EGAGenomicsExome Sequencinghttps://ega-archive.org/studies/EGAS00001003968EGAEGA study EGAS00001003968Intellectual disability exome sequencingEGArestrictedIntellectual Development Disorders, Mental, Intellectual Development Disorder, Retardation, Parent, Mental Retardation, Disorders, Disabilities, Step Parents, Mental Deficiencies, MENTAL DEFIC, Parental Age, Disability, Intellectual Disabilities, Deficiencies, Parental, Low intelligence, Poor school performance, Dull intelligence, Idiocy, Parental Ages, Intellectual, Stepparent, Development Disorders, Intellectual Disability, Age, Psychosocial Mental, Status, Parenthood., Psychosocial, Psychosocial Mental Retardations, Deficiency, Mental Deficiency, Psychosocial Mental Retardation, Ages, Disorder, Psychosocial intellectual disability, Step-Parents, Development Disorder, Step-Parent, DEFIC MENTAL, Parenthood Status, Retardations, Mental Retardations, Intellectual Development, Stepparents, intellectual disabilityMacias-Flores Garcia-Cruz Rivera syndrome, TRIO, chromosome Xq27.1 Interchromosomal insertion syndrome, Complete Exome Sequencings, cHILD, young adult, pediatric interstitial lung disease, Complete Exome, M89, Exome, CG9208, 1386/06, UNC-73/Trio, congenital generalized, Exome Sequencing, 0368/10, CHILD, chromosome Xq27.1 interchromosomal insertion syndrome, hypertrichosis, Whole Transcriptome, Transcriptome Sequencing, l(3)S138606, l(3)S036810, interstitial lung disease of childhood, child, l(3)trio, ARHGEF23, WES, Complete Transcriptome, Complete, Complete Transcriptome Sequencing, Exome Sequencings, BEST:LD36950, ILD specific to childhood, hCG, Complete Exome Sequencing, Whole Transcriptome Sequencing, l(3)036810, tgat, l(3)S137203, chILD syndrome, Children, CG18214, paediatric interstitial lung disease, Sequencing, l(3)S095914, juvenile stage, Trio, DmelCG18214, 1372/03, Cgh, Whole Exome, l(3)S[1386/06], congenital generalised, hypertrichosis congenital generalized X-linked, children's interstitial lung disease, Whole, childhood interstitial lung disease, DTrio, Whole Exome Sequencing, l(3)S[1372/3], l(3)6D104, 0959/14, microarray, chILD., hypertrichosis congenital generalised X-linked, HTC2, Transcriptome SequencingsfalseIntellectual Disability cases with parents (trios) or affected sibs (sibpairs)Samples from ID cases negative for CNV through array-CGH were submitted to exome sequencing. Families with one affected individual underwent trio exome sequencing for identification of de novo variants. Families with more than one affected child underwent sibpair sequencing for identificatio of shared recessive or x-linked variants.2020-09-14 11:42:18EGAS000010039689606EGAD00001005442EGAC00001000438