All individuals with variants in gene MSTO1

10 entries on 1 page. Showing entries 1 - 10.
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00087232 FamAPatII1 PubMed: Nasca 2017 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F no Italy - - - - - MEOAL;MMDS8 see paper; ..., congenital myopathy, ataxia, skeletal abnormalities, Cesarean section due tonon-reassuring fetal status, slight neonatal asphyxia (Apgar score 5/7), intact in first months after birth; severe growth delay, severe motor delay; severe growth impairment (<3rd percentile); no intellectual disability; no seizure; muscle weakness; tremor; dysmetry; adiadochokinesia; walking disturbance; pgmentary retinopathy, papillary pallor; triangular face, sunken eyes, chest asymmetry; raised CK (1200U/L); muscle biopsy myopathic; MRI global cerebellar hypotrophy, enlarged cisterna magna, hyperintense signals in the supra-tentorial periventricular and posterior white matter 2 2 Daniele Ghezzi
00288206 Pat16 PubMed: Lee 2019 - - - United States - - - - - ? developmental delay, cerebellar hypoplasia, cerebellar atrophy, myopathy, hypotonia, motor delay, ataxia, tremor 2 1 Johan den Dunnen
00373742 iw019 - - M no China Chinese - - - - ? HP:0004322; HP:0004325; HP:0001252; HP:0001249; HP:0001263; HP:0000750; HP:0001270 2 1 Wenjuan Qiu
00375185 FamBPatII2 PubMed: Nasca 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - MEOAL;MMDS8 see paper; ..., reluctance to stand and walk unsupported, speech acquisition delay; no intellectual disability; no seizure; muscle weakness; tremor; dysmetry; adiadochokinesia; walking disturbance; ophthalomology normal; tightness Achilles tendons; raised CK (5420 IU/L; 3y6m-MRI hypoplasia cerebellar vermis and hemispheres 2 1 Johan den Dunnen
00375186 FamPatII1 PubMed: Gal 2017 2-generation family, affected mother, daughter and 2 sons F no Hungary - - - - - MEOAL;MMDS8 see paper; ..., mitochondrial myopathy, ataxia, muscle weakness; short stature (150 cm); no seizure; adiadochokinesia; ophthalmology normal; normal CK; muscle biopsy myopathic; frontal atrophy, enlarged interhemispheric fissure 1 4 Johan den Dunnen
00375187 Pat1 PubMed: Iwama 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Japan - - - - - ? birth 40w, emergency cesarean section due to non-reassuring fetal status, non asphyxia, OFC 31.5 cm (−1.4 SD), weght 3055 g (+0.2 SD), height 45.7 cm (−2.0 SD); motor delay; slight intellectual disability; perverted ocular movement; no seizure; muscle weakness; tremor; dysmetry; adiadochokinesia; walking disturbance; pigmentary retinopathy, esotropia, hypermetropia; recurrent digestive symptom; scoliosis; plasma CK 430 U/K; MRI atrophy cerebellar vermis and hemispheres 2 1 Johan den Dunnen
00375188 Pat2 PubMed: Iwama 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Japan - - - - - ? birth 41w5d, Cesarean section due to abrupt placentae and non-reassuring fetal status, slight neonatal asphyxia (Apgar score 6/8), OFC 30.5 cm (−2.7 SD), weght 2860 g (−1.1 SD), height 50 cm (−0.1 SD); hypotonus, multiple arthrogryposis; severe growth impairment height <−2 SD, weight <−2 SD; intellectual disability; no perverted ocular movement; no seizure; muscle weakness; tremor; no dysmetry; walking disturbance; suspected pigmentary retinopathy (not clear), arthrogryposis; 7d-plasma CK 916 U/K, 2y2m-normal CK; MRI atrophy cerebellar vermis and hemispheres, pons, and tegmental area 2 1 Johan den Dunnen
00375189 FamPatII1 PubMed: Li 2020 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M no China - - - - - MYOP born after normal pregnancy, weight of 4400g, neonatal distress, psychomotor development normal; 1y-unable to stand and walk unsupported; psycho-motor delay, slurred speech; muscle weakness; severe growth retardation, short stature (156 cm, -3SD), OFC 57 cm, weight 51 kg (normal range); pes planus, visual impairment; muscular atrophy not obvious; moderate truncal and lower limb ataxia; autistic features, anxiety; computed tomography brain cerebellar atrophy 2 2 Johan den Dunnen
00375190 FamPatII2 PubMed: Li 2020 brother M no China - - - - - MYOP born by cesarean section after uneventful pregnancy, weight 3900g; 10m-severe growth and motor delay; similar course to brother incl. muscle weakness, cerebellar atrophy, ataxia; pes planus, mild genu valgus; psychomotor and mental retardation, hypertonia, failure to thrive; slightly short stature (138.4 cm, -2SD), myopia, myopathic face, poor fine coordination; OFC 55.5 cm, weight 32 kg (normal range); sSerum CK significantly elevated (2544 U/L); elevated anti-thyroid peroxidase antibody (anti-TPO) and antithyroglobulin (anti-TG); EMG myopathic pattern; MRI brain atrophy cerebellum and brain stem, predominating at cerebellum 2 1 Johan den Dunnen
00460225 G094-1 PubMed: Mao 2025 patient, no family history F - China - - - - - MDC see paper; ..., motor retardation; mild hypertonia; EEG normal; MR cerebellar hypoplasia, mild development delay 2 1 Johan den Dunnen
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