273750.2.1

Country

United Arab Emirates

HPO Terms

Short stature; Small for gestational age; Growth delay; Triangular face; Pointed chin; Macrocephaly; Prominent forehead; Long philtrum; Short digit; Hyperextensible thumb; Prominent calcaneus; Hyperlordosis

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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001168370.2:c.263del	2		Three M Syndrome 1

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Remarks

The patient also had two similarly affected sisters that died in the first year of life with respiratory failure

References

Deeb et al. 2015

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
273750.2.2	United Arab Emirates	Short stature; Small for gestational age; Growth delay	Female	Yes	Yes	Sister of 273750.2.1
273750.2.3	United Arab Emirates		Male			Father of 273750.2.1
273750.2.4	United Arab Emirates		Female			Mother of 273750.2.1