All individuals with variants in gene POMGNT1

147 entries on 2 pages. Showing entries 1 - 100.
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Population     

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Disease     

Phenotype details     

Variants     

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00000061 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00000076 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00095185 28765568-Pat1 PubMed: Xu 2017 - - - China - - 0 - - MEB - 1 1 Xiaona Fu
00095186 28765568-Pat2 PubMed: Xu 2017 - - - China - - 0 - - MEB - 2 1 Xiaona Fu
00095188 28765568-Pat3 PubMed: Xu 2017 - - - China - - 0 - - MEB - 2 1 Xiaona Fu
00151468 ? PubMed: Oliveira 2008 - F - Portugal - - 0 - - MDC brain changes; intellectual disability (HP:0001249) 1 1 Rosário dos Santos
00152130 - PubMed: Taniguchi 2003 - F - Korea, South (Republic) - - 0 - - MDC - 1 1 Johan den Dunnen
00152131 15466003-Pat25 PubMed: Diesen 2004 - - - United States - - 0 - - MEB - 1 1 Johan den Dunnen
00152132 15466003-Pat23 PubMed: Diesen 2004 - - - United States - - 0 - - MEB - 1 1 Johan den Dunnen
00152133 15466003-Pat22 PubMed: Diesen 2004 - - - Estonia - - 0 - - MEB - 1 1 Johan den Dunnen
00152134 12849864-PatB PubMed: Zhang 2003 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - >07y 0 - - MEB - 1 1 Johan den Dunnen
00152135 15833426-Pat2 PubMed: Matsumoto 2005 - M - Japan - >00y06m 0 - - MEB see paper; ..., CPK 6900; intellectual disability (HP:0001249) 2 1 Johan den Dunnen
00152137 15466003-Pat29/30 PubMed: Diesen 2004 2-generation family, 2 affected siblings, unaffected heterozygous carrier parents - - Israel Arab - 0 - - MEB - 1 2 Johan den Dunnen
00152138 11709191-PatSA PubMed: Yoshida 2001, PubMed: Manya 2008 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Turkey - - 0 - - MEB - 1 1 Johan den Dunnen
00152139 15466003-Pat26 PubMed: Diesen 2004 - - - United States - - 0 - - MEB - 1 1 Johan den Dunnen
00152140 15466003-Pat21 PubMed: Diesen 2004 - - - Norway - - 0 - - MEB - 1 1 Johan den Dunnen
00152141 15466003-Pat19 PubMed: Diesen 2004 - - - Sweden - - 0 - - MEB - 1 1 Johan den Dunnen
00152142 15466003-Fams PubMed: Diesen 2004 18 affecteds 13 families (1 consanguineous, second-cousin parents); shared founder haplotype F;M - Finland - - 0 - - MEB - 1 18 Johan den Dunnen
00152143 16427280-PatK PubMed: Vajsar 2006 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M - United States - - 0 - - MEB see paper; ..., CPK ?, severe intellectual disability (HP:0010864) 1 2 Johan den Dunnen
00152144 16427280-PatR PubMed: Vajsar 2006 PatR M - - - - 0 - - MEB see paper; ..., CPK 4485; severe intellectual disability (HP:0010864) 1 1 Johan den Dunnen
00152145 - PubMed: Zhang 2003 - - - - - >1y 0 - - MEB severly reduced enzyme activity 2 1 Johan den Dunnen
00152146 11709191-PatYA PubMed: Yoshida 2001 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Turkey - - 0 - - MEB - 1 1 Johan den Dunnen
00152147 11709191-PatKO PubMed: Yoshida 2001 - M yes Turkey - - 0 - - MEB - 1 1 Johan den Dunnen
00152148 17906881-Pat5 PubMed: Haliloglu 2004, PubMed: Hehr 2007 2-generation family, unaffected heterozygous carrier parents F yes Turkey - >15y 0 - - MEB severe autistic features; CPK 1868 1 2 Johan den Dunnen
00152149 11709191-PatMK PubMed: Yoshida 2001, PubMed: Taniguchi 2003, PubMed: Zhang 2003, PubMed: Manya 2003 2-generation family, 4 affecteds (3M, 1F), unaffected heterozygous carrier parents M ? Turkey - - 0 - - MEB - 1 4 Johan den Dunnen
00152150 11709191-PatCC PubMed: Yoshida 2001, PubMed: Manya 2003 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Turkey - - 0 - - MEB - 1 1 Johan den Dunnen
00152151 - PubMed: Taniguchi 2003 - F - Italy - - 0 - - WWS atypical phenotype; congenital muscular dystrophy, retinal dysplasia, cerebellar vermis hypoplasia, type II lissencephaly, hydrocephalus 2 1 Johan den Dunnen
00152152 11709191-PatTLG PubMed: Yoshida 2001, PubMed: Zhang 2003, PubMed: Manya 2003 2-generation family, 1 affected, unaffected heterozygous carrier parents M - France - - 0 - - MEB - 2 1 Johan den Dunnen
00152153 15236414-FamK6914PatII1 PubMed: Vervoort 2004, PubMed: Vajsar 2006 2-generation family, 2 affecteds (sister/brother), unaffected heterozygous carrier parents F no United States white - 0 - - MEB 20w ultra sound abnormal hydrocephalus; 42w-delivered by C-section, head 37 cm, hypotonia; 5dhead 38cm, bradycardia, ventriculoperitoneal shunt placed; 4w-corneal clouding, bilateral glaucoma, high myopia, staphylomas, optic nerve hypoplasia, retinal degeneration, cortical cataracts, nystagmus; 5m-epilepsy; complex partial with secondary generalized tonic-clonic and atypical absence seizures, status epilepticus 2x, ECG abnormal-slowing, left focal and spike waves; 6y-weaned from antiepileptic medication; severe to profound cognitive delays, mental retardation, averbal, no regression; severe/profound gross and fine motor delays with diffuse hypotonia, reflexes normal, HC at 10th percentile, height and weight 2nd percentile, low hairline, everted lower lip, short nasal bridge, mild micrognathia, midface hypoplasia; CK 2327 IU/l; CT/MRI brain abnormal with ventriculoperitoneal shunt 3 2 Johan den Dunnen
00152154 - PubMed: Taniguchi 2003, PubMed: Manya 2003 - F - Japan American - 0 - - WWS phenotype hypotonia, high VEP, cataracts, cerebellar vermis hypoplasia, type II lissencephaly 2 1 Johan den Dunnen
00152155 15466003-Pat31 PubMed: Diesen 2004, PubMed: Pascual-Castroviejo probably same patient in both papers M - Spain - - 0 - - MEB - 2 1 Johan den Dunnen
00152156 - PubMed: Taniguchi 2003, PubMed: Manya 2003 - M - Japan - - 0 - - MDC - 2 1 Johan den Dunnen
00152157 15833426-Pat3 PubMed: Taniguchi 2003, PubMed: Manya 2003, PubMed: Matsumoto 2005 - F - Japan - >01y 0 - - MEB see paper; ..., CPK 8019; intellectual disability (HP:0001249) 2 1 Johan den Dunnen
00152158 - PubMed: Taniguchi 2003, PubMed: Manya 2003 - F - Belgium - - 0 - - MDC - 2 1 Johan den Dunnen
00152159 15466003-Pat27/28 PubMed: Diesen 2004 2-generation family, 2 affecteds, unaffected heterozygous carrier parents - - United States - - 0 - - MEB - 2 2 Johan den Dunnen
00152160 15466003-Pat20 PubMed: Diesen 2004 - - - Sweden - - 0 - - MEB - 2 1 Johan den Dunnen
00152161 15466003-Pat18 PubMed: Diesen 2004 - - - Finland - - 0 - - MEB - 2 1 Johan den Dunnen
00152162 15466003-Pat24 PubMed: Diesen 2004 - M - United States - - 0 - - MEB - 2 1 Johan den Dunnen
00152163 - PubMed: Longman 2004 - M - United Kingdom (Great Britain) Anglo-Irish >2y 0 - - MEB CPK 1567 2 1 Johan den Dunnen
00152164 16427280-PatI PubMed: Zhang 2003, PubMed: Vajsar 2006 2-generation family, 2 affected sibs, unaffected heterozygous carrier parents F - - - >02y 0 - - MEB see paper; ... 2 2 Johan den Dunnen
00152165 15466003-Pat32 PubMed: Diesen 2004 - - - Italy - - 0 - - MEB - 1 1 Johan den Dunnen
00152166 15466003-con PubMed: Diesen 2004 - - - Finland - - 0 - - Healthy/Control - 1 3 Johan den Dunnen
00152167 17878207-Pat22 PubMed: Godfrey 2007 - - - - - - 0 - - MDC Muscle-Eye-Brain/Fukuyama congenital muscular dystrophy like; no contractures, spine unaffected, ptosis, retinal atrophy, MRI cerebellar hypoplasia, hydrocephalus, white matter abnormality, cerebellar cysts, dyspraxia, feeding difficulties, seizures; ?microcephaly; CPK 2800; intellectual disability (HP:0001249); able to run 2 1 Johan den Dunnen
00152168 - PubMed: Godfrey 2007 - - - - - - 0 - - MD - 1 1 Johan den Dunnen
00152169 17878207-Pat19 PubMed: Godfrey 2007, PubMed: Clement - - - - - - 0 - - MDC Muscle-Eye-Brain/Fukuyama Congenital Muscular Dystrophy like; contractures, hypertrophy, spine unaffected, optical atrophy, myopia, no microcepahly, cerebellar cysts, white matter abnormality, seizures, feeding difficulties; CPK 1000; intellectual disability (HP:0001249); able to walk 2 1 Johan den Dunnen
00152170 17878207-Pat21 PubMed: Godfrey 2007 - - - - - - 0 - - MDC Muscle-Eye-Brain/Fukuyama congenital muscular dystrophy like; no contractures, no hypertrophy, spine unaffected, retinal detachment, hydrocephaly, cerebellar cysts, white matter abnormality, seizures, feeding difficulties; microcephaly; CPK 1200; intellectual disability (HP:0001249); onset neonatal; no motor ability 1 1 Johan den Dunnen
00152171 17878207-Pat24 PubMed: Godfrey 2007, PubMed: Clement - - - - - - 0 - - WWS spine unaffected, MRI cerebellar hypoplasia, hydrocephalus, white matter abnormality, cerebellar cysts, lissencephaly; no eye involvement, ?microcephaly; CPK 1300; intellectual disability (HP:0001249); onset neonatal; not able to sit 1 1 Johan den Dunnen
00152172 17878207-Pat20 PubMed: Godfrey 2007, PubMed: Clement 2008 - F no Ireland - >21y 0 - - LGMD no contractures, hypertrophy, spine unaffected, weakness lower limbs > upper limbs, myopia, no microcephaly; CPK 5000-12000; no intellectual disability (-HP:0001249); able to run, normal milestones, 19y-lost ability to walk 1 1 Johan den Dunnen
00152173 17878207-Pat23 PubMed: Godfrey 2007 - - - - - - 0 - - MDC MRI hydrocephalus, white matter abnormality, cerebellar cysts,; onset neonatal 1 1 Johan den Dunnen
00152174 - PubMed: Godfrey 2007 - - - - - - 0 - - MD - 1 1 Johan den Dunnen
00152175 17878207-Pat37 PubMed: Godfrey 2007 - - - - - - 0 - - MD - 1 1 Johan den Dunnen
00152176 17878207-Pat38 PubMed: Godfrey 2007 - - - - - - 0 - - MD - 1 1 Johan den Dunnen
00152177 17878207-Pat39 PubMed: Godfrey 2007 - - - - - - 0 - - MD - 1 1 Johan den Dunnen
00152178 - PubMed: Godfrey 2007 - - - - - - 0 - - MD - 1 1 Johan den Dunnen
00152179 - PubMed: Godfrey 2007 - - - - - - 0 - - MD - 1 1 Johan den Dunnen
00152180 - PubMed: Godfrey 2007 - - - - - - 0 - - MD - 1 1 Johan den Dunnen
00152181 - PubMed: Godfrey 2007 - - - - - - 0 - - MD - 1 1 Johan den Dunnen
00152182 17878207-Pat18 PubMed: Godfrey 2007 - - - - - - 0 - - MDC Muscle-Eye-Brain/Fukuyama congenital muscular dystrophy like; no contractures, no hypertrophy, congenital glaucoma, hydrocephaly, cerebellar cysts, white matter abnormality, brainstem involvement, ?microcephaly; CPK 780; intellectual disability (HP:0001249); onset infant; not able to walk 1 1 Johan den Dunnen
00152183 - PubMed: Godfrey 2007 - - - - - - 0 - - MD - 1 1 Johan den Dunnen
00152184 - PubMed: Manya 2008 - - - - - - 0 - - MDC - 2 1 Johan den Dunnen
00152185 - PubMed: Manya 2008 - - - - - - 0 - - MDC - 2 1 Johan den Dunnen
00152186 17559086-Fam14 PubMed: Bouchet 2007 aborted fetus - - (France) - <00y00m00d 0 - - LIS - 2 1 Johan den Dunnen
00152187 17559086-Fam15 PubMed: Bouchet 2007 2 aborted fetuses - - (France) - <00y00m00d 0 - - LIS - 2 2 Johan den Dunnen
00152188 17559086-Fam16 PubMed: Bouchet 2007 aborted fetus - - (France) - <00y00m00d 0 - - LIS - 3 1 Johan den Dunnen
00152189 17559086-Fam17 PubMed: Bouchet 2007 aborted fetus - - (France) - <00y00m00d 0 - - LIS - 2 1 Johan den Dunnen
00152190 17559086-Fam18 PubMed: Bouchet 2007 aborted fetus - - (France) - <00y00m00d 0 - - LIS - 1 1 Johan den Dunnen
00152191 17559086-Fam19 PubMed: Bouchet 2007 aborted fetus - - (France) - <00y00m00d 0 - - LIS - 1 1 Johan den Dunnen
00152192 17881266-Pat2 PubMed: Teber 2008 younger sib M yes Taiwan - 06y 0 - - MEB seizures, epilepsy, brain lissencephaly; CPK 572; intellectual disability (HP:0001249); onset neonatal; no motor ability 1 1 Rosário dos Santos
00152193 17881266-Pat1 PubMed: Teber 2008 2-generation family, 2 affected sibs, unaffected heterozygous carrier parents; intrafamilial clinical heterogeneity F yes Turkey - >14y 0 - - MEB brain MRI changes; CPK 1200; moderate intellectual disability (HP:0002342); onset neonatal; able to sit with support 1 2 Rosário dos Santos
00152195 17906881-Pat2a PubMed: Hehr 2007 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M - Germany - - 0 - - MEB tonic clonic seizures; CPK 2600 1 2 Rosário dos Santos
00152196 17906881-Pat2b PubMed: Hehr 2007 Pat2b M - Germany - - 0 - - MEB tonic clonic seizures, hydrocephaly, brain MRI changes, gallbladder hydrops; CPK 1600; onset neonatal 1 1 Rosário dos Santos
00152197 17906881-Pat3 PubMed: Hehr 2007 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Germany - >16y 0 - - MEB tonic clonic seizures, hydrocephaly, brain MRI changes, autistic behaviour; CPK 724 1 1 Rosário dos Santos
00152198 17906881-Pat4 PubMed: Hehr 2007 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Germany - >04y 0 - - MEB spastic tetraparesis, no seizures, hydrocephaly, polymicrogyria; CPK increased; able to sit with support 2 1 Rosário dos Santos
00152199 - PubMed: Hehr 2007 - M yes Turkey - >6y 0 - - MEB CPK 190; onset neonatal; no motor ability 2 1 Rosário dos Santos
00152200 17906881-Pat7 PubMed: Haliloglu 2004, PubMed: Hehr 2007 2-generation family, 1 affected, unaffected heterozygous carrier parents (first-degree parents) M yes Turkey - >02y 0 - - MEB seizures, severe hydrocephaly, brain changes; CPK 1000; onset neonatal; able to sit with support 1 1 Rosário dos Santos
00152201 17906881-Pat8 PubMed: Hehr 2007 - F - - - >05y 0 - - MEB seizures, hydrocephaly,cerebellar cysts; CPK 1950; mild intellectual disability (HP:0001256); onset neonatal 2 1 Rosário dos Santos
00152202 - - - F - (United States) - - 0 - - MEB - 2 1 Tom Winder
00152203 - PubMed: Willer 2012 - - - (United States) - - 0 - - MEB - 3 1 Tom Winder
00152204 - - - - - United States - - 0 - - MEB congenital glaucoma, hydrocephalus; CPK elevated 2 1 Tom Winder
00152205 - - - M - Canada Arab - 0 - - MDC polymicrogyria, cerebellopontine hypoplasia 1 1 Tom Winder
00152206 - - - F - Saudi Arabia Arab - 0 - - MEB - 1 1 Tom Winder
00152207 - PubMed: Clement 2008-Pat20 - - - - - - 0 - - MDC no microcephaly, myopia, retinal dysplasia; CPK 740; intellectual disability (HP:0001249) 2 1 Johan den Dunnen
00152208 - PubMed: Clement 2008-Pat23 - - - - - - 0 - - MDC microcephaly, myopia; CPK 1500; intellectual disability (HP:0001249) 2 1 Johan den Dunnen
00152209 21727005-Pat1 PubMed: Vuillaumier-Barrot 2011 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Tunisia - >08y 0 - - MEB MRI brain dilated ventricles, pachygyria, cerebellar cysts, never walked, axial hypotonia requiring molded seat, epilepsy, severe eye dysfunction (right blindness, left severe myopia); CPK 900 UI/l; not able to walk 1 2 Johan den Dunnen
00152210 21727005-Pat2 PubMed: Vuillaumier-Barrot 2011 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Algeria;France - >08y 0 - - MEB 2m life-threatening cyanosis in context gastrooesophageal reflux, hypotonia, motor development delayed, scoliosis, MR with absent verbal ability, autistic signs, shifty eyes, severe myopia; 4y muscle biopsy discrete fiber size variability, slightly increased connective endomysial tissue, EMG myopathic changes, normal nerve conduction velocities, ERG moderate macular activity, MRI brain atrophy brain stem, abnormality periventricular white matter; CPK 800-1000 UI/l; intellectual disability (HP:0001249); 5y-able to walk 2 1 Johan den Dunnen
00152211 - - - - - United States - - 0 - - MEB - 2 1 Tom Winder
00152212 - - - F - United States white - 0 - - MDC - 2 1 Tom Winder
00152213 - from website {DBsub-Emory} - - - (United States) - - 0 - - ? - 1 1 Madhuri Hegde
00152214 - from website {DBsub-Emory} - - - (United States) - - 0 - - ? - 1 1 Madhuri Hegde
00152215 - from website {DBsub-Emory} - - - (United States) - - 0 - - ? - 1 1 Madhuri Hegde
00152216 - from website {DBsub-Emory} - - - (United States) - - 0 - - ? - 1 1 Madhuri Hegde
00152217 - from website {DBsub-Emory} - - - (United States) - - 0 - - ? - 1 1 Madhuri Hegde
00152218 - from website {DBsub-Emory} - - - (United States) - - 0 - - ? - 1 1 Madhuri Hegde
00152219 - from website {DBsub-Emory} - - - (United States) - - 0 - - ? - 1 1 Madhuri Hegde
00152220 - from website {DBsub-Emory} - - - (United States) - - 0 - - ? - 1 1 Madhuri Hegde
00152221 - from website {DBsub-Emory} - - - (United States) - - 0 - - ? - 1 1 Madhuri Hegde
00152222 - from website {DBsub-Emory} - - - (United States) - - 0 - - ? - 1 1 Madhuri Hegde
00152223 - from website {DBsub-Emory} - - - (United States) - - 0 - - ? - 1 1 Madhuri Hegde
00152224 - from website {DBsub-Emory} - - - (United States) - - 0 - - ? - 1 1 Madhuri Hegde
00152225 - from website {DBsub-Emory} - - - (United States) - - 0 - - ? - 1 1 Madhuri Hegde
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