613676.3.5

Country

Saudi Arabia

HPO Terms

Microcephaly; Short stature; Intrauterine growth retardation; Convex nasal ridge; Underdeveloped nasal alae; Retrognathia; High forehead; Prominent nasal bridge; Low-set ears
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Sex

Female

Family History

No

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_018451.4:c.3302-1G>C

Remarks

Relative of 608393.3.1 (second cousin, once removed)

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
613676.3.1Saudi ArabiaMicrocephaly; Short stature; Intrauterine growth retardation; Convex nasal ridge; Underdeveloped nasal alae; Retrognathia; High forehead; Prominent nasal bridge; Low-set earsFemaleNoYes
613676.3.2Saudi ArabiaMicrocephaly; Short stature; Intrauterine growth retardation; Convex nasal ridge; Underdeveloped nasal alae; Retrognathia; High forehead; Prominent nasal bridge; Low-set earsFemaleNoYesSibling of 608393.3.1
613676.3.3Saudi ArabiaMicrocephaly; Short stature; Intrauterine growth retardation; Convex nasal ridge; Underdeveloped nasal alae; Retrognathia; High forehead; Prominent nasal bridge; Low-set earsMaleNoYesRelative of 608393.3.1 (Second cousin, once removed)
613676.3.4Saudi ArabiaMicrocephaly; Short stature; Intrauterine growth retardation; Convex nasal ridge; Underdeveloped nasal alae; Retrognathia; High forehead; Prominent nasal bridge; Low-set earsFemaleNoYesRelative of 608393.3.1 (second cousin, once removed)
613676.3.6Saudi ArabiaMicrocephaly; Short stature; Intrauterine growth retardation; Convex nasal ridge; Underdeveloped nasal alae; Retrognathia; High forehead; Prominent nasal bridge; Low-set earsMaleNoYesRelative of 608393.3.1
613676.3.7Saudi ArabiaMicrocephaly; Short stature; Intrauterine growth retardation; Convex nasal ridge; Underdeveloped nasal alae; Retrognathia; High forehead; Prominent nasal bridge; Low-set earsFemaleNoYesRelative of 608393.3.1
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