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.