{{Rsnum
|rsid=387906499
|Chromosome=X
|Orientation=minus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=CASK
|position=41636578
|Gene_s=CASK
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=T
|CHROM=X
|CLNACC=RCV000012287.23
|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.41495831C>T
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=300172.0002
|Disease=Mental retardation and microcephaly with pontine and cerebellar hypoplasia
|FwdALT=A
|FwdREF=G
|REF=C
|RSPOS=41495831
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000000000002110100
|WGT=0
|dbSNPBuildID=137
|rsid=387906499
|GENEINFO=CASK:8573
|GENE_ID=8573
|GENE_NAME=CASK
}}