All individuals with variants in gene TBX6

6 entries on 1 page. Showing entries 1 - 6.
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00050370 - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected mother/child M - United Kingdom (Great Britain) - - - Decipher - ? cleft palate, micrognathia, upslanted palpebral fissure, obesity, global developmental delay 1 2 Johan den Dunnen
00050653 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - ? global developmental delay, specific learning disability, constipation, hypoplasia of dental enamel 1 1 Johan den Dunnen
00050683 - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected sibling(s) M - United Kingdom (Great Britain) - - - Decipher - ? microcephaly, abnormality of the outer ear, prominent metopic ridge, narrow mouth, inferior vermis hypoplasia, delayed speech and language development 1 2 Johan den Dunnen
00088168 - - - M no Japan Japanese - - - - ? congenital scoliosis (butterfly vertebrae HP:0002937), convulsive seizure, dysarthria 1 1 Kazuki Takeda
00326951 MRK639 PubMed: Chen 2021, Journal: Chen 2021 - F - China Han - - - - MRKHS see paper; ..., vertebral malformation 1 1 Johan den Dunnen
00390025 3 PubMed: Ruberto 2020 - ? - Italy - - - - - retinal disease Pale and tilted optic disk associated to hypoplasia, tortuous retinal vessels, non-homogeneous macula 1 1 LOVD
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