All individuals with variants in gene GOLGA2

2 entries on 1 page. Showing entries 1 - 2.
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     
00218354 22012984-Fam PubMed: Weterman 2012, PubMed: Aerts 2015 3-generation family, 11 affected (5F, 6M) heterozygous carriers F;M no Netherlands - - - - - CMT see paper; phenotype includes late-onset Parkinson’s disease, ... 1 11 Johan den Dunnen
00301713 17-1853 PubMed: Maddirevula 2019 - F - - - - - - - ? global developmental delay, microcephaly (head circumference 41.5 cm at 4 yrs and 42.5 at age 11). Best motor milestone achieved was sitting unsupported. She has brisk deep tendon reflexes with clonus. She has unique redness or erythema of the feet and hands secondary to probably autonomic dysfunction. The limbs also are cold on examination. Raynaud's phenomenon was not noted, however. She has profound language delay, vision is unaffected. She has motor weakness affecting lower extremities more than upper ones with joint contractures evolving later with finger flexor contractures, elbow contractures. She has good social/eye contact but has stereotypes with hand clapping and shaking. No seizures. Her clinical course was relatively static with no clear regression. Her CK was elevated. 1 1 Johan den Dunnen
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.