All individuals with variants in gene MBOAT7

18 entries on 1 page. Showing entries 1 - 18.
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00274323 G6233 - - M yes Iran - 18y - - - MRT intellectual disability, developmental delay,muscular hypotonia 1 2 Erfan Heidari
00274324 - - - M yes - - - - - - MRT - 1 1 Erfan Heidari
00274338 Fam1PatIII2 PubMed: Johansen 2016 3-generation family, 3 affected (3M), unaffected heterozygous carrier parents/relatives M yes Egypt - - - - - ? head control-7m, sit-2y, walk-4y6m; no speech; onset seizures-7m, myoclonic seizures; child autism rating scale 28; head circumference -1SD; hypotonia infancy; hypertonia; intellectual disability; MRI brain normal 1 3 Johan den Dunnen
00274339 Fam1PatIII3 PubMed: Johansen 2016 - M yes Egypt - - - - - ? head control-8m, sit-2y6m, walk-4y; no speech; onset seizures-6m, focal seizures; child autism rating scale 30; head circumference -1SD; hypotonia infancy; hypertonia; intellectual disability; 1 1 Johan den Dunnen
00274340 Fam1PatIII4 PubMed: Johansen 2016 - M yes Egypt - - - - - ? head control-6m, sit-2y, walk-3y; no speech; onset seizures-7m, myoclonic seizures; child autism rating scale 30; head circumference -1SD; hypotonia infancy; hypertonia; intellectual disability; MRI brain normal 1 1 Johan den Dunnen
00274341 Fam2PatIII2 PubMed: Johansen 2016 3-generation family, 2 affected (F, M), unaffected heterozygous carrier parents/relatives M yes Pakistan - - - - - ? head control-2y6m, sit-3y6m; no speech; onset seizures-2y6m, generalized tonic-clonic seizures; child autism rating scale 44; head circumference -3SD; hypotonia infancy; hypertonia; intellectual disability; MRI brain polymicrogyria, cortical atrophy 1 2 Johan den Dunnen
00274342 Fam2PatIII3 PubMed: Johansen 2016 - F yes Pakistan - - - - - ? head control-2y, sit-3y; no speech; no seizures; child autism rating scale 42; head circumference -2SD; hypotonia infancy; hypertonia; intellectual disability; 1 1 Johan den Dunnen
00274343 Fam3PatIII3 PubMed: Johansen 2016 3-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives M yes Pakistan - - - - - ? head control-8m, sit-1y6m, walk-3y6m; first words-7y, two word sentence-7y ; onset seizures-18m, myoclonic seizures; child autism rating scale 41; head circumference -1.1SD; hypotonia infancy; hypertonia; intellectual disability; MRI brain polymicrogyria, cortical atrophy 1 3 Johan den Dunnen
00274344 Fam3PatIII4 PubMed: Johansen 2016 - F yes Pakistan - - - - - ? head control-8m, sit-1y6m, walk-2y; first words-4y, two word sentence-5y ; onset seizures-4m, focal seizures; child autism rating scale 42; head circumference -2.5SD; hypotonia infancy; hypertonia; intellectual disability; MRI brain normal 1 1 Johan den Dunnen
00274345 Fam3PatIII5 PubMed: Johansen 2016 - M yes Pakistan - - - - - ? head control-1y, sit-1y6m; no speech; onset seizures-6m, myoclonic seizures; child autism rating scale 42; head circumference -2.8SD; hypotonia infancy; hypertonia; intellectual disability 1 1 Johan den Dunnen
00275630 FamMR77Pat4 PubMed: Santos-Cortez 2018 5-generation family, 4 affected (2F, 2M), unaffected heterozygous carrier parents/relatives M yes Pakistan - - - - - ID OFC 55cm; IQ 30, severe intellectual disability (HP:0010864); speech disability 1 4 Johan den Dunnen
00275631 FamMR77Pat5 PubMed: Santos-Cortez 2018 - M yes Pakistan - - - - - ID OFC 53.8cm; IQ 30, severe intellectual disability (HP:0010864) 1 1 Johan den Dunnen
00275632 FamMR77Pat6 PubMed: Santos-Cortez 2018 - F yes Pakistan - - - - - ID OFC 52.5cm; IQ 25, severe intellectual disability (HP:0010864) 1 1 Johan den Dunnen
00275633 FamMR77Pat7 PubMed: Santos-Cortez 2018 - F yes Pakistan - - - - - ID OFC 51.2cm; IQ 25, severe intellectual disability (HP:0010864) 1 1 Johan den Dunnen
00292196 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 23 Mohammed Faruq
00387885 M9000101 PubMed: Hu 2019 family, 3 affected individuals, first cousin parents once removed - yes - Azeri - - - - ID syndromic intellectual disability, no microcephaly, epilepsy, leukoencephalopathy 1 3 Johan den Dunnen
00426134 61BS3700 PubMed: Al-Kasbi 2022 patient, other affecteds in family M - Oman - - - - - ID - 1 1 Johan den Dunnen
00460893 - - - - - Netherlands - - - - - ? - 1 1 Tjakko van Ham
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