616300.2

Saudi Arabia

Narrow chest; Abnormal facial shape; Relative macrocephaly; Hypertelorism; Abnormal oral cavity morphology

Female

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001375405.1:c.595G>C	2	NA	Short-Rib Thoracic Dysplasia 13 with or without Polydactyly

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
616300.1	Saudi Arabia	Stillbirth; Skeletal dysplasia; Polydactyly; Narrow chest; Limb undergrowth; Syndactyly	Male		Yes