All individuals with variants in gene DAK

5 entries on 1 page. Showing entries 1 - 5.
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     
00281798 Fam1PatII1 PubMed: Wortmann 2020, Journal: Wortmann 2020 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F yes India Gujarati - - - - MPD see paper; ..., multisystem disease, congenital nuclear cataracts, developmental delay, motor delay 1 2 Johan den Dunnen
00281799 Fam1PatII2 PubMed: Wortmann 2020, Journal: Wortmann 2020 - F yes India Gujarati - - - - MPD see paper; ..., congenital cataracts 1 1 Johan den Dunnen
00281800 Fam2PatII1 PubMed: Wortmann 2020, Journal: Wortmann 2020 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents F yes Turkey - - - - - MPD see paper; ..., delayed speech development, learning difficulties, no cataracts 1 2 Johan den Dunnen
00281801 Fam2PatII2 PubMed: Wortmann 2020, Journal: Wortmann 2020 - M yes Turkey - - - - - MPD see paper; ..., global developmental delay 1 1 Johan den Dunnen
00407086 Familial albinism_F1 - 3-generation family, one affected child (AR), father (carrier), mother (carrier), grandfather (carrier), grandmother (normal), mother's father (carrier), and grandmother (normal) M yes Egypt - - - - - OCA1 HP:0007663 Reduced visual acuity HP:0002286 fair hair HP:0002227 White eyelashes HP:0002226 White eyebrow HP:0001010 hypopigmentation of the skin HP:0001107 ocular albinism HP:0000316 hypertelorism HP:0000414 bulbous nose HP:0000369 low-set ears HP:0000767 pectus excavatum HP:0001188 clenched fist HP:0001762 bilateral talipes equinovarus (TEV) deformity HP:0008081 left pesplanovalgus deformity HP:0006380 bilateral knee flexion deformity HP:0001627 congenital heart disease HP:0001057 Aplasia cutis congenita HP:0006714 absent sternum HP:0001639 hypertrophic cardiomyopathy 1 1 Alaaeldin Fayez
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.