All individuals with variants in gene B3GALNT2

27 entries on 1 page. Showing entries 1 - 27.
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00057846 - PubMed: Stevens 2013 - M ? United Kingdom (Great Britain) Turkish - - - - MEB delayed gross motor skills, unable to walk, communication limited, vision intact; brain involvement not detected in prenatal scans; severe hyptonia; CPK: 894 U/L 2 1 Johan den Dunnen
00057847 - PubMed: Stevens 2013 unaffected carrier parents ? ? United Kingdom (Great Britain) Turkish - - - - Healthy/Control - 1 2 Johan den Dunnen
00057848 - - - F - - - - - - - MD - 2 1 Johan den Dunnen
00057849 - PubMed: Stevens 2013 - F no South Africa - - - - - WWS terminated pregnancy, fetus severe hydrocephalus, ocular malformations (fetal ultrasound) 2 2 Johan den Dunnen
00057850 - PubMed: Stevens 2013 unaffected carrier mother F no South Africa - - - - - Healthy/Control - 1 1 Johan den Dunnen
00057851 - PubMed: Stevens 2013 unaffected carrier mother F no United States white - - - - Healthy/Control - 1 1 Johan den Dunnen
00057852 - PubMed: Stevens 2013 unaffected carrier mother F no United Kingdom (Great Britain) Europe - - - - Healthy/Control - 1 1 Johan den Dunnen
00057853 - PubMed: Stevens 2013 - M no South Africa - - - - - WWS brain MRI severe hydrocephalus, cobblestone lissencephaly, epilepsy, severe hyptonia, did not attain any motor milestones; CPK: 6964 U/L 2 2 Johan den Dunnen
00057854 - PubMed: Stevens 2013 unaffected carrier father M no South Africa - - - - - Healthy/Control - 1 1 Johan den Dunnen
00057855 - PubMed: Stevens 2013 - F ? Saudi Arabia - - - - - MEB less severe, clinical/radiological features dystroglycanopathy, brain MRI abnormal white matter signal T2-weighted, severe hyptonia, did not attain any motor milestones; CPK: 1740 U/L 2 1 Johan den Dunnen
00057856 - PubMed: Stevens 2013 unaffected carrier parents ? ? Saudi Arabia - - - - - Healthy/Control - 1 2 Johan den Dunnen
00057857 - PubMed: Stevens 2013 - F no United States white - - - - WWS brain MRI severe hydrocephalus, cobblestone lissencephaly, epilepsy, severe hyptonia, did not attain any motor milestones; CPK: 21000 U/L 2 1 Johan den Dunnen
00057858 - PubMed: Stevens 2013 unaffected carrier father M no United States white - - - - Healthy/Control - 1 1 Johan den Dunnen
00057859 - PubMed: Stevens 2013 - M no United Kingdom (Great Britain) Europe - - - - MEB all motor milestones delayed (axial hypotonia/increased limb tone due to spasticity); never acquired independent walking; 6y-able to take steps with hands held, using standing device; communication skills mostly confined to sign language, vision severely impaired (marked myopia complicated by bilateral partial retinal detachment); brain MRI cerebellar cysts, thin corpus callosum, diffusely abnormal white matter signal on T2-weighted images, cortical dysplasia (frontoparietal polymicrogyria); severe hyptonia; CPK: 1132 U/L 2 1 Johan den Dunnen
00057860 - PubMed: Stevens 2013 unaffected carrier father M no United Kingdom (Great Britain) Europe - - - - Healthy/Control - 1 1 Johan den Dunnen
00057861 - PubMed: Stevens 2013 - M ? United States Hispanic - - - - WWS brain MRI severe hydrocephalus, cobblestone lissencephaly, severe hyptonia, did not attain any motor milestones; CPK: 1086 U/L 2 1 Johan den Dunnen
00057862 - PubMed: Stevens 2013 unaffected carrier parents ? ? United States Hispanic - - - - Healthy/Control - 1 2 Johan den Dunnen
00289751 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00289752 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00289753 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00289754 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 9 Mohammed Faruq
00289755 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 5 Mohammed Faruq
00387732 M224 PubMed: Hu 2019 family, 3 affected individuals, first cousin parents - yes - Azeri - - - - ID syndromic intellectual disability, no microcephaly 1 3 Johan den Dunnen
00387898 M9100007 PubMed: Hu 2019 family, 2 affected individuals, first cousin parents - yes Iran Persia - - - - ID non-syndromic intellectual disability, no microcephaly 1 2 Johan den Dunnen
00390615 Pat132 PubMed: Song 2021 - M - China - - - - - MDDG muscle-eye-brain disease; 1y-sit supported; contractures knee; intellectual disability; no seizures; esotropia; CK level 3305 IU/L; MRI brain polymicrogyria or pachygyria, cerebellar abnormalities with or without brainstem hypoplasia 2 1 Johan den Dunnen
00390616 Pat133 PubMed: Song 2021 - M - China - - - - - MDDG muscle-eye-brain disease; 1y1m-walk supported; no contractures; intellectual disability; no seizures; esotropia; CK level 103 IU/L; MRI brain polymicrogyria or pachygyria, cerebellar abnormalities with or without brainstem hypoplasia 2 1 Johan den Dunnen
00390617 Pat134 PubMed: Song 2021 - M - China - - - - - MDDG muscle-eye-brain disease; 1y3m-walk supported; no contractures; intellectual disability; no seizures; esotropia; CK level 565 IU/L; MRI brain polymicrogyria or pachygyria, cerebellar abnormalities with or without brainstem hypoplasia 2 1 Johan den Dunnen
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