All individuals with variants in gene GEMIN4

9 entries on 1 page. Showing entries 1 - 9.
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     
00225704 25558065-Fam08DG00485 PubMed: Alazami 2015, Journal: Alazami 2015 4-generation family, 2 affected (F, M), unaffected heterozygous carrier parents/relatives F;M yes Saudi Arabia - - - - - ? see paper; …, global developmental delay, severe dystonia, and congenital cataract 1 2 Johan den Dunnen
00225705 25558065-Fam10DG0703 PubMed: Alazami 2015, Journal: Alazami 2015 4-generation family, 2 affected (2F), unaffected heterozygous carrier parents/relatives F yes Saudi Arabia - - - - - ? see paper; …, global developmental delay and congenital cataract 1 2 Johan den Dunnen
00225706 25558065-Fam13DG1542 PubMed: Alazami 2015, Journal: Alazami 2015 4-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents/relatives F;M yes Saudi Arabia - - - - - ? see paper; …, global developmental delay, congenital cataract, tubulopathy, and severe osteopenia 1 3 Johan den Dunnen
00301712 17-3434 PubMed: Maddirevula 2019 - F - - - - - - - ? 6y-global developmental delay. Her birth was normal. Developmental delay was suspected in infancy. At the age of 12 months she was able to sit without support and started walking at the age of 2 years. Speech was significantly delayed and she only speaks with difficulty. Spells (?seizures) started at the age of 2 years for which she was successfully treated with Depakene at the local hospital. Patient has history of bilateral cataracts and she underwent bilateral lens extraction. Family history is significant for consanguinity, and the parents have two other children with similar course with variable severity. Brain MRI revealed small atrophic cerebellum with prominence of the posterior fossa CSF spaces. 1 1 Johan den Dunnen
00361559 08DG00485 PubMed: Anazi 2017 familial F yes Saudi Arabia - - - - - ID syndromic; global developmental delay, congenital cataract 1 1 Johan den Dunnen
00444938 10DG0703 PubMed: Patel 2017 family - - - - - - - - CTRCT cataract and severe global developmental delay; syndromic 1 2 Johan den Dunnen
00444960 11DG2480 PubMed: Patel 2017 family - - - - - - - - CTRCT congenital cataract, global developmental delay, epilepsy, mild epiphyseal dysplasia, nephrocalcinosis, brain hypomyelination and callosal thinning; syndromic 1 2 Johan den Dunnen
00444972 13DG1542 PubMed: Patel 2017 family - - - - - - - - CTRCT congenital cataract, global developmental delay, tubulopathy and severe osteopenia; syndromic 1 2 Johan den Dunnen
00444982 14DG2265 PubMed: Patel 2017 simplex case - - - - - - - - CTRCT cataract, global developmental delay, ataxia; syndromic 1 2 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.