All individuals with variants in gene HERC2

39 entries on 1 page. Showing entries 1 - 39.
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00072301 patient PubMed: Morice-Picard 2016 - M yes France Africa 02y - - - ? axial hypotonia (HP:0008936), peripheral hypertonia (HP:0001276), ductus arteriosus (HP:0001643), pulmonary hypertension (HP:0002092), albinism (HP:0001022) 1 1 Morice-Picard
00074519 18172690 blue eyes PubMed: Eiberg 2008, Journal: Eiberg 2008 - - - Denmark - - - - - ? Blue irides (HP:0000635) 2 150 Pieter Klap
00074520 18172690 brown eyes PubMed: Eiberg 2008, Journal: Eiberg 2008 - - - Denmark - - - - - Healthy/Control No blue irides (-HP:0000635) 2 46 Pieter Klap
00081051 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - MRT38 Mental retardation, autosomal recessive 38 (OMIM:615516) 1 1 Daniel Trujillano
00245699 - - 3 families (7 patients) F yes United States Old Order Amish - - - - ? global developmental delay; autism spectrum disorder 1 7 Erik G. Puffenberger
00266412 - Laboratorio de Diversidad Genética IMBICE, La Plata, Argentina analysis 87 individuals F;M - Argentina admixed - - - - SHEP - 1 36 CEMIC - Genotyping - Angela Solano
00266413 - Laboratorio de Diversidad Genética IMBICE, La Plata, Argentina analysis 87 individuals F;M - Argentina admixed - - - - SHEP - 1 51 CEMIC - Genotyping - Angela Solano
00291167 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 27 Mohammed Faruq
00296606 Pat39 PubMed: Taylor 2014 - M - United Kingdom (Great Britain) British - - - - ? muscle affected; central nervous system affected; heart not affected; liver not affected; central hypotonia, ptosis, deafness 2 1 Johan den Dunnen
00305912 Pat4 PubMed: Marcogliese 2018 2-generation family, 1 affected, unaffected parents F - - - - - - - NDD, VMD no dysmorphisms; motor regression present (age onset unknown); 12y-single words; unsteady gait, clumsy, 12y-mostly wheelchair-bound; 12y-loss of fine motor skills; excessive drooling; 12y-lost continence; 15y-lower extremity dystonia; bilateral ptosis, macular degeneration; 12y-poor balance; Bracken Basics Concepts III Receptive and School Readiness Composite, Conner’s Parent Rating Scale, 6y-Child Behavior Checklist intellectual functioning at approximately 1-3 year level; 13y-epilepsy, spells that consist of falling that last about 1 min; EEG 6.5y-no electrographic or electroclinical sz, but photic stim produced photoconvulsive response, 13y-moderately abnormal - recorded photo myoclonic sz during intermittent photic stim, generalized interictal epileptiform features, sleep architecture was additionally somewhat disrupted with high-voltage rhythmic delta; MRI brain 6y-normal, 13y-normal, 15y-thin corpus callosum but overall within normal limits, MRI brain 13y-spine normal, 15y-spine normal 1 1 Johan den Dunnen
00373621 FamPatII3 PubMed: Elpidorou 2021 2-generation family, 3 affected (2F, M) F yes United Kingdom (Great Britain) - 7y - - - ID normal speech; age walking normal; profound intellectual disability; childhood hypotonia; seizures; cortical migration defect, absent corpus callosum; blindness 1 3 Johan den Dunnen
00373622 FamPatII5 PubMed: Elpidorou 2021 brother M yes United Kingdom (Great Britain) - 4y - - - ID normal speech; age walking normal; profound intellectual disability; childhood hypotonia; no seizures; cortical migration defect, absent corpus callosum; blindness 1 1 Johan den Dunnen
00373623 FamPatII6 PubMed: Elpidorou 2021 sister F yes United Kingdom (Great Britain) - - - - - ID normal speech; age walking normal; profound intellectual disability; childhood hypotonia; seizures; cortical migration defect, absent corpus callosum; blindness 1 1 Johan den Dunnen
00373624 FamAPatVIII7 PubMed: Harlalka 2013 large multigeneration family, 11 affected (7F, 4M) F yes United Kingdom (Great Britain) - - - - - ID speech 100 words; 4y4m-walk; moderate intellectual disability; childhood hypotonia; no seizures; neuroimaging normal; no blindness 1 11 Johan den Dunnen
00373625 FamAPatVIII8 PubMed: Harlalka 2013 - M yes United Kingdom (Great Britain) - - - - - ID speech <30 words; 4y4m-walk; moderate/severe intellectual disability; childhood hypotonia; no seizures; no blindness 1 1 Johan den Dunnen
00373626 FamAPatIX1 PubMed: Harlalka 2013 - F yes United Kingdom (Great Britain) - - - - - ID speech short sentence; 4; moderate intellectual disability; childhood hypotonia; no seizures; no blindness 1 1 Johan den Dunnen
00373627 FamAPatIX6 PubMed: Harlalka 2013 - M yes United Kingdom (Great Britain) - - - - - ID speech short sentence; 4; moderate intellectual disability; childhood hypotonia; seizures; no blindness 1 1 Johan den Dunnen
00373628 FamAPatIX7 PubMed: Harlalka 2013 - F yes United Kingdom (Great Britain) - - - - - ID speech short sentence; 4; moderate intellectual disability; childhood hypotonia; no seizures; neuroimaging normal; no blindness 1 1 Johan den Dunnen
00373629 FamAPatX1 PubMed: Harlalka 2013 - F yes United Kingdom (Great Britain) - - - - - ID speech <30 words; 4; moderate intellectual disability; childhood hypotonia; no seizures; neuroimaging normal; no blindness 1 1 Johan den Dunnen
00373630 FamAPatX2 PubMed: Harlalka 2013 - F yes United Kingdom (Great Britain) - - - - - ID speech 10 words; 4; moderate intellectual disability; childhood hypotonia; no seizures; no blindness 1 1 Johan den Dunnen
00373631 FamAPatX4 PubMed: Harlalka 2013 - F yes United Kingdom (Great Britain) - - - - - ID normal speech; age walking normal; moderate/severe intellectual disability; childhood hypotonia; no seizures; absent corpus callosum; no blindness 1 1 Johan den Dunnen
00373632 FamAPatX5 PubMed: Harlalka 2013 - F yes United Kingdom (Great Britain) - - - - - ID speech short sentence; 5; moderate intellectual disability; childhood hypotonia; no seizures; no blindness 1 1 Johan den Dunnen
00373633 FamAPatXI2 PubMed: Harlalka 2013 - M yes United Kingdom (Great Britain) - - - - - ID speech limited; 3y6m-walk; mild intellectual disability; childhood hypotonia; no seizures; no blindness 1 1 Johan den Dunnen
00373634 FamAPatXI3 PubMed: Harlalka 2013 - M yes United Kingdom (Great Britain) - - - - - ID speech 20 words; age walking normal; moderate intellectual disability; childhood hypotonia; seizures; absent corpus callosum; no blindness 1 1 Johan den Dunnen
00373635 FamBPatIX8 PubMed: Harlalka 2013 9-generation family, 4 affected (2F, 2M) M yes United Kingdom (Great Britain) - - - - - ID speech short sentence; 4y6m-walk; mild/moderate intellectual disability; seizures; absent corpus callosum; no blindness 1 4 Johan den Dunnen
00373636 FamBPatIX10 PubMed: Harlalka 2013 brother M yes United Kingdom (Great Britain) - - - - - ID speech short sentence; 4; mild/moderate intellectual disability; no seizures; no blindness 1 1 Johan den Dunnen
00373637 FamBPatIX1 PubMed: Harlalka 2013 sister F yes United Kingdom (Great Britain) - - - - - ID normal speech; age walking normal; moderate intellectual disability; no blindness 1 1 Johan den Dunnen
00373638 FamBPatIX2 PubMed: Harlalka 2013 sister F yes United Kingdom (Great Britain) - - - - - ID speech <10 words; age walking normal; mild/moderate intellectual disability; no blindness 1 1 Johan den Dunnen
00373639 Michigan-P1 PubMed: Puffenberger 2012 - - yes United States Amish - - - - ID global developmental delay, intellectual disability; delayed adaptive hand use; delayed independent ambulation, gait instability; autistic behaviour, aggression or self injury; neonatal hypotonia; ; no blindness 1 3 Johan den Dunnen
00373640 Michigan-P2 PubMed: Puffenberger 2012 - - yes United States Amish - - - - ID global developmental delay, intellectual disability; delayed adaptive hand use; delayed independent ambulation, gait instability; autistic behaviour, aggression or self injury; neonatal hypotonia; ; no blindness 1 1 Johan den Dunnen
00373641 Michigan-P3 PubMed: Puffenberger 2012 - - yes United States Amish - - - - ID global developmental delay, intellectual disability; delayed adaptive hand use; delayed independent ambulation; ; no blindness 1 1 Johan den Dunnen
00373642 Wisconsin-P1 PubMed: Puffenberger 2012 - F yes United States Amish‐Mennonite - - - - ID global developmental delay, intellectual disability; delayed adaptive hand use; delayed independent ambulation, gait instability; autistic behaviour; inattention, distractibility; febrile seizure; ; no blindness 1 2 Johan den Dunnen
00373643 Wisconsin-P2 PubMed: Puffenberger 2012 - F yes United States Amish‐Mennonite - - - - ID global developmental delay, intellectual disability; delayed adaptive hand use; delayed independent ambulation, gait instability; autistic behaviour, aggression or self injury; inattention, distractibility; febrile seizure; ; no blindness 1 1 Johan den Dunnen
00373644 Ohio-P1;#1 PubMed: Puffenberger 2012, PubMed: Abraham 2019 - F - United States Amish - - - - ID global developmental delay, intellectual disability; delayed adaptive hand use; delayed independent ambulation, gait instability; autistic behaviour; neonatal hypotonia; inattention, distractibility; no blindness 1 2 Johan den Dunnen
00373645 Ohio-P2;#2 PubMed: Puffenberger 2012, PubMed: Abraham 2019 - M - United States Amish - - - - ID global developmental delay, intellectual disability; delayed adaptive hand use; delayed independent ambulation, gait instability; autistic behaviour, aggression or self injury; neonatal hypotonia; inattention, distractibility; no blindness 1 1 Johan den Dunnen
00373646 #3 PubMed: Abraham 2019 - M - United States Jewish-Ashkenazi - - - - ID see paper; ..., speech few words; age walking normal; intellectual disability, autism, abnormal gait; no childhood hypotonia; no seizures 1 1 Johan den Dunnen
00373647 #4 PubMed: Abraham 2019 - F - United States Pakistan - - - - ID see paper; ..., speech 2y-10 words, 3y-short sentence; age walking normal; +; no childhood hypotonia; seizures; neuroimaging normal; no blindness 1 1 Johan den Dunnen
00467784 Fam056PatBAB6942 PubMed: Charng 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents - yes Saudi Arabia - - - - - NDD - 1 1 Johan den Dunnen
00468969 - PubMed: Retterer 2016 analysis proband (1/3040); possible combination of variants not reported - - United States - - - - - ? - 1 1 Johan den Dunnen
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