All individuals with variants in gene COG6

4 entries on 1 page. Showing entries 1 - 4.
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AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00361686 11DG1494 PubMed: Anazi 2017 familial M yes Saudi Arabia - - - - - ID syndromic; global developmental delay, anhidrosis, hperkeratotic palms and soles, severe dental caries 1 1 Johan den Dunnen
00361687 11DG0268 PubMed: Anazi 2017 familial M yes Saudi Arabia - - - - - ID syndromic; intellectual disability, anhidrosis, hyperkeratotic palms and soles, severe dental caries 1 1 Johan den Dunnen
00467638 Pat22 PubMed: Elmas 2019 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents M yes Turkey - - - - - ? see paper; ..., neurological disorders, multiple congenital anomalies; mental motor retardation, seizure, microcephaly, patent ductus arteriosus, cryptorchidism, hypothyroidism; abcent of MRI; operate patent ductus arteriosus 1 2 Johan den Dunnen
00467639 Pat23 PubMed: Elmas 2019 2-generation family, 2 affected female cousins, unaffected heterozygous carrier parents F yes Turkey - - - - - ? see paper; ..., intra-uterine growth retardation; mental motor retardation, iugr, perinatal asphyxia, microcephaly, seizure, patent ductus arteriosus, bilateral iris coloboma, hypothyroidism, horizontal nystagmus; abcent of MRI; operate patent ductus arteriosus 1 2 Johan den Dunnen
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