetosis, ... 1 1 Johan den Dunnen
00314927 patient PubMed: Rinaldi 2020 - M no Belgium - - - - - ? see paper; severe developmental delay, failure to thrive, hearing loss, dyskinetic movements, ... 1 1 Johan den Dunnen
00314928 patient PubMed: Shimizu 2020 - M no Japan - - - - - ? see paper; ... 1 1 Johan den Dunnen
00314929 patient PubMed: Kao 2020 - F no Taiwan - - - - - ? see paper; deafness, dystonia, central hypomyelination, refractory seizure, fluctuating liver function impairment, progressive deterioration with febrile episodes, ...; 5y-deceased 2 1 Johan den Dunnen
00315922 Fam1Pat1 Whalen et al. submitted - M no New Zealand - - - - - ID - 1 1 Laurent Villard
00315923 P2-Family2 Whalen et al. submitted - M no Italy - - - - - ID - 1 1 Laurent Villard
00315924 P3-Family2 Whalen et al. submitted - M no Italy - - - - - ID - 1 1 Laurent Villard
00315925 P4-Family3 Whalen et al. submitted - M no United States - - - - - ID - 1 1 Laurent Villard
00315926 P5-Family4 Whalen et al. submitted - M no Australia - - - - - ID - 1 1 Laurent Villard
00315927 P6-Family5 Whalen et al. submitted - M no United States - - - - - ID - 1 1 Laurent Villard
00315928 P7-Family6 Whalen et al. submitted - M no United Kingdom (Great Britain) - - - - - ID - 1 1 Laurent Villard
00315929 P8-Family7 Whalen et al. submitted - M no United Kingdom (Great Britain) - - - - - ID - 1 1 Laurent Villard
00315930 P9-Family8 Whalen et al. submitted - M no Israel - - - - - ID - 1 1 Laurent Villard
00315931 P10-Family9 Whalen et al. submitted - M no Canada - - - - - ID - 1 1 Laurent Villard
00315932 P11-Family10 Whalen et al. submitted - M no United States - - - - - ID - 1 1 Laurent Villard
00315934 P13-Family12 Whalen et al. submitted - F no France - - - - - ID - 1 1 Laurent Villard
00317967 P12-Family11 Whalen et al. submitted - M no United States - - - - - ID - 1 1 Laurent Villard
Legend   How to query  

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.