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 NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_014780.5:c.2988G>A2NA

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
273750.5.2Saudi ArabiaSevere short stature; Feeding difficulties; Triangular face; Broad forehead; Wide noseMaleYesYesRelative of 273750.5.1
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