All individuals with variants in gene VARS

4 entries on 1 page. Showing entries 1 - 4.
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00150104 - - 2-generation family, 2 affected siblings; the affected individual manifested with progressive postnatal microcephaly, cerebral atrophy, seizures, developmental delay, micrognathia and speech delay. OMIM number has not yet been assigned since this a novel unpublished genetic cause. M no India Asian - - - - ? microcephaly (HP:0000253), seizures (HP:0040168), developmental delay (HP:0001263) 2 1 Joshi Stephen
00150230 26539891-FamBAB3186 PubMed: Karaca 2015 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F yes Turkey - - - family structure in paper - ? intellectual diability, microcephaly, cortical atrophy, CCH, seizures 1 2 Johan den Dunnen
00150231 26539891-FamBAB3643 PubMed: Karaca 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Turkey - - - - - ? intellectual diability, microcephaly, cortical atrophy, seizures 1 1 Johan den Dunnen
00361906 - - - - - - - - - - - AGS, NDMSCA Global developmental delay, seizures, spasticity, microcephaly, T2W focal hyperintensities suggestive of calcifications on MRI 2 1 Anju Shukla
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