All individuals with variants in gene SIL1

16 entries on 1 page. Showing entries 1 - 16.
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VIP     
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Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00000019 - PubMed: Almomani 2011 - - - - - - - - - autism, BMD/DMD, TSC - 3 1 Global Variome, with Curator vacancy
00050575 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - ? intellectual disability, seizures 1 1 Johan den Dunnen
00054666 - PubMed: O'Grady 2016 2-generation family, unaffected heterozygous carrier parents M - Australia - >20y - - - MDC gross motor delay, walked with support at 4y, ataxia, congenital cataracts, cerebellar hypoplasia and atrophy; CPK mild elevation (215-309); histology non-specific 2 1 Sandra Cooper
00293758 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00361688 11DG1735 PubMed: Anazi 2017 familial M yes Saudi Arabia - - - - - ID syndromic; global developmental delay, Joubert syndrome MRI findings 1 1 Johan den Dunnen
00374490 S-3696 PubMed: Ganapathy 2019 - - - India - - - - - ? Cataract, cerebellar ataxia and global developmental delay 1 1 Johan den Dunnen
00374491 S-3981 PubMed: Ganapathy 2019 - - - India - - - - - ? Global developmental delay with features suggestive of cerebellar ataxia 1 1 Johan den Dunnen
00374492 S-5077 PubMed: Ganapathy 2019 - - - India - - - - - ? Cerebellar ataxia and cataract 1 1 Johan den Dunnen
00385464 14022248 PubMed: Lenassi 2020 retrospective analysis M - (United Kingdom (Great Britain)) - - - - - retinal disease - 1 1 LOVD
00388691 Pat42 PubMed: Chakravorty 2020 - F - India India - - - - MYOP proximal muscle weakness; CK level 10500 IU/L; Difficulty running, change in gait, wasting of calves, biceps lump; Most-affected muscles: Gastrocnemius, Iliopsoas, hip adductors, hamstrings and quadriceps; no cardiac involvement; 24y-ambulant 1 1 Johan den Dunnen
00434095 patients PubMed: Li 2016 - - - China - - - - - CTRCT - 1 1 Johan den Dunnen
00444977 14DG0727 PubMed: Patel 2017 family - - - - - - - - CTRCT pediatric cataract as part of Marinesco Sjogren syndrome; syndromic 1 1 Johan den Dunnen
00444979 14DG1505 PubMed: Patel 2017 simplex case - - - - - - - - CTRCT pediatric cataract as part of Marinesco Sjogren syndrome; syndromic 1 1 Johan den Dunnen
00445004 Pat18 PubMed: Reis 2013 family, 2 affected - - United States white - - - - CTRCT congenital cataract; microphthalmia/ microcornea, glaucoma, corneal opacity 1 1 Johan den Dunnen
00445351 Fam6PatII1 PubMed: Jones 2003, PubMed: Annesi 2007 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents; segregation of two diseases M - Italy - - - - - CMRD, MSS see paper; ..., cataracts, ataxia, delayed growth, mental retardation, see paper; ..., failure to thrive in infancy 1 2 Johan den Dunnen
00445352 Fam6PatII2 PubMed: Jones 2003, PubMed: Annesi 2007 brother M - Italy - - - - - CMRD, MSS see paper; ..., cataracts, ataxia, delayed growth, mental retardation, see paper; ..., failure to thrive in infancy 1 1 Johan den Dunnen
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