All individuals with variants in gene TBR1

4 entries on 1 page. Showing entries 1 - 4.
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AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

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Population     

Age at 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 - - ? Global developmental delay (HP:0001263); Seizures (HP:0001250); Abnormality of movement (HP:0100022); Abnormality of the cerebral cortex (HP:0002538); Sleep disturbance (HP:0002360); Restlessness (HP:0000711) 1 1 IMGAG
00302781 121.83 PubMed: Hamdan 2015 - F - Canada - - 0 - - ID severe intellectual disability; no speech; walk-6.5y; 1 partial complex seizure; autistic features; no microcephaly; no macrocephaly; MRI brain increased CSF spaces; no neurological abnormalities; no congenitial malformations; no cardiac malformations; no urogenitory abnormalities 1 1 Johan den Dunnen
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