All individuals with variants in gene DUT

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     
00415203 Fam1 PubMed: Tummala 2022, Journal: Tummala 2022 2 generation family, 5 affected (2F, 3M), unaffected heterozygous carrier parents F;M yes Sudan - - - - - ? abnormal skin pigmentation; no nail dystrophy, no leucoplakia; no hair loss; no thin eye lashes; pancytopenia, hypocellular bone marrow with dyserythropoiesis; no immune defects; no learning difficulties; no developemental delay; no microcephaly; insulin dependent diabetes mellitus on oxymetholone therapy at 10y progressed to myelodysplasia with monosomy 7 1 5 Johan den Dunnen
00415204 Fam2 PubMed: Tummala 2022, Journal: Tummala 2022 2 generation family, 1 affected, unaffected heterozygous carrier parents M no Scotland - - - - - ? abnormal skin pigmentation; nail dystrophy, no leucoplakia; no hair loss; no thin eye lashes; 16y-blood transfusion dependent, lympopenic, bone marrow hypercellular with dyserythropoiesis, splenomegaly; no learning difficulties; no developmental delay; no microcephaly; abnormal face, small jaw, overcrowded teeth, groth restriction, short stature, hypogonadism 2 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.