223800.4

Lebanon

Short stature; Microcephaly; Scoliosis; Rhizomelia; Iliac crest serration

Unknown

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_017653.4:c.1252-1G>A	2	NA	Dyggve-Melchior-Clausen Disease

Patient from Family 10 in the publication