187600.2

United Arab Emirates

Death in infancy; Short long bone; Femoral bowing; Bilateral talipes equinovarus; Short ribs; Narrow chest; Platyspondyly

Unknown

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_000142.4:c.742C>T	1		Thanatophoric Dysplasia, Type I