{{Rsnum
|rsid = 6701253
|Status = Merged
|Merged = 2228349
|Gene = HSPG2
|Orientation=minus
|ReferenceAllele=G
|MissenseAllele=A
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Chromosome=1
|position=21841112
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=HSPG2
}}{{Venter SNP
|rsid=6701253
|allele=T
|frequency=
|uid=1103675043247
|type=heterozygous_SNP
|hugo=HSPG2
|ensembl gene=ENSG00000142798
|ensembl transcript=ENST00000374695
|sift=AFFECT FUNCTION
|disease=Defects in HSPG2 are the cause of dyssegmental dysplasia Silverman-Handmaker type (DDSH) (MIM:224410). The dyssegmental dysplasias are rare, autosomal recessive skeletal dysplasias with anisospondyly and micromelia. There are two recognized types: the severe, lethal DDSH and the milder Rolland-Desbuquois form. Individuals with DDSH also have a flat face, micrognathia, cleft palate and reduced joint mobility, and frequently have an encephalocoele. The endochondral growth plate is short, the calcospherites (which are spherical calcium-phosphorus crystals produced by hypertrophic chondrocytes) are unfused, and there is mucoid degeneration of the resting cartilage.
}}

{{on chip | HumanOmni1Quad}}