277300.3

Saudi Arabia

Short stature; Scoliosis; Short neck; Skeletal dysplasia; Pectus excavatum; Failure to thrive

Female

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_016941.4:c.329del	2	NA	Spondylocostal Dysostosis, Autosomal Recessive, 1

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
277300.5	Saudi Arabia	Scoliosis; Pectus carinatum; Short neck; Short stature; Hemivertebrae; Block vertebrae	Female		No