All individuals with variants in gene ERBB3

3 entries on 1 page. Showing entries 1 - 3.
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00204350 FamPatIII2 PubMed: Joziasse 2011 3-generation family, 1 affected M - Netherlands - - 0 - - ASD Down syndrome, congenital heart defect; unaffected carrier father 1 5 LOVD
00395401 FamPatII2/III3 PubMed: Joziasse 2011 mother/sister F - Netherlands - - 0 - - Healthy/Control - 1 2 Johan den Dunnen
00399529 Fam6Pat6 PubMed: Kury 2022 - F - - - - 0 - - NDD weight 30 (-4.35), height 125.7 (-6), OFC 50 (-2.86); growth failure; severe developmental/intellectual delay ; not achieved walking; speech delay, not achieved first words, no speech; hypotonia; no seizures; 1y/2y/12y-MRI brain hypomyelination subcrotical white matter bilaterally in anterotemporal and subinsular areas, loss of white matter volume in the parieto-occipital areas with thin splenium, minimal volume loss vermis; behavioural anomalies, autism spectrum disorder; no cardiac anomalies; bilateral ptosis, hypermetropia, astigmatism.; no urogenital/kidney anomalies; hands brachdactyly, proximal implant of thumbs; feet bilateral talipes; short broad neck, thoraco-lumbal kyfosis, pterygyum, bilateral hip dysplasia; feeding difficulties; facial dysmorphism, short broad neck, thoraco-lumbal kyfosis, pterygyum, bilateral hip dysplasia; hypertrichosis 2 1 Johan den Dunnen
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