All individuals with variants in gene GLTSCR1

15 entries on 1 page. Showing entries 1 - 15.
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00104013 Vogelaar-513A PubMed: Vogelaar 2017, Journal: Vogelaar 2017 54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer - - - - - - - - cancer, gastric diffuse-type or intestinal-type gastric cancer 1 1 Marjolijn JL Ligtenberg
00324091 S1 PubMed: Barish 2020, Journal: Barish 2020 2-generation family, 1 affected, unaffected non-carrier parents F - Germany - - - - - NDD developmental delay/intellectual disability; no autism spectrum disorder; no developmental regression; no motor stereotypies; no behavioral problems; no sleep disturbance; hypotonia; no oral motor hypotonia; feeding difficulties; no epilepsy/seizures; no chiari malformation; no obstructive hydrocephalus; no macrocerebellum; no facial nerve paresis; no hippocampal atrophy; no ambliopia/strabismus; no myopia; no hyperopia; no sensorineural hearing loss; no submucous cleft palate; no tatralogy of Fallot; no patent foramen ovale; no cardiac murmur; no elevated liver enzymes; no celiac disease; GERD; no chronic constipation; no horseshoe kidney; no radioulnar synostosis; no scoliosis; no joint laxicity; no hip subluxation; no recurrent infections; no hypothyroidsim; no von Willebrand disease; no short stature; poor weight gain; no failure to thrive 1 1 Johan den Dunnen
00324092 S2 PubMed: Barish 2020, Journal: Barish 2020 2-generation family, 1 affected, unaffected parents F - - - - - - - NDD developmental delay/intellectual disability; no autism spectrum disorder; no developmental regression; no motor stereotypies; no behavioral problems; no sleep disturbance; no hypotonia; no oral motor hypotonia; no feeding difficulties; epilepsy/seizures; no chiari malformation; no obstructive hydrocephalus; no macrocerebellum; no facial nerve paresis; hippocampal atrophy; ambliopia/strabismus; no myopia; no hyperopia; no sensorineural hearing loss; no submucous cleft palate; no tatralogy of Fallot; no patent foramen ovale; cardiac murmur; no elevated liver enzymes; no celiac disease; no GERD; no chronic constipation; horseshoe kidney; no cryptorchidism; no hypospadias; no radioulnar synostosis; no scoliosis; no joint laxicity; no hip subluxation; no recurrent infections; no hypothyroidsim; no von Willebrand disease; short stature; no poor weight gain; no failure to thrive 1 1 Johan den Dunnen
00324093 S3 PubMed: Barish 2020, Journal: Barish 2020 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD developmental delay/intellectual disability; autism spectrum disorder; no developmental regression; no motor stereotypies; behavioral problems; no sleep disturbance; no hypotonia; no oral motor hypotonia; feeding difficulties; no epilepsy/seizures; no chiari malformation; no obstructive hydrocephalus; no macrocerebellum; no facial nerve paresis; no hippocampal atrophy; ambliopia/strabismus; myopia; no hyperopia; no sensorineural hearing loss; no submucous cleft palate; no tatralogy of Fallot; patent foramen ovale; no cardiac murmur; no elevated liver enzymes; no celiac disease; no GERD; no chronic constipation; no horseshoe kidney; cryptorchidism; hypospadias; radioulnar synostosis; no scoliosis; no joint laxicity; no hip subluxation; no recurrent infections; no hypothyroidsim; no von Willebrand disease; no short stature; no poor weight gain; no failure to thrive 1 1 Johan den Dunnen
00324094 S4 PubMed: Barish 2020, Journal: Barish 2020 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD developmental delay/intellectual disability; no autism spectrum disorder; no developmental regression; no motor stereotypies; no behavioral problems; no sleep disturbance; hypotonia; no oral motor hypotonia; feeding difficulties; no epilepsy/seizures; no chiari malformation; no obstructive hydrocephalus; no macrocerebellum; no facial nerve paresis; no hippocampal atrophy; no sensorineural hearing loss; no submucous cleft palate; no tatralogy of Fallot; no patent foramen ovale; no cardiac murmur; no elevated liver enzymes; no celiac disease; no GERD; no chronic constipation; no horseshoe kidney; no cryptorchidism; no hypospadias; no joint laxicity; no hip subluxation; no recurrent infections; no hypothyroidsim; no von Willebrand disease; no short stature; poor weight gain; no failure to thrive 1 1 Johan den Dunnen
00324095 S5;PatN4 PubMed: Barish 2020, Journal: Barish 2020, PubMed: Chen 2022 2-generation family, 1 affected, unaffected non-carrier parents M - Mexico Hispanic - - - - NDD developmental delay/intellectual disability; no autism spectrum disorder; no developmental regression; no motor stereotypies; no behavioral problems; no sleep disturbance; hypotonia; no oral motor hypotonia; feeding difficulties; no epilepsy/seizures; no chiari malformation; no obstructive hydrocephalus; no macrocerebellum; no facial nerve paresis; no hippocampal atrophy; no ambliopia/strabismus; no myopia; no hyperopia; no sensorineural hearing loss; no submucous cleft palate; no tatralogy of Fallot; no patent foramen ovale; no cardiac murmur; no elevated liver enzymes; no celiac disease; no GERD; chronic constipation; no horseshoe kidney; no cryptorchidism; no hypospadias; no radioulnar synostosis; no scoliosis; joint laxicity; no hip subluxation; no recurrent infections; no hypothyroidsim; no von Willebrand disease; short stature; poor weight gain; failure to thrive 1 1 Johan den Dunnen
00324096 S6 PubMed: Barish 2020, Journal: Barish 2020 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD developmental delay/intellectual disability; autism spectrum disorder; no developmental regression; no motor stereotypies; behavioral problems; sleep disturbance; no hypotonia; no oral motor hypotonia; no feeding difficulties; no epilepsy/seizures; no chiari malformation; no obstructive hydrocephalus; no macrocerebellum; no facial nerve paresis; no hippocampal atrophy; ambliopia/strabismus; no myopia; no hyperopia; no sensorineural hearing loss; no submucous cleft palate; no tatralogy of Fallot; no patent foramen ovale; no cardiac murmur; no elevated liver enzymes; possible celiac disease; no GERD; no chronic constipation; no horseshoe kidney; no cryptorchidism; no hypospadias; no radioulnar synostosis; no scoliosis; no joint laxicity; no hip subluxation; no recurrent infections; no hypothyroidsim; no von Willebrand disease; no short stature; no poor weight gain; no failure to thrive 1 1 Johan den Dunnen
00324097 S7 PubMed: Barish 2020, Journal: Barish 2020 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD developmental delay/intellectual disability; no autism spectrum disorder; no developmental regression; no motor stereotypies; behavioral problems; sleep disturbance; hypotonia; no oral motor hypotonia; no feeding difficulties; no epilepsy/seizures; no chiari malformation; no obstructive hydrocephalus; no macrocerebellum; no facial nerve paresis; no hippocampal atrophy; ambliopia/strabismus; no myopia; no hyperopia; sensorineural hearing loss; submucous cleft palate; no tatralogy of Fallot; no patent foramen ovale; cardiac murmur; no elevated liver enzymes; no celiac disease; no GERD; chronic constipation; no horseshoe kidney; no cryptorchidism; no hypospadias; no radioulnar synostosis; scoliosis; joint laxicity; no hip subluxation; no recurrent infections; no hypothyroidsim; von Willebrand disease; no short stature; no poor weight gain; no failure to thrive 1 1 Johan den Dunnen
00324098 S8 PubMed: Barish 2020, Journal: Barish 2020 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD developmental delay/intellectual disability; mild autism spectrum disorder; no developmental regression; motor stereotypies; no behavioral problems; no sleep disturbance; no hypotonia; no oral motor hypotonia; feeding difficulties; no epilepsy/seizures; no chiari malformation; no obstructive hydrocephalus; no macrocerebellum; no facial nerve paresis; no hippocampal atrophy; no ambliopia/strabismus; no myopia; hyperopia; no sensorineural hearing loss; no submucous cleft palate; no tatralogy of Fallot; no patent foramen ovale; no cardiac murmur; no elevated liver enzymes; no celiac disease; GERD; chronic constipation; no horseshoe kidney; no cryptorchidism; no hypospadias; no radioulnar synostosis; no scoliosis; no joint laxicity; hip subluxation; no recurrent infections; no hypothyroidsim; no von Willebrand disease; no short stature; poor weight gain; failure to thrive 1 1 Johan den Dunnen
00324099 S9 PubMed: Barish 2020, Journal: Barish 2020 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD developmental delay/intellectual disability; autism spectrum disorder; no developmental regression; motor stereotypies; no sleep disturbance; no hypotonia; no oral motor hypotonia; feeding difficulties; epilepsy/seizures; no chiari malformation; no obstructive hydrocephalus; no macrocerebellum; no facial nerve paresis; no hippocampal atrophy; no ambliopia/strabismus; no myopia; hyperopia; no sensorineural hearing loss; no submucous cleft palate; no tatralogy of Fallot; no patent foramen ovale; no cardiac murmur; no elevated liver enzymes; no celiac disease; no GERD; chronic constipation; no horseshoe kidney; no radioulnar synostosis; scoliosis; joint laxicity; no hip subluxation; no recurrent infections; no hypothyroidsim; no von Willebrand disease; no short stature; no poor weight gain; no failure to thrive 1 1 Johan den Dunnen
00324100 S10 PubMed: Barish 2020, Journal: Barish 2020 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD developmental delay/intellectual disability; no autism spectrum disorder; no developmental regression; no motor stereotypies; behavioral problems; no sleep disturbance; no hypotonia; no oral motor hypotonia; no feeding difficulties; no epilepsy/seizures; no chiari malformation; no obstructive hydrocephalus; no macrocerebellum; no facial nerve paresis; no hippocampal atrophy; ambliopia/strabismus; no myopia; hyperopia; no sensorineural hearing loss; no submucous cleft palate; tatralogy of Fallot; no patent foramen ovale; no cardiac murmur; no elevated liver enzymes; no celiac disease; no GERD; no chronic constipation; horseshoe kidney; no radioulnar synostosis; no scoliosis; no joint laxicity; no hip subluxation; recurrent infections; no hypothyroidsim; no von Willebrand disease; no short stature; no poor weight gain; no failure to thrive 1 1 Johan den Dunnen
00324101 S11 PubMed: Barish 2020, Journal: Barish 2020 2-generation family, 1 affected, unaffected non-carrier parents M - Congo - - - - - NDD developmental delay/intellectual disability; autism spectrum disorder; developmental regression; no motor stereotypies; behavioral problems; no sleep disturbance; no hypotonia; no oral motor hypotonia; no feeding difficulties; no epilepsy/seizures; no chiari malformation; no obstructive hydrocephalus; no macrocerebellum; no facial nerve paresis; no hippocampal atrophy; no ambliopia/strabismus; no myopia; no hyperopia; no sensorineural hearing loss; no submucous cleft palate; no tatralogy of Fallot; no patent foramen ovale; no cardiac murmur; no elevated liver enzymes; no celiac disease; no GERD; no chronic constipation; no horseshoe kidney; no cryptorchidism; no hypospadias; no radioulnar synostosis; no scoliosis; no joint laxicity; no hip subluxation; no recurrent infections; no hypothyroidsim; no von Willebrand disease; no short stature; no poor weight gain; no failure to thrive 1 1 Johan den Dunnen
00324102 S12 PubMed: Barish 2020, Journal: Barish 2020 2-generation family, 1 affected, unaffected non-carrier parents F - Netherlands - - - - - NDD developmental delay/intellectual disability; no autism spectrum disorder; no developmental regression; no motor stereotypies; no behavioral problems; no sleep disturbance; no hypotonia; oral motor hypotonia; feeding difficulties; no epilepsy/seizures; chiari malformation; obstructive hydrocephalus; macrocerebellum; facial nerve paresis; no hippocampal atrophy; no ambliopia/strabismus; no myopia; no hyperopia; no sensorineural hearing loss; no submucous cleft palate; no tatralogy of Fallot; no patent foramen ovale; no cardiac murmur; elevated liver enzymes possibly due to cystic fibrosis with exocrine pancreatic insufficiency; no celiac disease; no GERD; no chronic constipation; no horseshoe kidney; no radioulnar synostosis; no scoliosis; no joint laxicity; no hip subluxation; recurrent infections; hypothyroidsim; no von Willebrand disease; short stature; poor weight gain; failure to thrive 1 1 Johan den Dunnen
00325871 - - - F - - - - - - - ? Microcephaly (HP:0000252); Muscular hypotonia (HP:0001252); Global developmental delay (HP:0001263); 2-3 toe syndactyly (HP:0004691) 1 1 IMGAG
00415242 Fam2Pat2 PubMed: Ziegler 2022, Journal: Ziegler 2022 2 generation family, affected sister/brother, unaffected heterozygous carrier parents F - Bosnia and Herzegovina;Croatia (Hrvatska) Bosnia 15y - - - NDD 15y-died; birth 40w, weight 3,000 g (-1.12 SD), length 51 cm (-0.32 SD), ; no neonatal problems; 7y9m-height 114.8 cm (-1.8 SD), weight 16.8 kg (-2.56 SD), OFC 46.5 cm (-4.86 SD); 13m-sit; 3y6m-walk ; no speech; shy, stubborn, hyperactive; 5y/8y-2 occurences of tonic-clonic fever-associated seizures; hypotonia; MRI brain 4y-hypomyelination, cortical atrophy; incomplete atrioventricular canal, atrial septal defect type 2, ventricular septal defect, global progressive cardiac insufficiency with severe mitral-valve and aortic-valve insufficiency and severe cardiomegaly, which led to exitus letalis, mitral- and aortic-valve replacement and reconstruction was performed, 8y-ECG atrioventricular block; strabismus convergens alternans; recurrent infections 1 2 Johan den Dunnen
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