All individuals with variants in gene EMILIN1

6 entries on 1 page. Showing entries 1 - 6.
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00303287 Fam1PatIV1 Beyens ESHG2020 C29.3,PubMed: Adamo 2022 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives M yes - Middle-East - - - - ? see paper; ..., short palpebral fissures; downslanted palpebral fissures; epicanthus; blue sclerae; convex nasal ridge; wide nasal ridge; thin upper lip; flat philtrum; highly arched palate; dolichocephaly; aortic tortuosity; tortuosity of other arteries; aortic root dilatation; no coarctation of the aorta; no arterial stenosis; no abnormal implantation of aortic branches; no arterial dissection; joint hyperlaxity; no fractures; no muscle hypotonia; cutis laxa; thin, velvety skin; no petechiae at birth; cephalohematoma; no respiratory distress; hydronephrosis; no seizures 1 2 Johan den Dunnen
00303289 Fam3PatIII1 Beyens ESHG2020 C29.3, PubMed: Adamo 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents M no - white;Europe - - - - ? see paper; ..., short palpebral fissures; no downslanted palpebral fissures; no epicanthus; blue sclerae; convex nasal ridge; wide nasal ridge; thin upper lip; flat philtrum; highly arched palate; no dolichocephaly; aortic tortuosity; tortuosity of other arteries; aortic root dilatation; no coarctation of the aorta; no arterial stenosis; abnormal implantation of aortic branches; no arterial dissection; no joint hyperlaxity; fractures; birth 2 fractures; muscle hypotonia; cutis laxa; thin, velvety skin; petechiae at birth; cephalohematoma; respiratory distress; no hydronephrosis; seizures 2 1 Johan den Dunnen
00426060 Fam2PatIV2 Beyens ESHG2020 C29.3, PubMed: Adamo 2022 2-generation family, 2 affected brotherss, unaffected heterozygous carrier parents/relatives M yes - Middle-East - - - - ? see paper; ..., no short palpebral fissures; no downslanted palpebral fissures; no epicanthus; no blue sclerae; no convex nasal ridge; no wide nasal ridge; no thin upper lip; no flat philtrum; no highly arched palate; no dolichocephaly; aortic tortuosity; tortuosity of other arteries; no aortic root dilatation; coarctation of the aorta; arterial stenosis; abnormal implantation of aortic branches; no arterial dissection; no joint hyperlaxity; fractures; 21d-7 fractures; no muscle hypotonia; no cutis laxa; no thin, velvety skin; no petechiae at birth; no cephalohematoma; respiratory distress; hydronephrosis; no seizures 1 2 Johan den Dunnen
00426061 Fam2PatIV3 Beyens ESHG2020 C29.3, PubMed: Adamo 2022 brother M - - - - - - - ? see paper; ..., no short palpebral fissures; no downslanted palpebral fissures; thin upper lip; no flat philtrum; dolichocephaly; aortic tortuosity; tortuosity of other arteries; aortic root dilatation; coarctation of the aorta; arterial stenosis; no abnormal implantation of aortic branches; no arterial dissection; joint hyperlaxity; fractures; birth 1 fracture; muscle hypotonia; no cutis laxa; petechiae at birth; cephalohematoma; respiratory distress; hydronephrosis; no seizures 1 1 Johan den Dunnen
00426062 Fam1PatIV2 Beyens ESHG2020 C29.3, PubMed: Adamo 2022 brother M yes - Middle-East - - - - ? see paper; ..., short palpebral fissures; downslanted palpebral fissures; epicanthus; blue sclerae; convex nasal ridge; wide nasal ridge; thin upper lip; flat philtrum; highly arched palate; dolichocephaly; aortic tortuosity; no aortic root dilatation; no coarctation of the aorta; no arterial stenosis; no abnormal implantation of aortic branches; no arterial dissection; joint hyperlaxity; fractures; neonatal/4y-4 fractures; no muscle hypotonia; cutis laxa; thin, velvety skin; no petechiae at birth; no cephalohematoma; no respiratory distress; no hydronephrosis; seizures 1 1 Johan den Dunnen
00426063 Fam4PatII3 PubMed: Adamo 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M - - Hispanic;American - - - - ? see paper; ..., no short palpebral fissures; no downslanted palpebral fissures; no epicanthus; no blue sclerae; no convex nasal ridge; no wide nasal ridge; no thin upper lip; no flat philtrum; no highly arched palate; no dolichocephaly; aortic tortuosity; tortuosity of other arteries; aortic root dilatation; no coarctation of the aorta; no arterial stenosis; no abnormal implantation of aortic branches; no arterial dissection; no joint hyperlaxity; fractures; 8m-1 fracture; no muscle hypotonia; no cutis laxa; no thin, velvety skin; no petechiae at birth; no cephalohematoma; no respiratory distress; hydronephrosis (resolved); no seizures 1 1 Johan den Dunnen
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