All individuals with variants in gene NRAP

4 entries on 1 page. Showing entries 1 - 4.
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00225584 Proband PubMed: Truszkowska 2017 Proband. Unaffected brother (35y) is also homozygous for this variant. M no Poland - - - - see paper CMD Low-output congestive heart failure (HP:0009805), mitral regurgitation (HP:0001653), severely reduced ejection fraction (HP:0012666), left ventricular hypertrophy (HP:0001712), abnormal mitral valve physiology (HP:0031481), left atrial enlargement (HP:0031295), right atrial enlargement (HP:0030718), ventricular tachycardia (HP:0004756) 1 1 Jilani Jawaid
00334627 - PubMed: Maranhao 2015 analysis 25 Pedigrees - - Pakistan - - - - - retinal disease - 1 5 LOVD
00430656 12 - - M no China Asia 04y? - - - LVNC Echocardiogram showed enlarged left atrium and ventricle, prominent trabecular meshwork and deep intertrabecular recesses, mild mitral valve regurgitation, tricuspid regurgitation, pulmonary hypertension(36mmHg) and reduced cardiac function (Left ventricular ejection fraction (LVEF):35.5%), and the ratio of the thickness of the non-compacted layer to that of the compacted layer was 3.136 at the end of diastole. The ECG revealed sinus tachycardia, ventricular pre-excitation and T wave changes in some leads 1 2 Chunli Wang
00466330 318C - - M ? Hong Kong Chinese - - - - ADHD - 1 1 Larry Baum
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