614091.1

Saudi Arabia

Abnormal facial shape; Global developmental delay; Chronic kidney disease; Renal hypoplasia; Cone-shaped epiphysis

Female

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_020779.4:c.206G>A	2		Short-Rib Thoracic Dysplasia 7 with or without Polydactyly