All individuals with variants in gene NCOR1

2 entries on 1 page. Showing entries 1 - 2.
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AscendingIndividual ID     
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Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
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Owner     
00320349 Pat1 PubMed: Diaz 2020 - F - United States - - - - - ID no neonatal course; severe developmental delay/intellectual disability; autism spectrum disorder; 3.5y-walk; speech few words; developmental regression; hand stereotypies; no epilepsy; hypotonia; MRI brain normal; coarse facies; height -0.4SD, BMI 38.1 (obese), OFC +2.7SD; skin Blaschkoid pigmentary mosaicism; no umbilical hernia; no orthopedic anomalies; no strabismus; hepatomegaly; recurrent otitis media; clinical suspicion for lysosomal storage disorder 1 1 Johan den Dunnen
00385451 patient PubMed: Ackerman 2016 2-generation family, 1 affected, unaffected non-carrier parents M no United States - - - - - CHTD see paper; ..., mild pulmonary valve stenosis, mild aortic root dilatation, atrial septal defect, ventricular septal defect, patent ductus arteriosus (closed surgically); polyvalvular syndrome, involvement both semilunar and both atrioventricular valves; hypotonia, myopia, soft pale skin, joint hypermobility, mild facial dysmorphism 2 1 Johan den Dunnen
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