Condition: Dysmorphic facies


rs1135402760 in BRSK2 gene and Dysmorphic facies PMID 30879638 2019 Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder.

rs1064795104 in EXOC6B gene and Dysmorphic facies PMID 23422942 2013 Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation.

PMID 25256811 2014 Mosaic deletion of EXOC6B: further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability.

rs531630376 in PCDH12 gene and Dysmorphic facies PMID 30459466 2019 Homozygous PCDH12 variants result in phenotype of cerebellar ataxia, dystonia, retinopathy, and dysmorphism.

rs1554297905 in RALA gene and Dysmorphic facies PMID 30500825 2018 De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay.

rs869312741 in SMG9 gene and Dysmorphic facies PMID 27018474 2016 Mutations in SMG9, Encoding an Essential Component of Nonsense-Mediated Decay Machinery, Cause a Multiple Congenital Anomaly Syndrome in Humans and Mice.

rs267607116 in TMEM67 gene and Dysmorphic facies PMID 19508969 2009 Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11).

rs369634007 in TMEM87B gene and Dysmorphic facies PMID 27148590 2016 Discovery of a potentially deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion suggests a recessive condition characterized by congenital heart disease and restrictive cardiomyopathy.