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).