Condition: Hypoplasia of corpus callosum
rs1562846694
in
ACTL6B;TFR2
gene and
Hypoplasia of corpus callosum
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
Hypoplasia of corpus callosum
PMID 22426309
2012 Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.
PMID 26350204
2015 Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.
rs180177035
in
BRAF
gene and
Hypoplasia of corpus callosum
PMID 16474404
2006 Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome.
PMID 16439621
2006 Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome.
rs672601368
in
KIF1A
gene and
Hypoplasia of corpus callosum
PMID 26486474
2016 De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome.
rs587777893
in
MTOR
gene and
Hypoplasia of corpus callosum
PMID 27159400
2016 Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.
rs312262717
in
SPG11
gene and
Hypoplasia of corpus callosum
PMID 19194956
2009 SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration.