All individuals with variants in gene MEF2C

4 entries on 1 page. Showing entries 1 - 4.
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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 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
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