273750.5.1

Country

Saudi Arabia

HPO Terms

Severe short stature; Feeding difficulties; Intrauterine growth retardation; Neonatal respiratory distress; Relative macrocephaly; Abnormal facial shape; Spina bifida occulta

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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

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

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References

Al-Dosari et al. 2012;
Maddirevula et al. 2018

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
273750.5.2	Saudi Arabia	Severe short stature; Feeding difficulties; Triangular face; Broad forehead; Wide nose	Male	Yes	Yes	Relative of 273750.5.1

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Country

HPO Terms

Sex

Family History

Parental Consanguinity

Subject Variants

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References

Related Subjects

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© CAGS 2025. All rights reserved.