Condition: Cerebellar vermis hypoplasia


rs1562846694 in ACTL6B;TFR2 gene and Cerebellar vermis hypoplasia PMID 31134736 2019 Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination.

rs387907144 in ARID1B gene and Cerebellar vermis hypoplasia PMID 26350204 2015 Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.

PMID 22426309 2012 Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.

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