614615.2

Country

Saudi Arabia

HPO Terms

Hypotonia; Global developmental delay; Abnormal facial shape; Strabismus; Oculomotor apraxia; Facial palsy
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Sex

Female

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_001384732.1:c.8150_8151del2

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
614615.1Saudi ArabiaHypotonia; Global developmental delay; Abnormal facial shape; Strabismus; Hemifacial spasm; Oculomotor apraxiaFemaleNoYes
614615.3Saudi ArabiaHypotonia; Global developmental delay; Abnormal facial shape; Strabismus; Oculomotor apraxia; Orbital encephalocele; Abnormal electroretinogramFemaleYesYesHad a similarly affected sibling
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