All individuals with variants in gene DNA2

7 entries on 1 page. Showing entries 1 - 7.
Legend  

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Variants     

Panel size     

Owner     
00004055 - PubMed: Shaheen 2014, Journal: Shaheen 2014 3-generation family, affected uncle (II5)/nephew (III1), unaffected carrier parents (2) and relatives (1) M yes Saudi Arabia Arab - 0 - - SCKL characteristic Seckel facies, severe kyphoscoliosis leading to spinal cord compression and paraplegia, global developmental delay and intellectual disability 1 5 Fowzan Alkuraya
00208763 - - - M - Germany - - 0 - - - HP:0003198 (Myopathy) 1 1 Andreas Laner
00208791 - - - M - Germany - - 0 - - - HP:0001939 (Abnormality of metabolism/homeostasis); HP:0000508 (Ptosis); HP:0002015 (Dysphagia); HP:0000651 (Diplopia); HP:0012373 (Abnormal eye physiology); HP:0001611 (Nasal speech); HP:0003124 (Hypercholesterolemia); HP:0012638 (Abnormality of nervous system physiology); HP:0001608 (Abnormality of the voice); HP:0003011 (Abnormality of the musculature); HP:0410011 (Abnormality of masticatory muscle); HP:0000504 (Abnormality of vision) 1 1 Andreas Laner
00225597 - Journal: Tarnauskaite 2019 - F yes Italy - - 0 - - MOPD see paper; ... 1 1 David A. Parry
00225620 - Journal: Tarnauskaite 2019 - F - - - - 0 - - MOPD see paper; ... 1 1 David A. Parry
00225622 P3 Journal: Tarnauskaite 2019 - F no United States - - 0 - - MOPD see paper; ... 2 1 David A. Parry
00225623 P4 Journal: Tarnauskaite 2019 - M no India - - 0 - - MOPD see paper; ... 1 1 David A. Parry
Legend