273750.3.1

Saudi Arabia

Cutis laxa; Joint laxity; Global developmental delay; Failure to thrive; Proportionate short stature; Relative macrocephaly; Abnormal facial shape

Female

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease
NM_014780.5:c.1144C>T	2	NA	Three M Syndrome 1

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
273750.3.2	Saudi Arabia	Cutis laxa; Joint laxity; Global developmental delay; Failure to thrive; Proportionate short stature; Abnormal facial shape; Relative macrocephaly	Male	Yes	Yes	Brother of 273750.3.1