All individuals with variants in gene GNPTG

51 entries on 1 page. Showing entries 1 - 51.
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00037461 - - - - - - - - - - - STUT2 - 1 2 Muhammad Raza
00037462 - - - - - - - - - - - STUT2 - 1 2 Muhammad Raza
00037463 - - - - - - - - - - - STUT2 - 1 1 Muhammad Raza
00037464 - - - - - - - - - - - Healthy/Control - 1 1 Muhammad Raza
00037468 - - - - - - - - - - - STUT2 - 1 3 Muhammad Raza
00037469 - - - - - - - - - - - STUT2 - 1 2 Muhammad Raza
00037470 - - - - - - - - - - - STUT2 - 1 1 Muhammad Raza
00037471 - - - - - - - - - - - STUT2 - 1 1 Muhammad Raza
00037472 - - - - - - - - - - - STUT2 - 1 2 Muhammad Raza
00037473 - - - - - - - - - - - Healthy/Control - 1 2 Muhammad Raza
00037474 - - - - - - - - - - - Healthy/Control - 1 1 Muhammad Raza
00037475 - - - - - - - - - - - STUT2 - 1 1 Muhammad Raza
00037476 - - - - - - - - - - - Healthy/Control - 1 1 Muhammad Raza
00037477 - - - - - - - - - - - STUT2 - 1 1 Muhammad Raza
00037478 - - - - - - - - - - - STUT2 - 1 4 Muhammad Raza
00037479 - - - - - - - - - - - STUT2 - 1 1 Muhammad Raza
00037480 - - - - - - - - - - - STUT2 - 1 1 Muhammad Raza
00037481 - - - - - - - - - - - STUT2 - 1 1 Muhammad Raza
00037482 - - - - - - - - - - - STUT2 - 1 1 Muhammad Raza
00037483 - - - - - - - - - - - STUT2 - 1 1 Muhammad Raza
00037484 - - - - - - - - - - - STUT2 - 1 1 Muhammad Raza
00037485 - - - - - - - - - - - STUT2 - 1 5 Muhammad Raza
00037486 - - - - - - - - - - - STUT2 - 1 2 Muhammad Raza
00037487 - - - - - - - - - - - STUT2 - 1 2 Muhammad Raza
00037488 - - - - - - - - - - - Healthy/Control - 1 1 Muhammad Raza
00037744 - - - - - - - - - - - Healthy/Control - 1 1 Muhammad Raza
00037745 - - - - - - - - - - - Healthy/Control - 1 1 Muhammad Raza
00037746 - - - - - - - - - - - Healthy/Control - 1 1 Muhammad Raza
00037747 - - - - - - - - - - - Healthy/Control - 1 2 Muhammad Raza
00165086 37 Journal: Wang 2018 - M - China - 10y - - - ML3C First symptom: abnormal flexion of wrist 2 1 Renata Voltolini Velho
00165087 5 Journal: Oussoren 2018 - M - Netherlands - 30y - - - ML3C Height: 170 cm BMI: 22 kg/m2 Cognitive impairment: yes, mild (special needs education) 1 1 Renata Voltolini Velho
00165088 - - - M - Chile - - - - - ML3C 7 year-old Chilean boy First child of non-consanguineous parents with no family history of genetic diseases. Pregnancy and delivery were uneventful. Inguinal hernioplasty surgery at 6 months Delayed in reaching motor milestones At 6 years of age he presented joint stiffness of the fingers, shoulders and hips and mild intellectual disability. Skeletal radiography showed mild dysostosis multiplex: hypoplastic iliac bones and slanting acetabular roofs. Shortening of the tubular bones of the hands. Lumbar vertebral bodies with shortened anteroposterior diameter and anterosuperior hypoplasia. Skull and ribs were normal Brain MRI was normal Ocular, hearing and cardiac evaluation was normal No visceromegaly was present No coarse facial features 1 1 Renata Voltolini Velho
00165089 - Journal: Gao 2011 Chinese family, three affected siblings, two females at the age of 18 and 16 years, respectively, and a 11-year-old male, all had clinical and biochemical findings compatible with the diagnosis of ML III gamma. The patients' parents were healthy and had no blood-relationship. F no China - 16y - - - ML3C - 2 1 Renata Voltolini Velho
00165090 - Journal: Schrader 2011 performed exome sequencing of three affected individuals (nos 63, 83 and 104) and one obligate carrier (no. 94) to look for novel variants that were consistent with this pattern of inheritance in all individuals. ? - Canada - - - - - ML3C Occurrence in an extended family of autosomal recessive spondyloepiphyseal dysplasia (SED) and retinitis pigmentosa (RP). Individual family members initially presented with spondyloepiphyseal dysplasia leading to multiple surgeries in the third to sixth decade. It was later determined that a retinitis pigmentosa phenotype, presenting in the third and fourth decades with decreased night vision and leading to significant peripheral and central vision loss or blindness by the fifth to seventh decade, co-segregated with the SED phenotype. Additionally, affected individuals had a high incidence of corneal abnormalities. 1 1 Renata Voltolini Velho
00165091 38 Journal: Wang 2018 - M - China - 10y - - - ML3C First symptom: Scoliosis 1 1 Renata Voltolini Velho
00165092 - Journal: Velho 2014 - F no Brazil - 20y - - - ML3C The proband, a female born at term to young (maternal and paternal age at conception was 27 years old) and non-consanguineous parents was referred for clinical genetic evaluation due to large joint contractures. On physical examination, the patient presented contractures and restrictions of movement, especially in the hands, feet and shoulders, and heart systolic murmur, audible mainly at the left sternal border. The two-dimensional color Doppler echocardiography revealed the presence of mild thickening of aortic valve leaflets with mild regurgitation. All other clinical parameters were within normal limits for the patient's age. The exam was performed through the subcostal window, as thoracic deformity prevented the use of standard echocardiographic measures of pulmonary artery systolic pressure. Electroneuromyography of the upper limb was normal, and showed no electrophysiological evidence of peripheral neuropathy. The somatosensory evoked potential of the upper and lower limbs was also normal. The patient was diagnosed as having ML III when she was 8 years old, and is currently stable. 2 1 Renata Voltolini Velho
00165104 Henn Journal: Velho 2016 Two adult patients, who were siblings and presented with clinical and biochemical diagnoses of ML III, were enrolled. M ? Brazil - 47y - - - ML3C Patient A, male, is the third sibling from non-consanguineous parents. First symptoms started at the age of 10 years (claw hands). He developed disabling hip pain because of Legg–Calvé–Perthes disease, and prostheses were inserted bilaterally at 34 and 36 years of age. An umbilical hernia was repaired at the age of 37 years, and severe carpal tunnel syndrome was corrected by wrist surgery at the age of 40 years. At the last visit, he was 42 years old and currently working on the family farm, having no complaints or difficulties in his daily tasks. He did not finish high school but does not appear to have cognitive impairment. A physical exam showed mild coarse facial features, systolic murmur, no organomegaly, claw hands and severe joint contractures of the shoulders, elbows and knees. In addition to these symptoms, he had some difficulty in moving the right leg because of an external rotation of the knee. On echocardiography he had supravalvular aortic stenosis, minimal physiological mitral regurgitation, mild tricuspid regurgitation and systolic pulmonary artery pressure at 29mm Hg, without other alterations. The neurological exam was normal. A polysomnography was performed and showed mild apnea hypopnea index (11.5). Patient B, male, second sibling from non-consanguineous parents, was diagnosed at the age of 38 years, after the ML III diagnosis of his brother (patient A). Claw hands and shoulder contractures were noted since adolescence. He developed disabling hip pain because of Legg–Calvé–Perthes disease, and prostheses were inserted bilaterally at 38 and 40 years of age, respectively. At his last visit, he was 44 years old and currently working on the family farm, without complaints or difficulties in his tasks. Similar to his brother, he did not finish high school but does not appear to have cognitive impairment. A physical exam showed coarse facial features (even milder than patient A) and mild joint restrictions in the hands, elbow, shoulder and knees. The neurological exam was normal. The echocardiogram and polysomnography were normal. 1 1 Renata Voltolini Velho
00165131 15060128-Pat8I PubMed: Raas-Rothschil 2004, Journal: Raas-Rothschil 2004 - ? no Netherlands - - - - - ML see paper; ..., no family history, 2 1 Renata Voltolini Velho
00165185 15060128-Pat1 PubMed: Raas-Rothschil 2004, Journal: Raas-Rothschil 2004 2-generation family, 1 affected, unaffected heterozygous carrier parents ? yes Israel Druze - - - - ML see paper; ..., family history, 1 1 Johan den Dunnen
00165186 15060128-Pat2I/II PubMed: Raas-Rothschil 2004, Journal: Raas-Rothschil 2004 2-generation family, 2 affecteds, unaffected heterozygous carrier parents/relatives M yes Tunisia Jewish - - - - ML see paper; ..., no family history, 1 2 Johan den Dunnen
00165187 15060128-Pat3 PubMed: Raas-Rothschil 2004, Journal: Raas-Rothschil 2004 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Tunisia Jewish - - - - ML see paper; ..., family history, 1 1 Johan den Dunnen
00165188 15060128-Pat4I/II PubMed: Raas-Rothschil 2004, Journal: Raas-Rothschil 2004 2-generation family, 2 affecteds, unaffected heterozygous carrier parents/relatives M yes Tunisia Jewish - - - - ML see paper; ..., family history, 1 2 Johan den Dunnen
00165189 15060128-Pat5I/II/III/IV PubMed: Raas-Rothschil 2004, Journal: Raas-Rothschil 2004 2-generation family, 4 affecteds, unaffected heterozygous carrier parents/relatives M yes Turkey - - - - - ML see paper; ..., family history, 1 4 Johan den Dunnen
00165190 15060128-Pat6I/II PubMed: Raas-Rothschil 2004, Journal: Raas-Rothschil 2004 2-generation family, 2 affecteds, unaffected heterozygous carrier parents/relatives F yes Iran Jewish - - - - ML see paper; ..., family history, 1 2 Johan den Dunnen
00165191 15060128-Pat7I PubMed: Raas-Rothschil 2004, Journal: Raas-Rothschil 2004 2-generation family, 1 affected, unaffected heterozygous carrier parents ? no Finland - - - - - ML see paper; ..., family history, 1 1 Johan den Dunnen
00245068 patient 2 PubMed: Tiede 2004, Journal: Tiede 2004 sister of patient 1 F no Germany - - - - - ML weight/height 10th percentile, relatively long legs, shortened trunk, lumbar spine lordosis; radiologically marked dysostosis multiplex with platyspondyly vertebral bodies, deformity hand bones; no liver or spleen enlargement, normal intelligence 1 1 Johan den Dunnen
00245069 patient 1 PubMed: Tiede 2004, Journal: Tiede 2004 2-generation family, 2 affected siblings, unaffected heterozygous carrier parents/relatives M - Germany - - - - - ML weight/height 10th percentile, relatively long legs, shortened trunk, lumbar spine lordosis; radiologically marked dysostosis multiplex with platyspondyly vertebral bodies, deformity hand bones; no liver or spleen enlargement, normal intelligence; hyperopia, astigmatism 1 2 Johan den Dunnen
00358963 Case71762 PubMed: Tiwari 2016 see paper F - Switzerland - - - - - retinal disease see paper; ... 1 1 LOVD
00374338 S-5444 PubMed: Ganapathy 2019 - - - India - - - - - ? Gait imbalance. Brain MRI showed Arnold-Chiari malformation with skeletal features of mucopolysaccharidoses 1 1 Johan den Dunnen
00426126 10SN9800 PubMed: Al-Kasbi 2022 patient, other affecteds in family M - Oman - - - - - ID - 1 1 Johan den Dunnen
00456269 Pat47 PubMed: Fernandez-Marmiesse 2014 - M - Spain - - - - - ? see paper; ... 1 1 Johan den Dunnen
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