All individuals with variants in gene HPRT1

4 entries on 1 page. Showing entries 1 - 4.
Legend   How to query  

AscendingIndividual ID     

Reference     

Gender     

Geographic origin     

Ethnic origin     

Population     

Remarks     

Microattribution     

Disease     

Phenotype details     

Variants     

Panel size     

Owner     
00000789 Bee C Chen et al.(2014) M Malaysia Malay - - - LNS severe limb spasticity, dystonia and failure to thrive (weight <3rd percentile). A brain MRI had showed bilateral fronto-temporal atrophy. 1 1 Nur Aisyah Athirah
00000790 Bee C Chen et al.(2014) F Malaysia Malay - - - LNS Medullary nephrocalcinosis were noted at 2 years of age. She failed to thrive, was globally delayed and had significant dystonia by 3 years 6 months of age 1 1 Nur Aisyah Athirah
00000791 Bee C Chen et al.(2014) M Malaysia Malay - - - LNS clearly displayed significant dystonia and limb hypertonicity 1 1 Nur Aisyah Athirah
00000792 Bee C Chen et al.(2014) M Malaysia Malay - - - LNS - 1 1 Nur Aisyah Athirah
Legend   How to query