All individuals with variants in gene POLR1A

23 entries on 1 page. Showing entries 1 - 23.
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00080690 - - - M yes Turkey Anatolian - - - - ? ataxia, cerebellar and cerebral atrophy, psychomotor retardation and leukodystrophy 1 1 Cigdem Koroglu
00435067 FamPat1 PubMed: Smallwood 2023, Journal: Smallwood 2023 2-generation family, 2 affected brothers, unaffected non-carrier mother M - - - 3m - - - ? see paper; ..., 3m-deceased; cleft lip/palate; craniosynostosis; no hypertelorism; no micrognathia; no congenital heart disease; no developmental delay; no infantile spasms/epilepsy; no limb defects; no abnormal muscle tone; father bitemporal narrowing, prominent metopic ridge 1 1 Johan den Dunnen
00435068 FamPat2 PubMed: Smallwood 2023, Journal: Smallwood 2023 brother M - - - - - - - ? see paper; ..., cleft lip/palate; craniosynostosis; no hypertelorism; no micrognathia; no congenital heart disease; no developmental delay; no infantile spasms/epilepsy; no limb defects; no abnormal muscle tone; father bitemporal narrowing, prominent metopic ridge 1 1 Johan den Dunnen
00435069 Pat3 PubMed: Smallwood 2023, Journal: Smallwood 2023 2-generation family, 1 affected, unaffected non-carrier parents F - Australia - 56d - - - ? see paper; ..., 56d-deceased; no cleft lip/palate; no craniosynostosis; hypertelorism; micrognathia; no congenital heart disease; no developmental delay; no infantile spasms/epilepsy; no limb defects; abnormal muscle tone 1 1 Johan den Dunnen
00435070 FamPat4 PubMed: Smallwood 2023, Journal: Smallwood 2023 2-generation family, affected mother/son M - United States - - - - - ? see paper; ..., no cleft lip/palate; no craniosynostosis; hypertelorism; no micrognathia; congenital heart disease; developmental delay; no infantile spasms/epilepsy; no limb defects; abnormal muscle tone 1 1 Johan den Dunnen
00435071 FamPat5 PubMed: Smallwood 2023, Journal: Smallwood 2023 mother F - - - - - - - ? see paper; ..., no cleft lip/palate; no craniosynostosis; hypertelorism; no micrognathia; congenital heart disease; no developmental delay; no infantile spasms/epilepsy; no limb defects; abnormal muscle tone 1 1 Johan den Dunnen
00435072 FamPat6 PubMed: Smallwood 2023, Journal: Smallwood 2023 2-generation family, affected mother/daughter F - - - - - - - ? see paper; ..., no cleft lip/palate; no craniosynostosis; hypertelorism; micrognathia; no congenital heart disease; no developmental delay; no infantile spasms/epilepsy; no limb defects; no abnormal muscle tone 1 1 Johan den Dunnen
00435073 FamPat7 PubMed: Smallwood 2023, Journal: Smallwood 2023 mother F - - - - - - - ? see paper; ..., cleft lip/palate; no craniosynostosis; hypertelorism; micrognathia; no congenital heart disease; no developmental delay; no infantile spasms/epilepsy; no limb defects; no abnormal muscle tone 1 1 Johan den Dunnen
00435074 Pat8 PubMed: Smallwood 2023, Journal: Smallwood 2023 2-generation family, 1 affected, unaffected non-carrier parents M - - - 2y - - - ? see paper; ..., 2y-deceased; cleft lip/palate; no craniosynostosis; hypertelorism; no micrognathia; congenital heart disease; developmental delay; infantile spasms/epilepsy; limb defects; abnormal muscle tone 1 1 Johan den Dunnen
00435075 Pat9 PubMed: Smallwood 2023, Journal: Smallwood 2023 2-generation family, 1 affected, carrier father/paternal grandfather M - - - - - - - ? see paper; ..., no cleft lip/palate; no craniosynostosis; hypertelorism; no micrognathia; no congenital heart disease; no developmental delay; infantile spasms/epilepsy; no limb defects; no abnormal muscle tone 1 1 Johan den Dunnen
00435076 Pat10 PubMed: Smallwood 2023, Journal: Smallwood 2023 2-generation family, 1 affected, unaffected carrier father F - - - - - - - ? see paper; ..., no cleft lip/palate; no craniosynostosis; hypertelorism; micrognathia; congenital heart disease; developmental delay; no infantile spasms/epilepsy; limb defects 1 1 Johan den Dunnen
00435077 Pat11 PubMed: Smallwood 2023, Journal: Smallwood 2023 2-generation family, 1 affected, unaffected non-carrier parents M - Germany - - - - - ? see paper; ..., no cleft lip/palate; no craniosynostosis; hypertelorism; no micrognathia; no congenital heart disease; developmental delay; no infantile spasms/epilepsy; no limb defects; abnormal muscle tone 1 1 Johan den Dunnen
00435078 Pat12 PubMed: Smallwood 2023, Journal: Smallwood 2023 2-generation family, 1 affected, unaffected carrier mother M - - - - - - - ? see paper; ..., no cleft lip/palate; no craniosynostosis; no hypertelorism; no micrognathia; congenital heart disease; developmental delay; no infantile spasms/epilepsy; limb defects; no abnormal muscle tone 1 1 Johan den Dunnen
00435079 Pat13 PubMed: Smallwood 2023, Journal: Smallwood 2023 2-generation family, 1 affected, unaffected non-carrier parents M - United States - - - - - ? see paper; ..., no cleft lip/palate; no craniosynostosis; hypertelorism; no micrognathia; no congenital heart disease; developmental delay; infantile spasms/epilepsy; limb defects; abnormal muscle tone 1 1 Johan den Dunnen
00435080 Pat14 PubMed: Smallwood 2023, Journal: Smallwood 2023 2-generation family, 1 affected, unaffected non-carrier parents M - United States - - - - - ? see paper; ..., no cleft lip/palate; craniosynostosis; hypertelorism; micrognathia; no congenital heart disease; developmental delay; infantile spasms/epilepsy; no limb defects; abnormal muscle tone 1 1 Johan den Dunnen
00435081 Pat15 PubMed: Smallwood 2023, Journal: Smallwood 2023 2-generation family, 1 affected, unaffected non-carrier parents M - United States - - - - - ? see paper; ..., no cleft lip/palate; no craniosynostosis; hypertelorism; no micrognathia; congenital heart disease; developmental delay; infantile spasms/epilepsy; limb defects; abnormal muscle tone 1 1 Johan den Dunnen
00435082 Pat16 PubMed: Smallwood 2023, Journal: Smallwood 2023 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - ? see paper; ..., no cleft lip/palate; no craniosynostosis; hypertelorism; no micrognathia; no congenital heart disease; developmental delay; infantile spasms/epilepsy; no limb defects; abnormal muscle tone 1 1 Johan den Dunnen
00435083 Pat17 PubMed: Smallwood 2023, Journal: Smallwood 2023 2-generation family, 2 affected brothers, unaffected non-carrier mother F - United States - - - - - ? see paper; ..., no cleft lip/palate; no craniosynostosis; no hypertelorism; micrognathia; congenital heart disease; developmental delay; no limb defects 1 1 Johan den Dunnen
00435084 Pat18 PubMed: Smallwood 2023, Journal: Smallwood 2023 2-generation family, 2 affected brothers, unaffected non-carrier mother F - United States - - - - - ? see paper; ..., no cleft lip/palate; no craniosynostosis; hypertelorism; micrognathia; congenital heart disease; developmental delay; limb defects; abnormal muscle tone 1 1 Johan den Dunnen
00435085 Pat1A1 PubMed: Weaver 2015 2-generation family, 1 affected, unaffected non-carrier parents M - United States white - - - - ? see paper; ..., ablepharon, absent zygoma, bilateral anotia, cleft palate, underdeveloped maxilla, micrognathia (severe); bowed femora, flared metaphyses (lower extremities), dysplastic acetabulae, delayed ossification of epiphyses; normal development, mild communication delay; short stature 1 1 Johan den Dunnen
00435086 Pat1A2 PubMed: Weaver 2015 2-generation family, 1 affected, unaffected carrier father F - Brazil - - - - - ? see paper; ..., bilateral choanal atresia, upper and lower eyelid clefts, microcephaly; normal limbs; 6y-normal development; patent ductus arteriosus; father down-slanting palpebral fissures, mild malar hypoplasia 1 1 Johan den Dunnen
00435087 Pat1A3 PubMed: Weaver 2015 - M - Germany - - - - - ? see paper; ..., down-slanting palpebral fissures, malar flattening, unilateral microtia, micrognathia (mild); short, broad fingers/toes; 5y-normal development 1 1 Johan den Dunnen
00435088 Pat7III3 PubMed: Shenoy 2022 3-generation family, 1 affected, unaffected non-carrier parents F - India - - - - - ? see paper; ..., birth preterm, weight 1250 g; advanced parental age; down slanted palpebral fissures; lower eyelid coloboma; normal ears; normal hearing; ectropion, dacrostenosis; limbs normal 1 1 Johan den Dunnen
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