All individuals with variants in gene GJC2

14 entries on 1 page. Showing entries 1 - 14.
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     
00055368 - - - - - - - - 0 - - HLD2;PMLD1 Pelizaeus-Merzbacher like disease 2 1 Michel van Geel
00055369 - - - - - - - - 0 - - HLD2;PMLD1 Pelizaeus-Merzbacher like disease 2 1 Michel van Geel
00055370 - - - - - - - - 0 - - HLD2;PMLD1 Pelizaeus-Merzbacher like disease 2 1 Michel van Geel
00055371 - - 2 affecteds sibs - yes Pakistan - - 0 - - HLD2;PMLD1 Pelizaeus-Merzbacher like disease 2 2 Michel van Geel
00055372 - - - - yes Pakistan - - 0 - - HLD2;PMLD1 Pelizaeus-Merzbacher like disease 2 2 Michel van Geel
00055373 - - - - - Algeria - - 0 - - HLD2;PMLD1 Pelizaeus-Merzbacher like disease 2 1 Michel van Geel
00055374 - - - - - Algeria - - 0 - - HLD2;PMLD1 Pelizaeus-Merzbacher like disease 2 1 Michel van Geel
00055375 - - - - - Italy - - 0 - - SPG44 spastic paraplegia 2 1 Michel van Geel
00055391 - - - - - - - - 0 - - LMPHM3 lymphedema 1 1 Michel van Geel
00055394 - - - - - - - - 0 - - LMPHM3 lymphedema 1 1 Michel van Geel
00231414 - - - - - - - - 0 - - SPG44 - 2 1 Gemeinschaftspraxis für Humangenetik Dresden
00307947 15DG2206 PubMed: Anazi 2017 familial F - - - - 0 - - ID see paper; ..., Developmental regression, Seizures, Ulnar deviation of the hand, Hyperreflexia, Strabismus, Leukodystrophy 1 1 Johan den Dunnen
00374328 S-5966 PubMed: Ganapathy 2019 - - - India - - 0 - - ? Developmental delay with regression, ataxic gait, dysarthria, nystagmus, hypotonia and leukodystrophy. 2 1 Johan den Dunnen
00374329 S-2754 PubMed: Ganapathy 2019 - - - India - - 0 - - ? Spasticity, global developmental delay, regression of milestones, nystagmus and leukodystrophy 1 1 Johan den Dunnen
Legend   How to query