273750.6

Saudi Arabia

Short stature; Abnormal heart morphology; Osteopenia; Midface retrusion

Female

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease
NM_014780.5:c.263del	2	NA	Three M Syndrome 1

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity
273750.7	Saudi Arabia	Short stature; Abnormal facial shape; Failure to thrive	Female		No
273750.8	Saudi Arabia	Short stature; Frontal bossing; Generalized joint laxity; Abnormal facial shape	Male
273750.9	Saudi Arabia	Failure to thrive; Microcephaly; Postnatal growth retardation; Motor delay; Delayed speech and language development; Hypotonia	Male	No	Yes