218340.4.1

Country

Palestine

HPO Terms

Abnormal facial shape; Intellectual disability; Autistic behavior; Seizure; Spasticity; Abnormality of toe; Hyperglycemia; Hypoplasia of the 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

Proband.

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
218340.4.2PalestineAbnormal facial shape; Hypotonia; Microcephaly; Microphthalmia; Iris coloboma; Intellectual disability; Autistic behavior; Seizure; Spasticity; Diabetes mellitus; Abnormality of toe; Agenesis of corpus callosum; Abnormal thalamic size; Hypoplastic anterior commissure; Abnormal third ventricle morphology; Abnormal cerebral white matter morphology; Atrial septal defect; Ventriculomegaly; Optic atrophyFemaleYesYesSibling of proband.
218340.4.3PalestineFemaleMother of proband.
218340.4.4PalestineMaleFather of proband.
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