All individuals with variants in gene TOR1AIP1

12 entries on 1 page. Showing entries 1 - 12.
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VIP     

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Owner     
00103978 - - - - no - - - - - - ? - 2 1 Davor Lessel
00103987 24856141-Fam PubMed: Kayman-Kurekci 2014, Journal: Kayman-Kurekci 2014 4-generation family, 3 affecteds (2F, M), unaffected heterozygous carrier parents/sibs F;M yes Turkey - - - - - MRRSDC;LGMD2Y see paper; ..., proximal/distal weakness/atrophy, rigid spine, contractures proximal/distal interphalangeal hand joints, cardiomyopathy, respiratory involvement 1 3 Johan den Dunnen
00103988 25425325-FamPatV1 PubMed: Dorboz 2014, Journal: Dorboz 2014 5-generation family, 1 affected, unaffected heterozygous carrier parents/sibs M yes Morocco - - - - - ? see paper; ..., rapidly progressing dystonia, progressive cerebellar atrophy, dilated cardiomyopathy 1 1 Johan den Dunnen
00208776 - - - - - Israel Arab Muslim - - - - CCTRCT congenital cataract congenital heart defects profound infantile onset neurological impairment growth retardation congenital hypotonia deafness microcephaly facial dysmorphism 1 7 Ronen Spiegel
00265906 PatD4 PubMed: Cummings 2017 - - - - - - - - - MD - 2 1 Johan den Dunnen
00289605 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 3 Mohammed Faruq
00289606 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 49 Mohammed Faruq
00289607 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 5 Mohammed Faruq
00295550 - - - M - - - - - - - ? Myofibrillar myopathy (HP:0003715) 1 1 Andreas Laner
00304167 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00409362 CDC_NM7.1 PubMed: Hong 2022 - M - Korea - - - - - LGMD see paper; ..., (HP:0006466) Ankle contracture, (HP:0003546) Exercise intolerance, (HP:0008180) Mildy elevated creatine kinase, (HP:0030951) Skeletal muscle fibrosis, (HP:0009058) Increased muscle lipid content, (HP:0003557) Increased variability in muscle fiber diameter 1 1 Johan den Dunnen
00467539 SPK13 PubMed: Khan 2024, Journal: Khan 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Pakistan - - - - - LIS severe hearing loss 1 1 Hina Khan
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