All individuals with variants in gene SLC39A8

11 entries on 1 page. Showing entries 1 - 11.
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00293501 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 9 Mohammed Faruq
00361719 FamAPat1 PubMed: Boycott 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United States Hutterite-D - - - - ID birth length 50th–75th; birth weight 50th; OFC 90th; length -3 to -4 SD; weight -4 SD; OFC 50th; 2y-head control; 7y-sit; not walking; profound intellectual disability; profound hypotonia; strabismus; no seizures; recurrent infections, joint hypermobility; osteopenia; MRI severe atrophy of the cerebellar vermis and hemispheres 1 1 Johan den Dunnen
00361720 FamBPat2 PubMed: Boycott 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United States Hutterite-D - - - - ID birth length 5th–10th; birth weight 50th; OFC 50th; length -3 to -4 SD; weight -4 SD; OFC 50th; 4y-head control; sit with support; not walking; profound intellectual disability; profound hypotonia; strabismus; no seizures; recurrent infections, joint hypermobility; osteopenia, flat and broad long bone epiphyses; MRI severe atrophy of the cerebellar vermis and hemispheres 1 1 Johan den Dunnen
00361721 FamCPat3 PubMed: Boycott 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United States Hutterite-S - - - - ID birth length 5th–10th; birth weight 25th–50th; OFC normal; length -3 SD; weight -3 SD; OFC 50th; 2y-head control; 3y-sit; not walking; severe intellectual disability ; severe hypotonia; strabismus; no seizures; constipation; 16m-normal skeletal survey; MRI severe atrophy of the cerebellar vermis and hemispheres 1 1 Johan den Dunnen
00361722 FamDPat4 PubMed: Boycott 2015 2-generation family, 2 affected (2F), unaffected heterozygous carrier parents F - United States Hutterite-S - - - - ID birth length <5th; birth weight <5th; OFC <5th; length 5th; weight 10th; OFC 25th–50th; 2y-head control; sit with support; not walking; profound intellectual disability; severe hypotonia; strabismus; no seizures; recurrent infections; MRI severe atrophy of the cerebellar vermis and hemispheres; MRS normal 1 2 Johan den Dunnen
00361723 FamDPat5 PubMed: Boycott 2015 sister F - United States Hutterite-S - - - - ID birth length <5th; birth weight <5th; OFC <5th; length 5th; weight 10th; OFC 25th–50th; 2y-head control; sit with support; assisted walking; profound intellectual disability; severe hypotonia; strabismus; no seizures; recurrent infections 1 1 Johan den Dunnen
00361724 FamEPat6 PubMed: Boycott 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United States Hutterite-S - - - - ID birth weight 50th–75th; OFC >95th; length <5th; weight 25th–50th; OFC 95th; 2y-head control; sit with support; not walking; profound intellectual disability; severe hypotonia; no strabismus; seizures; recurrent infections; MRI progressive atrophy of the cerebellar vermis and hemispheres; MRS elevated lactate peak 1 1 Johan den Dunnen
00361725 FamFPat7 PubMed: Boycott 2015 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents F - Egypt Egypt - - - - ID birth length normal; birth weight normal; OFC normal; length 5th; weight 25th; OFC 50th; no head control; not sitting; assisted walking; severe intellectual disability ; severe hypotonia; strabismus; myoclonic seizures; hyperreflexia; MRI severe atrophy of the cerebellar vermis and hemispheres 1 2 Johan den Dunnen
00361726 FamFPat8 PubMed: Boycott 2015 brother M - Egypt Egypt - - - - ID birth length normal; birth weight normal; OFC normal; length 5th; weight 5th; OFC 50th; no head control; not sitting; not walking; severe intellectual disability ; severe hypotonia; strabismus; no seizures; hyperreflexia; MRI mild atrophy of the cerebellar vermis and hemispheres; cerebral atrophy, particularly of the frontal lobes 1 1 Johan den Dunnen
00361727 PatA PubMed: Park 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Germany - - - - - ID see paper; ..., cranial asymmetry, severe infantile spasms with hypsarrhythmia, dysproportionate dwarfism 2 1 Johan den Dunnen
00361728 PatB PubMed: Park 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - - - - ID see paper; ... 3 1 Johan den Dunnen
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