215151.2

Saudi Arabia

Sensorineural hearing impairment; Limb undergrowth; Relative macrocephaly; Narrow chest

Female

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_080680.3:c.2755G>C	2	NA	Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive