All individuals with variants in gene LARP7

6 entries on 1 page. Showing entries 1 - 6.
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     
00000145 - - - ? ? Saudi Arabia - - - - - SPD - 1 1 Anas M Alazami
00080897 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - ALAZS Alazami syndrome (OMIM:615071) 1 1 Daniel Trujillano
00150153 26539891-FamBAB5283 PubMed: Karaca 2015 - - - - - - - family structure in paper - ? intellectual diability, brachydactyly, ASD and PS+PFO 1 2 Johan den Dunnen
00276129 1283 - - M yes Italy - 11y - - - ? - 1 1 Pietro Palumbo
00307105 - - - F - - - - - - - ? Global developmental delay (HP:0001263); Short stature (HP:0004322); Microcephaly (HP:0000252); Hypoplasia of the corpus callosum (HP:0002079); Failure to thrive (HP:0001508); Behavioral abnormality (HP:0000708); Ataxia (HP:0001251); Blue sclerae (HP:0000592) 2 1 IMGAG
00387786 M8600217 PubMed: Hu 2019 family, 2 affected individuals, first cousin parents - yes Iran Persia - - - - ID syndromic intellectual disability, microcephaly 1 2 Johan den Dunnen
Legend   How to query