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 NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_001168370.2:c.263del2

Remarks

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

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
273750.2.2United Arab EmiratesShort stature; Small for gestational age; Growth delayFemaleYesYesSister of 273750.2.1
273750.2.3United Arab EmiratesMaleFather of 273750.2.1
273750.2.4United Arab EmiratesFemaleMother of 273750.2.1
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