{{Rsnum
|rsid=387906705
|Chromosome=X
|Orientation=minus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=CASK
|position=41561588
|Gene_s=CASK
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=A
|CHROM=X
|CLNACC=RCV000022833.11
|CLNALLE=1
|CLNDBN=Mental retardation and microcephaly with pontine and cerebellar hypoplasia
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C2677903:300749:163937
|CLNHGVS=NC_000023.10:g.41420841G>A
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=300172.0012
|Disease=Mental retardation and microcephaly with pontine and cerebellar hypoplasia
|FwdALT=T
|FwdREF=C
|REF=G
|RSPOS=41420841
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000000000002110100
|WGT=0
|dbSNPBuildID=137
|rsid=387906705
|GENEINFO=CASK:8573
|GENE_ID=8573
|GENE_NAME=CASK
}}