615071.2.5

Country

Saudi Arabia

HPO Terms

Severe postnatal growth retardation; Intellectual disability, severe; Abnormal facial shape
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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_016648.4:c.1024_1030dup2

Remarks

Sibling of 615071.2.3

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
615071.2.1Saudi ArabiaSevere postnatal growth retardation; Intellectual disability, severe; Abnormal facial shape; KyphoscoliosisMaleYesYes
615071.2.2Saudi ArabiaSevere postnatal growth retardation; Intellectual disability, severe; Abnormal facial shape; ScoliosisFemaleYesYesSibling of 615071.2.1
615071.2.3Saudi ArabiaSevere postnatal growth retardation; Intellectual disability, severe; Abnormal facial shape; Self-mutilationMaleYesYesRelative of 615071.2.1
615071.2.4Saudi ArabiaSevere postnatal growth retardation; Intellectual disability, severe; Abnormal facial shapeMaleYesYesSibling of 615071.2.3
615071.2.6Saudi ArabiaSevere postnatal growth retardation; Intellectual disability, severe; Abnormal facial shape; Abnormality of the Achilles tendonFemaleYesYesRelative of 615071.2.1
615071.2.7Saudi ArabiaSevere postnatal growth retardation; Intellectual disability, severe; Abnormal facial shape; Abnormality of the Achilles tendon; Self-mutilationMaleYesYesSibling of 615071.2.6
615071.2.8Saudi ArabiaSevere postnatal growth retardation; Intellectual disability, severe; Abnormal facial shapeFemaleYesYesSibling of 615071.2.6
615071.2.9Saudi ArabiaSevere postnatal growth retardation; Intellectual disability, severe; Abnormal facial shapeFemaleYesYesSibling of 615071.2.6
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