All individuals with variants in gene ATP6V1E1

5 entries on 1 page. Showing entries 1 - 5.
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00307277 Fam1PatII1 PubMed: Van Damme 2017 2-generation family, 2 affected (F, fetus), unaffected heterozygous carrier parents F yes Iran - - - - - cutis laxa generalized cutis laxa; no large skin folds; “mask-like” triangular face, short forehead, hypertelorism, entropion, low-set ears with misfolded helices, beaked nose, broad nasal base, narrow nostrils, short and pointed chin; entropion; hip dysplasia; contractures; no kyphoscoliosis; no marfanoid habitus; hypotonia; cardiac abnormalities; aortic dilation; no urogenital abnormalities; ICAM-1 reduction; Golgi-trafficking defects; giant autolysosomes; extracellular matrix defects 1 2 Johan den Dunnen
00307278 Fam1PatII2 PubMed: Van Damme 2017 fetus - yes Iran - - - - - cutis laxa no generalized cutis laxa; no large skin folds; no improving cutis laxa with age; “mask-like” triangular face, short forehead, hypertelorism, entropion, low-set ears with misfolded helices, beaked nose, broad nasal base, narrow nostrils, short and pointed chin; no contractures; no kyphoscoliosis; no marfanoid habitus; cardiac abnormalities; no aortic dilation; no pneumothorax; no urogenital abnormalities 1 1 Johan den Dunnen
00307279 Fam2PatII1 PubMed: Van Damme 2017 2-generation family, affected sister/brother unaffected heterozygous carrier parents F yes Kuwait - - - - - cutis laxa generalized cutis laxa; no large skin folds; “mask-like” triangular face, short forehead, hypertelorism, entropion, low-set ears with misfolded helices, beaked nose, broad nasal base, narrow nostrils, short and pointed chin; entropion; hip dysplasia; no contractures; kyphoscoliosis; marfanoid habitus; hypotonia; cardiac abnormalities; no aortic dilation; pneumothorax; no MRI abnormalities; no urogenital abnormalities; transferrin isoelectric focusing type II abnormalities; mass spec abnormalities 1 2 Johan den Dunnen
00307280 Fam2PatII2 PubMed: Van Damme 2017 brother M yes Kuwait - - - - - cutis laxa generalized cutis laxa; no large skin folds; “mask-like” triangular face, short forehead, hypertelorism, entropion, low-set ears with misfolded helices, beaked nose, broad nasal base, narrow nostrils, short and pointed chin; entropion; no hip dysplasia; no contractures; kyphoscoliosis; marfanoid habitus; hypotonia; no cardiac abnormalities; no aortic dilation; pneumothorax; inguinal herniation, cryptorchidy; transferrin isoelectric focusing type II abnormalities; mass spec abnormalities 1 1 Johan den Dunnen
00465818 Fam5 PubMed: Alazami 2016 family, 2 affected - - Saudi Arabia - - - - - ? see paper; ..., Cutis laxa, dysmorphic features (short forehead, shallow furrowing at forehead midline, blepharophimosis, strabismus, entropion, infraorbital puffiness, maxillary hypoplasia, crowding of the teeth, prominent jaw, saggy cheeks, an abnormal bulge of the upper third of the nasal spine, saddle nose, anteverted nares (almost tented tip of the nose), long philtrum, midline cleft palate, microstomia), nephrocalcinosis, congenital heart defects 1 2 Johan den Dunnen
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