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.