All individuals with variants in gene MEF2C

11 entries on 1 page. Showing entries 1 - 11.
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00050624 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - 0 Decipher - ? visual impairment, seizures, seizures, infantile axial hypotonia, gastroesophageal reflux, recurrent infections due to aspiration 1 1 Johan den Dunnen
00102091 P21 - - F no China - >02y04m - - - ID HP:0001999; HP:0000733; HP:0001629; HP:0001250; global developmental delay (HP:0001263) 1 1 Wenjuan Qiu
00226266 28902616-proband-fam PubMed: Yuan 2017 proband, affected daughter (26y) and brother (49y), father (48y) died of heart failure - ? China Han Chinese - 0 - - CMD moderately reduced ejection fraction (HP:0012665), left ventricular diastolic dysfunction (HP:0025168) 1 3 Jilani Jawaid
00269493 Pat2 PubMed: Mikhail 2011, Journal: Mikhail 2011 - M - - - - 0 - - ? see paper; ..., developmental delay, no behavioral problems, no seizures, expressive and receptive language delay, relative macrocephaly, epicanthic folds, flat nasal bridge, posteriorly rotated ears, hyperkinesis with stereotypic movement of hands and feet, MRI brain normal 1 1 Johan den Dunnen
00288221 Pat31 PubMed: Lee 2019 - - - United States - - 0 - - ? absent speech, agitation, asymmetric ventricles, autistic behavior, brain atrophy, developmental delay, dilation of lateral ventricles, dysmetria, dystonia, hypotonia, increased variability in muscle fiber diameter, motor delay, muscle weakness, pes valgus, poor coordination, poor suck, tall stature 1 1 Johan den Dunnen
00293922 - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00303021 Pat66 PubMed: Helbig 2016 - - - United States - - 0 - - seizures Unclassified epilepsy; age onset unknown 1 1 Johan den Dunnen
00303022 Pat67 PubMed: Helbig 2016 - - - United States - - 0 - - seizures Fever related seizures; age onset childhood 1 1 Johan den Dunnen
00303104 T23549 PubMed: Carvill 2013 2-generation family, 1 affected, unaffected non-carrier parents F - - - - 0 - - EE seizures febrile seizure (13m), absence, status epilepticus, tonic-clonic; EEG multi-focal discharges, diffuse slowing; development prior to seizures delayed; Severe intellectual disability, autism spectrum disorder, regression 1 1 Johan den Dunnen
00303105 T18044 PubMed: Carvill 2013 2-generation family, 1 affected, unaffected parents M - - - - 0 - - EE seizures hemiclonic (4m), absence, atonic, focal, infantile spasms, myoclonic jerks, tonic-clonic; EEG Mod Hyps, multi-focal discharges; development prior to seizures normal; intellectual disability, no regression 1 1 Johan den Dunnen
00305988 Pat19 PubMed: Johannesen 2020 - F - Denmark - - 0 - - epilepsy - 1 1 Johan den Dunnen
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