All individuals with variants in gene MECR

8 entries on 1 page. Showing entries 1 - 8.
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00240406 example 1 PubMed: Fresard 2019 2-generation family, 2 affected brothers M - Canada - - 0 - - ? 6m-delayed motor milestones, hypotonia evolving to spasticity, ataxic gait, progressive loss of motor skills 2 2 Johan den Dunnen
00240409 FamA PubMed: Heimer 2016 2-generation family, 1 affected M no - Ashkenazi jewish - 0 - - DYT see paper; …, onset dystonia early childhood, onset optic atrophy mid childhood, no intellectual disability; MRI bilateral hyperintense T2 signal putamen 2 1 Johan den Dunnen
00240410 FamB PubMed: Heimer 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents M no - Ashkenazi jewish (Morocco/India);Ashkenazi jewish - 0 - - DYT see paper; …, 15m-onset dystonia; no optic atrophy, no intellectual disability; MRI bilateral hyperintense pallidal T2 signal 2 1 Johan den Dunnen
00240411 FamCPatII2 PubMed: Heimer 2016 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M no - Ashkenazi jewish - 0 - - DYT see paper; …, 2y-3y-onset dystonia; 8y onset optic atrophy, no intellectual disability; MRI bilateral hyperintense T2 signal dorsal striatum 2 2 Johan den Dunnen
00240412 FamCPatII8 PubMed: Heimer 2016 Pat2 M no - Ashkenazi jewish - 0 - - DYT see paper; …, 5y-onset dystonia; 12y onset optic atrophy, no intellectual disability 2 1 Johan den Dunnen
00240413 FamD PubMed: Heimer 2016 2-generation family, 1 affected F no Tunisia - - 0 - - DYT see paper; …, 6y6m-onset dystonia; 6y6m-onset optic atrophy, no intellectual disability (mild concentration difficulties); MRI bilateral hyperintense T2 signal dorsal putamen 1 1 Johan den Dunnen
00240414 FamEPatII1 PubMed: Heimer 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United Kingdom (Great Britain) Anglo-Saxon - 0 - - DYT see paper; …, 23m-onset dystonia; 6y-onset optic atrophy; deterioration linguistic skills and executive functions to extremely low range (9y); MRI bilateral hyperintense pallidal T2 signal with cavitation and lactate peak on MRS 2 2 Johan den Dunnen
00240415 FamEPatII3 PubMed: Heimer 2016 Pat2 M - United Kingdom (Great Britain) Anglo-Saxon - 0 - - DYT see paper; …, 3y-onset dystonia; 5y-onset optic atrophy; low average verbal comprehension with extremely low function on other WISC IV indices; MRI bilateral hyperintense pallidal T2 signal with lactate peak on MRS 2 1 Johan den Dunnen
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