228930.1

Saudi Arabia

Abnormal pelvic girdle bone morphology; Aplasia/Hypoplasia of the nails; Aplasia/hypoplasia of the extremities

Female

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_004625.4:c.610G>A	2		Fibular Aplasia or Hypoplasia, Femoral Bowing and Poly-, Syn-, and Oligodactyly