265800.G.1

Saudi Arabia

Osteopetrosis; Frontal bossing; Depressed nasal bridge; Acromesomelia; Pectus carinatum

Male

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_000396.4:c.244-29A>G	10	NA	Pycnodysostosis

Five related patients