All individuals with variants in gene TBR1

3 entries on 1 page. Showing entries 1 - 3.
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AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Variants     

Panel size     

Owner     
00019839 - PubMed: Gilissen 2014 - ? ? ? (unknown) - - 0 - - ID developmental delay, no major dysmorphisms, no ocular anomalies, no pituitary deficiency 1 1 Marianne Vos (LOVD-team)
00019910 - PubMed: Gilissen 2014 - ? ? ? (unknown) - - 0 - - ID severe hypotonia, severe motor delay and speech delay, deficient gyration frontal region, mild periventricular white matter abnormalities 1 1 Marianne Vos (LOVD-team)
00132962 - - - M - (Germany) - - 0 - - - HP:0001263 (Global developmental delay) 1 1 IMGAG
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