Condition: Hip Dysplasia


rs1555639076 in BPTF gene and Hip Dysplasia PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

rs864309488 in GMNN gene and Hip Dysplasia PMID 26637980 2015 De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome.

rs1034395178 in LZTR1 gene and Hip Dysplasia PMID 29469822 2018 Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.

rs431905504 in SLC6A3 gene and Hip Dysplasia PMID 22279524 2012 Genetic mapping and exome sequencing identify variants associated with five novel diseases.

rs1554022725 in UFSP2;C4orf47 gene and Hip Dysplasia PMID 28892125 2018 Novel spondyloepimetaphyseal dysplasia due to UFSP2 gene mutation.