218340.2.2

Country

Kuwait

HPO Terms

Hypotonia; Intellectual disability; Autistic behavior; Seizure; Hypoplasia of the corpus callosum; Abnormal thalamic size; Abnormal cerebral white matter morphology; Abnormality of the septum pellucidum; Hypoplastic anterior commissure ; Ventriculomegaly; Abnormality of pattern onset/offset visual evoked potentials; Atrial septal defect; Spasticity; EEG abnormality
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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
218340.2.1 KuwaitHypotonia; Intellectual disability; Autistic behavior; Seizure; Hypoplasia of the corpus callosum; Abnormal thalamic size; Abnormal cerebral white matter morphology; Abnormality of the septum pellucidumFemaleYesYesProband. Parents are first-cousins.
218340.2.3KuwaitHypotonia; Intellectual disability; Autistic behavior; Seizure; Agenesis of corpus callosum; Abnormal thalamic size; Abnormal cerebral white matter morphology; Abnormality of the septum pellucidum; Esotropia; Atrial septal defect; Spasticity; Pulmonic stenosis; Conductive hearing impairmentFemaleYesYesSibling of proband.
218340.2.5KuwaitMaleFather of proband.
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