618019.1

Saudi Arabia

Short stature; Long thorax; Limb undergrowth; Thick vermilion border; Downslanted palpebral fissures; Macrocephaly

Male

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_002296.4:c.1535G>A	2		Rhizomelic Skeletal Dysplasia with or without Pelger-Huet Anomaly