All individuals with variants in gene DACT1

14 entries on 1 page. Showing entries 1 - 14.
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00092289 28054444-Fam PubMed: Web 2017, Journal: Web 2017 3-generation family, 5 affecteds (4F, M) F;M no United States - - 0 - - ? see paper; ..., features overlapping Townes–Brocks syndrome, imperforate anus, structural renal abnormalities, genitourinary anomalies, ear anomalies 1 5 Bryn Webb
00106647 - - - F - China Chinese - 0 - - NTD Neural tube defects; Anencephalus, occipital cervical thoracic lumbal spinal bifida aperta, left eye exophthalmos, lung lobe deformity 1 1 Yunping Lei
00106648 - - - F - China Chinese - 0 - - NTD Neural tube defects; Complete anencephalus, whole spinal bifida aperta; absence of neck; thorax deformity; both upper limb overlength; lung lobe deformity (both lungs deformity of having one lobe each), atelectasis 1 1 Yunping Lei
00106649 - - - F - China Chinese - 0 - - NTD Neural tube defects; Anencephalus, cervial occipital spina bifida aperta; atrial septal defect; left lung lobe deformity; bilateral adrenal dysplasia; atelectasis 1 1 Yunping Lei
00106650 - - - F - China Chinese - 0 - - NTD Neural tube defects 1 1 Yunping Lei
00106651 - - - - - China Chinese - 0 - - NTD Neural tube defects 1 1 Yunping Lei
00303418 PatV005 Christians ESHG2020 C14.2 2-generation family, 1 affected, unaffected heterozygous carrier mother M - - - - 0 - - ? see paper; ... 1 1 Johan den Dunnen
00303419 PatC003 Christians ESHG2020 C14.2 2-generation family, 1 affected, unaffected heterozygous carrier mother M - - - - 0 - - ? see paper; ... 1 1 Johan den Dunnen
00303420 PatT004 Christians ESHG2020 C14.2 2-generation family, 2 affected (2M), unaffected heterozygous carrier mother M - - - - 0 - - ? see paper; ... 1 1 Johan den Dunnen
00303421 PatN032 Christians ESHG2020 C14.2 2-generation family, 1 affected, unaffected heterozygous carrier mother F - - - - 0 - - ? see paper; ... 1 1 Johan den Dunnen
00303422 PatN062 Christians ESHG2020 C14.2 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes - - - 0 - - ? see paper; ... 1 2 Johan den Dunnen
00303423 PatH452 Christians ESHG2020 C14.2 2-generation family, 1 affected, unaffected heterozygous carrier mother F - - - - 0 - - ? see paper; ... 1 1 Johan den Dunnen
00303424 PatH402 Christians ESHG2020 C14.2 2-generation family, 1 affected, unaffected heterozygous carrier mother and sister F - - - - 0 - - ? see paper; ... 1 1 Johan den Dunnen
00303425 PatB036 Lahrouchi ESHG2020 C05.3 2-generation family, 1 affected, unaffected heterozygous carrier mother M - - - - 0 - - ? see paper; ... 1 1 Johan den Dunnen
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