223800.G.1

Morocco

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

Unknown

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_017653.4:c.1447C>T	4	NA	Dyggve-Melchior-Clausen Disease

2 patients from Family 2 in the publication