Saudi Arabia

HPO Terms

Short stature; Frontal bossing; Generalized joint laxity; Abnormal facial shape

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
273750.6Saudi ArabiaShort stature; Abnormal heart morphology; Osteopenia; Midface retrusionFemaleYes
273750.7Saudi ArabiaShort stature; Abnormal facial shape; Failure to thriveFemaleNo
273750.9Saudi ArabiaFailure to thrive; Microcephaly; Postnatal growth retardation; Motor delay; Delayed speech and language development; HypotoniaMaleNoYes
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