273750.5.2

Saudi Arabia

Severe short stature; Feeding difficulties; Triangular face; Broad forehead; Wide nose

Male

Yes

Yes

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

Relative of 273750.5.1

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity
273750.5.1	Saudi Arabia	Severe short stature; Feeding difficulties; Intrauterine growth retardation; Neonatal respiratory distress; Relative macrocephaly; Abnormal facial shape; Spina bifida occulta	Male	Yes	Yes