184095.1

Lebanon

Childhood-onset short-trunk short stature; Kyphoscoliosis; Short neck; Enlarged thorax; Genu valgum; Platyspondyly; Epiphyseal dysplasia

Female

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_021625.5:c.2396C>T	1		Spondyloepimetaphyseal Dysplasia, Maroteaux Type