612921.4.2

Saudi Arabia

Joint laxity; Intrauterine growth retardation; Severe short stature; Abnormal facial shape

Female

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_015311.3:c.1306del	2	NA	Three M Syndrome 2

Sibling of 612921.4.1

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
612921.4.1	Saudi Arabia	Joint laxity; Intrauterine growth retardation; Severe short stature; Abnormal facial shape	Male	Yes	Yes