615071.3.1

Country

Algeria

HPO Terms

Intellectual disability, severe; Severe postnatal growth retardation; Mild microcephaly; Anxiety; Autistic behavior; Lower limb spasticity; Hyperactive deep tendon reflexes; Abnormal facial shape; Cutis marmorata; Bilateral tonic-clonic seizure
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Sex

Female

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_016648.4:c.503_504dup2

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
615071.3.2AlgeriaIntellectual disability, severe; Severe postnatal growth retardation; Mild microcephaly; Anxiety; Autistic behavior; Lower limb spasticity; Hyperactive deep tendon reflexes; Abnormal facial shape; Cutis marmorataFemaleYesYesSibling of 615071.3.1
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