All individuals with variants in gene CRADD

45 entries on 1 page. Showing entries 1 - 45.
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AscendingIndividual ID     
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Age at death     
VIP     
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Treatment     
Disease     
Phenotype details     
Variants     
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00207614 FIN-1_IX-1 PubMed: Polla 2019 - F yes Finland - - - - - MRT34 - 1 2 Daniel Lopo Polla
00207617 FIN-1_IX-2 PubMed: Polla 2019 - F yes Finland - - - - - MRT34 - 1 1 Daniel Lopo Polla
00207623 FIN-2_IX-4 PubMed: Polla 2019 - F no Finland - - - - - MRT34 - 1 2 Daniel Lopo Polla
00207624 FIN-2_ IX-6 PubMed: Polla 2019 - F no Finland - - - - - MRT34 - 1 1 Daniel Lopo Polla
00207625 FIN-3_ V-5 PubMed: Polla 2019 - M yes Finland - - - - - MRT34 - 1 3 Daniel Lopo Polla
00207626 FIN-3_ V-6 PubMed: Polla 2019 - F yes Finland - - - - - MRT34 - 1 1 Daniel Lopo Polla
00207627 FIN-3_ V-8 PubMed: Polla 2019 - M yes Finland - - - - - MRT34 - 1 1 Daniel Lopo Polla
00207630 FIN-4_ IX-8 PubMed: Polla 2019 - M no Finland - - - - - MRT34 - 1 1 Daniel Lopo Polla
00207631 FIN-5_ IX-4 PubMed: Polla 2019 - M no Finland - - - - - MRT34 - 1 1 Daniel Lopo Polla
00207632 FIN-6_ IX-10 PubMed: Polla 2019 - M no Finland - - - - - MRT34 - 1 1 Daniel Lopo Polla
00207633 FIN-7_ II-1 PubMed: Polla 2019 - F no Finland - - - - - MRT34 - 1 1 Daniel Lopo Polla
00207634 FIN-8_ III-1 PubMed: Polla 2019 - F yes Finland - - - - - MRT34 - 1 1 Daniel Lopo Polla
00207635 FIN-9_ III-4 PubMed: Polla 2019 - F no Finland - - - - - MRT34 - 1 1 Daniel Lopo Polla
00207636 FIN-10_ IX-6 PubMed: Polla 2019 - F no Finland - - - - - MRT34 - 1 1 Daniel Lopo Polla
00207638 FIN-11_ III-1 PubMed: Polla 2019 - F no Finland - - - - - MRT34 - 1 2 Daniel Lopo Polla
00207639 FIN-11_ III-3 PubMed: Polla 2019 - F no Finland - - - - - MRT34 - 1 1 Daniel Lopo Polla
00207640 FIN-12_VII-1 PubMed: Polla 2019 - M no Finland - - - - - MRT34 - 1 1 Daniel Lopo Polla
00207641 FIN-13_ VIII-2 PubMed: Polla 2019 - M no Finland - - - - - MRT34 - 1 2 Daniel Lopo Polla
00207642 FIN-13_ VIII-3 PubMed: Polla 2019 - M no Finland - - - - - MRT34 - 1 1 Daniel Lopo Polla
00207643 FIN-14_VIII-9 PubMed: Polla 2019 - F no Finland - - - - - MRT34 - 1 1 Daniel Lopo Polla
00207644 FIN-15_ II-2 PubMed: Avela 2012, PubMed: Polla 2019 family, 2 affected brothers M no Finland - - - - - MRT34 - 1 2 Daniel Lopo Polla
00207646 FIN-15_ II-3 PubMed: Avela 2012, PubMed: Polla 2019 - M no Finland - - - - - MRT34 - 1 1 Daniel Lopo Polla
00275662 FamMR123Pat3 PubMed: Santos-Cortez 2018 4-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives M yes Pakistan - - - - - ID OFC 50cm; IQ 55, mild intellectual disability (HP:0001256) 1 3 Johan den Dunnen
00275663 FamMR123Pat5 PubMed: Santos-Cortez 2018 - M yes Pakistan - - - - - ID OFC 54cm; IQ 55, mild intellectual disability (HP:0001256) 1 1 Johan den Dunnen
00374605 S-3540 PubMed: Ganapathy 2019 - - - India - - - - - ? - 1 1 Johan den Dunnen
00408976 FamPat5 PubMed: Puffenberger 2012 large family (>5 affected), no patient number in publication, consecutive numbers given ? - United States Amish;Mennonite - - - - MR;ID delayed language development; mild-moderate mental retardation 1 5 LOVD
00408977 FamPat6 PubMed: Puffenberger 2012 relative ? - United States Amish;Mennonite - - - - MR;ID delayed language development; mild-moderate mental retardation 1 1 LOVD
00408978 FamPat7 PubMed: Puffenberger 2012 relative ? - United States Amish;Mennonite - - - - MR;ID delayed language development; mild-moderate mental retardation 1 1 LOVD
00408979 FamPat8 PubMed: Puffenberger 2012 relative ? - United States Amish;Mennonite - - - - MR;ID delayed language development; mild-moderate mental retardation 1 1 LOVD
00408980 FamPat9 PubMed: Puffenberger 2012 relative ? - United States Amish;Mennonite - - - - MR;ID delayed language development; mild-moderate mental retardation 1 1 LOVD
00433319 Fam15Pat1 PubMed: Jacquemin 2023 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M no Finland - - - - - HYDRO hydrocephaly (OFC 37cm (+1SD)); MRI pachygyria 1 2 Johan den Dunnen
00433320 Fam15Pat2 PubMed: Jacquemin 2023 brother M no Finland - - - - - HYDRO hydrocephaly; macrocephaly (OFC 40.5cm (+3SD)); MRI pachygyria 1 1 Johan den Dunnen
00443445 LR00-150 PubMed: Di Donato 2016 patient F - United States Finland - - - - ? see paper; ..., OFC 60.9 cm (+3.6SD), true megalencephaly; mild intellectual disability; well controlled seizures 1 1 Johan den Dunnen
00443446 LR02-006 PubMed: Sajan 2013, PubMed: Di Donato 2016 patient M - United States Europe-W - - - - ? see paper, ..., height 176.5 cm (-0.3SD), weight 67 kg (-0.6SD), OFC 59.7 cm (+2SD), mild megalencephaly; mild intellectual disability; 2 generalized tonic-clonic seizures at time of papilloma diagnosis, no recurrence, no treatment after surgery; 8y-atypical choroid plexus papilloma, WHO grade 2 2 1 Johan den Dunnen
00443447 LR04-101a1 PubMed: Di Donato 2016 2-generation family, 2 affected sisters, unaffected heterozygous parents F yes United States Mennonite - - - - ? see paper, ..., height 157.5 cm (-1.51SD), weight 60.4kg (+0.24SD), OFC 57.8 cm (+2SD), mild megalencephaly; mild intellectual disability; 12m-generalized nonconvulsive seizures, well controlled 1 2 Johan den Dunnen
00443448 LR04-101a2 PubMed: Di Donato 2016 sister F yes United States Mennonite - - - - ? see paper, ..., height 146.7 cm (-2SD), weight 40.1 kg (-1.55SD), OFC 54.5 cm (+0.1SD), relative megalencephaly; mild-moderate intellectual disability; 18m-generalized nonconvulsive seizures, well controlled 1 1 Johan den Dunnen
00443449 LR05-279a1 PubMed: Di Donato 2016 2-generation family, affected brother/sister, unaffected heterozygous parents (1st cousins) M - Turkey - - - - - ? see paper, ..., height 178 cm (-0.4SD), weight 79.7 kg (+0.85SD), OFC 60 cm (+2.7SD), mild megalencephaly; mild intellectual disability; no seizures 1 2 Johan den Dunnen
00443450 LR05-279a2 PubMed: Di Donato 2016 sister F - Turkey - - - - - ? see paper, ..., height 163.5 cm (-0.7SD), weight 71.1 kg (+1.3SD), OFC 59.5 cm (+3.5SD), true megalencephaly; mild-moderate intellectual disability; no seizures; Chiari malformation, hydrocephalus with shunt 1 1 Johan den Dunnen
00443451 LR15-293a1 PubMed: Di Donato 2016 large family, 7 affected (F, 6M) M yes United States Mennonite - - - - ? see paper, ..., height 177,8 cm (-0.19SD), weight 75 kg (-0.19SD), OFC 57.5 cm (+0.4SD), no megalencephaly; borderline-mild intellectual disability; no seizures 1 7 Johan den Dunnen
00443452 LR15-293a2 PubMed: Di Donato 2016 relative M yes United States Mennonite - - - - ? see paper, ..., height 162.6 cm (-1.1SD), weight 62 kg (+0.27SD), OFC 58.8 cm (+2.1SD), mild megalencephaly; mild intellectual disability; no seizures 1 1 Johan den Dunnen
00443453 LR15-293a3 PubMed: Di Donato 2016 relative M yes United States Mennonite - - - - ? see paper, ..., height 170.2 cm (-1.53SD), weight 81.1 (+0.98SD), OFC 58.9 cm (+2.1SD), mild megalencephaly; mild intellectual disability; no seizures 1 1 Johan den Dunnen
00443454 LR15-293a4 PubMed: Di Donato 2016 relative M yes United States Mennonite - - - - ? see paper, ..., height 174.6 cm (-0.61SD), weight 78 kg (+0.59SD), OFC 58.3 cm (+2SD), mild megalencephaly; mild intellectual disability; no seizures 1 1 Johan den Dunnen
00443455 LR15-293a5 PubMed: Di Donato 2016 relative M yes United States Mennonite - - - - ? see paper, ..., height 143.5 cm (-0.16SD), weight 52.6 kg (+1.45SD), OFC 56.5 cm (+2SD), mild megalencephaly; mild intellectual disability; no seizures 1 1 Johan den Dunnen
00443456 LR15-293a6 PubMed: Di Donato 2016 relative M yes United States Mennonite - - - - ? see paper, ..., height 173.4 cm (-0.83SD), weight 82.6 kg (+0.85SD), OFC 59.2 cm (+2.2SD), mild megalencephaly; mild intellectual disability; no seizures 1 1 Johan den Dunnen
00443457 LR15-293a7 PubMed: Di Donato 2016 relative F yes United States Mennonite - - - - ? see paper, ..., height 160.7 cm (-0.79SD), weight 70.1 kg (+0.89SD), OFC 58.5 cm (+2.4SD), mild megalencephaly; mild-moderate intellectual disability; no seizures 1 1 Johan den Dunnen
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