602271.1.1

Country

Saudi Arabia

HPO Terms

Short stature; Hypermetropia; Strabismus; Rhizomelia; Micrognathia; Generalized joint laxity
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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_001271440.1:c.640-23A>T2NA

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
602271.1.2Saudi ArabiaShort stature; Hypermetropia; Strabismus; Rhizomelia; Micrognathia; Generalized joint laxityMaleYesYesRelative of 602271.1.1
602271.1.3Saudi ArabiaShort stature; Hypermetropia; Strabismus; Rhizomelia; Micrognathia; Generalized joint laxityFemaleYesYesRelative of 602271.1.1
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