All individuals with variants in gene ABCC1

2 entries on 1 page. Showing entries 1 - 2.
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00050510 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - 0 Decipher - ? polydactyly (feet), cerebellar hypoplasia, feeding difficulties in infancy, abnormality of the nervous system, enlarged cisterna magna, global developmental delay, dandy-walker malformation, neonatal alloimmune thrombocytopenia, abnormality of the penis, abnormality of the tongue, upslanted palpebral fissure, epicanthus, abnormality of the lip, abnormality of the ear, abnormality of the umbilicus, abnormality of eye movement 1 1 Johan den Dunnen
00050546 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - 0 Decipher - ? intrauterine growth retardation, short stature, clubbing, feeding difficulties in infancy, iga deficiency, microcephaly 1 1 Johan den Dunnen
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