All individuals with variants in gene AGL

46 entries on 1 page. Showing entries 1 - 46.
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     
00000004 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000013 - PubMed: Bell 2011 - - - - - - - - - autism, BMD/DMD - 1 1 Global Variome, with Curator vacancy
00065124 SIDS041 PubMed: Neubauer 2017 Journal: Neubauer 2017 - F ? Switzerland Europe 00y04m - - - SIDS SIDS 1 1 Cordula Haas
00079987 - PubMed: Elli 2016 - M no (Italy) - - - - - ACRDYS1 hypospadias 1 1 Francesca Marta Elli
00095189 - - - M ? Iran - - - - - GSD3 weakness : distal and proximal, upper and lower limbs perdominaltly distal upper limbs severe axial and mild neck weakness, foot drop achilles contracture, atrophy in deltoid, supraspinatus and intrinsic hand muscles 1 1 François Petit
00095197 - - - M ? Iran - - - - - GSD3 weakness: distal and proximal, upper and lower limbs predominantly distal upper limbs thoracis scoliosis 1 1 François Petit
00095199 - - - M ? Iran - - - - - GSD3 weakness: distal and proximal upper limbs and proximal lower limbs atrophy in thenar and hypothenar cardiac involvement since 15y/o 1 1 François Petit
00095202 - - - M ? Iran - - - - - GSD3 weakness: distal and proximal upper limbs and proximal lower limbs cardiac involvement since 39 y/o cirrhosis at 36 y/o 1 1 François Petit
00095204 - - - F ? Iran - - - - - GSD3 weakness: distal and proximal upper limbs and proximal lower limbs atrophy in first dorsal interosseus hepatomegaly and hypoglycemia 1 1 François Petit
00204558 - - - - - United States - - - - - GSD3 - 1 1 LOVD
00204559 - - 3 unrelated patients - - United States - - - - - GSD3 - 1 3 LOVD
00204560 - - - - - United States - - - - - GSD3 - 1 1 LOVD
00204561 - - - - - United States - - - - - GSD3 - 1 1 LOVD
00204562 - - - - - United States - - - - - GSD3 - 1 1 LOVD
00204563 - - - - - United States - - - - - GSD3 - 1 1 LOVD
00204564 - - - - - United States - - - - - GSD3 - 1 1 LOVD
00204565 - - - - - United States white - - - - GSD3 - 4 1 LOVD
00204566 - - - M - United Kingdom (Great Britain) - - - - - GSD3 - 2 1 Shu Yau
00204567 - - - M - - Jewish-Ashkenazi - - - - GSD3 - 2 1 LOVD
00204568 - - - M - United Kingdom (Great Britain) - - - - - GSD3 - 2 1 Shu Yau
00204569 - - - F - United States African-American - - - - GSD3 severe 2 1 LOVD
00204570 - - 2nd patient, unrelated - - United States - - - - - GSD3 severe 2 1 LOVD
00204571 - - - F - Japan - - - - - GSD3 - 2 1 LOVD
00204572 - - affected brother of 223003-Pat2 M - United Kingdom (Great Britain) - - - - - GSD3 - 2 1 Shu Yau
00204573 - - affected brother of 223003-Pat1 M - United Kingdom (Great Britain) - - - - - GSD3 - 2 1 Shu Yau
00204574 - - - F - United States white - - - - GSD3 - 2 1 LOVD
00228778 - - - F no China - - - - - GSD3 hepatomegaly, short stature, and muscle weakness. She had experienced episodes of hypoglycaemia. 1 1 Wenjuan Qiu
00265255 - - - M - Spain - - - - - GSD3 - 2 1 Jorge Docampo Cordeiro
00281793 G1 - - M no (Nepal) - - - - - GSD3 Hepatomegaly (HP:0002240);short stature (HP:0004322); Jaundice (HP:0000952) Full cheeks (HP:0000293); Growth delay (HP:0001510) Lethargy (HP:0001254); Muscular hypotonia (HP:0001252); Hypertriglyceridemia (HP:0002155), Hypoglycemia (HP:0001943); Elevated hepatic transaminase (HP:0002910); Elevated serum creatine kinase (HP:0003236); 1 1 Shama Perveen
00285774 G3 - - F yes India - 02y - - - GSD3 - 1 2 Shama Perveen
00289451 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 27 Mohammed Faruq
00289452 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00289453 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00289454 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 2 Mohammed Faruq
00289455 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00289456 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 26 Mohammed Faruq
00289457 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00289458 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 21 Mohammed Faruq
00295235 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 24 Mohammed Faruq
00305334 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 2 Mohammed Faruq
00314025 - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - - - - LGMD - 1 2 Johan den Dunnen
00314026 - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - - - - LGMD - 1 2 Johan den Dunnen
00329082 P11 PubMed: Wang 2013 - M - United States - - - - - GSD see paper; ..., hepatomegaly 2 1 LOVD
00329084 P17 PubMed: Wang 2013 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United States - - - - - GSD see paper; ..., GSD III 2 1 LOVD
00329085 P18 PubMed: Wang 2013 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United States - - - - - GSD see paper; ..., GSD III 1 1 LOVD
00431570 SUDS027 PubMed: Neubauer 2021 - M - Switzerland - - - - - SUD acute heart failure 1 1 Johan den Dunnen
Legend   How to query  

  Powered by LOVD v.3.0 Build 29
LOVD software ©2004-2023 Leiden University Medical Center 		There are currently no updates.