231050.3

Country

Algeria

HPO Terms

Short stature; Mitral stenosis; Tricuspid stenosis

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000138.4:c.5117G>A1

Remarks

de novo mutation

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
231050.2AlgeriaShort staturede novo mutation
231050.4AlgeriaShort stature; Hepatomegalyde novo mutation
231050.6AlgeriaShort stature; Bilateral ptosis; Deep palmar crease; Low-set ears; Hypertelorism; Hemangioma; Systolic heart murmurFemaleYes
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