273750.9

Saudi Arabia

Failure to thrive; Microcephaly; Postnatal growth retardation; Motor delay; Delayed speech and language development; Hypotonia

Male

Yes

Variant Name	Allele Count	Associated Disease
NM_014780.5:c.2988G>A	2	Three M Syndrome 1

Related Subjects

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