218340.3.2

Country

Libya

HPO Terms

Abnormal facial shape; Intellectual disability; Autistic behavior; Hypotonia; Agenesis of corpus callosum; Abnormal thalamic size; Abnormal cerebral white matter morphology; Abnormality of the septum pellucidum; Atrial septal defect; Ventriculomegaly; Optic atrophy
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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_138425.4:c.1A>G2

Remarks

Sibling of proband.

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
218340.3.1LibyaAbnormal facial shape; Intellectual disability; Autistic behavior; Seizure; EEG Abnormality; Hypoplasia of the corpus callosum; Abnormal thalamic size; Abnormal cerebral white matter morphology; Abnormality of the septum pellucidum; Hypoplastic anterior commissure; Spasticity; Atrial septal defectMaleYesYesProband.
218340.3.3LibyaFemaleMother of proband.
218340.3.4LibyaMaleFather of proband.
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