273750.7

Saudi Arabia

Short stature; Abnormal facial shape; Failure to thrive

Female

Variant Name	Allele Count	Allele Frequency	Associated Disease
NM_014780.5:c.2863-1G>C	2	NA	Three M Syndrome 1

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity
273750.6	Saudi Arabia	Short stature; Abnormal heart morphology; Osteopenia; Midface retrusion	Female		Yes
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