All individuals with variants in gene CELF2

5 entries on 1 page. Showing entries 1 - 5.
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00301343 Pat1 PubMed: Itai 2021, Journal: Itai 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M no China - - - - - ? 12m-eye-tracking, 12m-social smile; no speech, no two-word sentences; 7m-stable head and neck, never crawled; 2y-sitting alone, never walked; intellectual disability; no autistic features; 7.5m onset early infantile epileptic encephalopathy; no dysmorphology; no cardiac features; hypotonia; tremor; mild thoracic scoliosis; nystagmus, astigmatism; swallowing issue; MRI brain normal 1 1 Toshiyuki Itai
00301344 Pat2 PubMed: Itai 2021, Journal: Itai 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Malaysia - - - - - ? never eye-tracking, never social smile; no speech, no two-word sentences; 2y-stable head and neck, 20m-rolling over, 3y-crawled; 2y-sitting alone, 4y-walked; intellectual disability; autistic features; 2.5m onset early infantile epileptic encephalopathy; no dysmorphology; no cardiac features; no motor/neurological findings; no involuntary movement; no skeletal anomalies; myopia; MRI brain normal 1 1 Toshiyuki Itai
00301345 Pat3 PubMed: Itai 2021, Journal: Itai 2021 2-generation family, 1 affected, unaffected heterozygous carrier father/mosaic mother F no Japan - - - - - ? eye-tracking; speech, two-word sentences; stable head and neck control, rolling-over, crawled; sitting alone, walked; intellectual disability; autistic features; 4m onset West syndrome; no dysmorphology; no cardiac features; no motor/neurological findings; hand wringing; no skeletal anomalies; MRI brain normal 1 1 Toshiyuki Itai
00301346 Pat4 PubMed: Itai 2021, Journal: Itai 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Romania - - - - - ? 16m-eye-tracking; no speech, no two-word sentences; 16m-stable head and neck, 2y-rolling over, 3y-crawled; never sitting alone, never walked; intellectual disability; autistic features; 4m onset early infantile epileptic encephalopathy; no dysmorphology; no cardiac features; hypotonia; no involuntary movement; no skeletal anomalies; visual perceptual disorder; elevated lactate; MRI brain abnormal 1 1 Toshiyuki Itai
00307405 Pat5 PubMed: Itai 2021, Journal: Itai 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Switzerland Europe - - - - ? <4y limited speech, <7y two-word sentences; 7m-sitting alone, 11m-walked; intellectual disability; autistic features; no epilepsy; no dysmorphology; mild mitral valve prolapse; no motor/neurological findings; no involuntary movement; mild scoliosis 1 1 Toshiyuki Itai
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