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

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

Brother of 273750.3.1

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity
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