All individuals with variants in gene IQSEC2

57 entries on 1 page. Showing entries 1 - 57.
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00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml) 6 1 Yu Sun
00000209 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml) 6 1 Yu Sun
00016979 - PubMed: Shoubridge 2010, Journal: Shoubridge 20105 5-generation family, 8 affected males, 7 unaffected heterozygous carrier females M no United States ? - - - - MRX;IDX see paper; ... 1 8 Johan den Dunnen
00016980 - PubMed: Shoubridge 2010, Journal: Shoubridge 20105 5-generation family, 12 affected males, 5 unaffected heterozygous carrier females, 2 with learning problems M no Australia 8 - - - - MRX;IDX moderate to severe ID, seizures in some males from adolescence; female carriers with varying level IS; see paper ... 1 1 Johan den Dunnen
00016981 - PubMed: Shoubridge 2010, Journal: Shoubridge 20105 5-generation family, 12 affected males, 8 unaffected heterozygous carrier females M no Australia - - - - - MRX;IDX all affected males remained non-syndromic with general good health; 2 males (III6,IV22) developed psychiatric problems and V5 has infrequent seizures; carrier females were less academically ablecompared to their non-carrier siblings; majority carrier F are well (1 developed schizophrenia) 1 12 Johan den Dunnen
00017014 Fam7 PubMed: Tzschach 2015 2-generation family, 1 affected, unaffected non-carrier mother M - - ? - - - - MRX;IDX severe non-syndromic intellectual disability 1 1 Andreas Tzschach
00017015 Pat19 PubMed: Tzschach 2015 - F - - ? - - - - MRX;IDX severe intellectual disability, epilepsy, borderline macrocephaly 1 1 Andreas Tzschach
00024236 - PubMed: Gilissen 2014 - - - - - - - - - ID severe ID, microcephaly, epilepsy, progressive spasticity, small hands/feet, poor vision 1 1 Johan den Dunnen
00038739 - PubMed: Shoubridge 2010, Journal: Shoubridge 20105 5-generation family, 4 affected males, 2 unaffected heterozygous carrier females, 1 learning problems M no Australia - - - - - MRX;IDX see paper; ... 1 4 Johan den Dunnen
00081545 FamPatII2 PubMed: Ewans 2017 2-generation family, 4 affected sisters, unaffected non-carrier parents F no Australia - - - - - EE see paper; ..., intellectual disability, epilepsy; two regression in adolescence, deceased (16y, 22y) presumed sudden unexpected death in epilepsy 1 4 Cheryl Shoubridge
00089214 - PubMed: Epi4K consortium 2016, Journal: Epi4K consortium 2016 - F - - - - - - - EE symptomatic generalized epilepsy 1 1 Johan den Dunnen
00102092 P22 - - M no China - >02y07m - - - ID HP:0004322; HP:0001999; HP:0000639; HP:0001290; global developmental delay (HP:0001263) 1 1 Wenjuan Qiu
00108458 26733290-Fam PubMed: Madrigal 2016 3-generation family, 3 affected males, 3 unaffected heterozygous carrier females M - Spain - - - - - ID see paper; ... 1 3 Irene Madrigal
00150176 26539891-FamBAB4892 PubMed: Karaca 2015 - - - - - - - family structure in paper - ? corpus callosum dysgenesis 1 1 Johan den Dunnen
00174867 01362 Cheryl Shoubridge - F ? Finland Finnish - - 68 - ID See manuscript, TBA; profound/severe intellectual disability (HP:0001249); profound global developmental delay (HP:0012736); no speech (HP:0001344) 1 1 Marie Shaw
00183166 25644381-FamN83 PubMed: Hu 2016 family, 1 affected M - - - - - - - MRX;IDX - 1 1 Johan den Dunnen
00229645 - - - M - - - - - - - ? Epileptic encephalopathy (HP:0200134); Intellectual disability (HP:0001249); Spastic tetraparesis (HP:0001285); Autistic behavior (HP:0000729) 1 1 IMGAG
00230654 - - - F - - - - - - - ? HP:0001263 (Global developmental delay) 1 1 IMGAG
00274290 - PubMed: Wayhelova 2020, Journal: Wayhelova 2020 2-generation family, 2 affected, unaffected carrier mother M no Czech Republic white >09y - - antiepileptic drug therapy epilepsy biotinidase deficiency, intellectual disability, developmental delay, autistic features, cortical blindness, intractable atonic seizures 1 2 Marketa Wayhelova
00274291 brother PubMed: Wayhelova 2020, Journal: Wayhelova 2020 brother of 00274290 M no Czech Republic white >02y - - antiepileptic drug therapy epilepsy biotinidase deficiency not related to epilepsy and neurodevelopmental disorders, intractable seizures, developmental delay, central hypotonia biotinidase deficiency not related to neurodevelopmental disorders 1 1 Marketa Wayhelova
00295076 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00295497 - - - F - - - - - - - ? Severe global developmental delay (HP:0011344) 1 1 Andreas Laner
00296776 APN-68 PubMed: Redin 2014 analysis 106 patients; 2-generation family, 1 affected, unaffected heterozygous carrier parents M - France - - - - - ID severe intellectual disability 1 1 Johan den Dunnen
00302886 Pat7 PubMed: Srivastava 2018 2-generation family, 1 affected, unaffected non-carrier parents F - United States - - - - - ID see paper; ..., intellectual disability, language regression, hypotonia 1 1 Johan den Dunnen
00303001 Pat46 PubMed: Helbig 2016 - - - United States - - - - - seizures Unclassified epilepsy; age onset childhood 1 1 Johan den Dunnen
00303002 Pat47 PubMed: Helbig 2016 - - - United States - - - - - seizures Unclassified epilepsy; age onset unknown 1 1 Johan den Dunnen
00303003 Pat48 PubMed: Helbig 2016 - - - United States - - - - - seizures Unclassified epilepsy; age onset unknown 1 1 Johan den Dunnen
00305981 Pat12 PubMed: Johannesen 2020 2-generation family, 1 affected, unaffected non-carrier parents F - Denmark - - - - - epilepsy - 1 1 Johan den Dunnen
00374348 S-5963 PubMed: Ganapathy 2019 - - - India - - - - - ? Developmental delay, speech regression, seizures, sterotypic hand movements and poor eye contact 1 1 Johan den Dunnen
00374349 S-1059 PubMed: Ganapathy 2019 - - - India - - - - - ? Hand flapping movements, microcephaly, tongue protrusion and autistic features 1 1 Johan den Dunnen
00374528 S-2691 PubMed: Ganapathy 2019 - - - India - - - - - ? Seizures, developmental regression and is currently on anti-epileptic medication. MRI showed diffuse cerebellar atrophy and EEG showed bilateral occipital epileptiform abnormalities 1 1 Johan den Dunnen
00374705 S-3730 PubMed: Ganapathy 2019 - - - India - - - - - ? - 1 1 Johan den Dunnen
00374765 S-4042 PubMed: Ganapathy 2019 - - - India - - - - - ? - 1 1 Johan den Dunnen
00387809 M8700056 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
00391755 154312 - - M no Germany - - - - - MRX1 Myoclonus, Absent speech, Atypical absence seizure, Multifocal epileptiform discharges, Severe global developmental delay 1 1 Andreas Laner
00391856 223P - - F no Spain - - - - - ID, MRX1 - 1 1 Alejandro Brea-Fernández
00398351 FAM-2 - - M no France white - - - - autism, EE, ID - 1 1 Cheryl Shoubridge
00398352 FAM 5 - - M no - white - - - - DD, EIEE - 1 1 Cheryl Shoubridge
00398522 Decipher306072/Pat1 PubMed: Moey 2015 - M - United Kingdom (Great Britain) - - - - - ID see paper; ..., 4y-speech delay, 4-5 words; poor socialization 1 1 Johan den Dunnen
00398523 Decipher27212/Pat2/FamPatIII1 PubMed: Moey 2015 4-generation family, 3 affected males, 4 unaffected carrier females M - United Kingdom (Great Britain) - - - - - ID see paper; ..., developmental delay, mild-moderate intellectual disability; no speech delay; autism spectrum disorder, physical aggression when frustrated, obsessive tendencies, dyspraxia 1 3 Johan den Dunnen
00398524 FamPatIII4 PubMed: Moey 2015 - M - United Kingdom (Great Britain) - - - - - ID see paper; ..., learning difficulties; attention-deficit hyperactivity disorder as child, obsession, dyspraxia, difficulties understanding value money 1 1 Johan den Dunnen
00398525 FamPatIII6 PubMed: Moey 2015 - M - United Kingdom (Great Britain) - - - - - ID see paper; ..., moderate learning difficulties; problems with expressive, receptive speech; autism spectrum disorder, attention-deficit hyperactivity disorder as a child, obsessive behavior 1 1 Johan den Dunnen
00398526 Decipher308362/Pat3 PubMed: Moey 2015 - M - United Kingdom (Great Britain) - - - - - ID see paper; ..., global developmental delay; severe expressive speech delay; behavioral problems, requiring special education 1 1 Johan den Dunnen
00398527 Decipher249420/A119 PubMed: Froyen 2008, PubMed: Froyen 2012, PubMed: Moey 2015 - M - United Kingdom (Great Britain) - - - - - ID see paper; ..., developmental delay, mild-moderate intellectual disability; delayed speech development; febrile seizures, attention-deficit hyperactivity disorder 1 1 Johan den Dunnen
00398528 Pat4 PubMed: Moey 2015 - - - - - - - - - ID see paper; ..., severe intellectual disability; 11y-speech delay, no words; microcephaly, hypotonia, hypogonadism, myoclonus; 11y-st, 11y-not walking 1 1 Johan den Dunnen
00398529 A057 PubMed: Froyen 2008, PubMed: Froyen 2012, PubMed: Moey 2015 - - - - - - - - - ID see paper; ..., moderate intellectual disability; speech delay, limited speech later in life; hyperactive 1 1 Johan den Dunnen
00398530 ON1 PubMed: Froyen 2012, PubMed: Moey 2015 - - - - - - - - - ID see paper; ..., developmental delay, mild-moderate intellectual disability; marked speech delay, 7y-partial lack of speech; hyperactivity, attention problems, self-destructing behavior; facial abnormalities 1 1 Johan den Dunnen
00398531 AU88848 PubMed: Froyen 2012, PubMed: Moey 2015 - - - - - - - - - ID see paper; ..., mild intellectual disability; 1 1 Johan den Dunnen
00398532 FTD PubMed: Froyen 2012, PubMed: Moey 2015 - - - - - - - - - ID see paper; ..., developmental delay, mild intellectual disability ; speech delay; functional heart murmur, chronic vomiting, diarrhea, urolithiasis, bilateral inguinal hernia, cryptorchidism; facial dysmorphies; paroxysmal sleep episodes; attention-deficit hyperactivity disorder, hyperactivity; EEG abnormal 1 1 Johan den Dunnen
00398533 F538 PubMed: Froyen 2012, PubMed: Moey 2015 - M - - - - - - - ID see paper; ..., moderate intellectual disability; stutter, limited speech; 1 1 Johan den Dunnen
00398534 A009/MRX17 {PMID Gedeon 1994:7943039}, PubMed: Froyen 2008, PubMed: Froyen 2012, PubMed: Moey 2015 - - - Australia - - - - - ID see paper; ..., mild intellectual disability; slow speech development; hyperactivity 1 1 Johan den Dunnen
00428022 A180 PubMed: Bournazos 2022 family, 1 affected - - Australia - - - - - ? - 1 1 Johan den Dunnen
00430721 - - - - yes Pakistan - - - - - epilepsy - 1 1 Sadaf Naz
00438332 Pat50 PubMed: Chuan 2022 - M - China - - - - - epilepsy HP:0001250 seizures; HP:0003593 infantile onset; HP:0001265 hyporeflexia; HP:0002353 eeg abnormality; HP:0006872 cerebral hypoplasia; HP:0011182 epileptiform eeg discharges; HP:0002333 motor deterioration; HP:0000750 delayed speech and language development; HP:0001252 muscular hypotonia 1 1 Johan den Dunnen
00438565 HSC0006 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures DEE - 1 1 Johan den Dunnen
00438608 HSC0066 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures DEE - 1 1 Johan den Dunnen
00438644 HSJ0144 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures DEE - 1 1 Johan den Dunnen
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