245200.1

Country

Palestine

HPO Terms

Seizure; Hyperacusis; Optic atrophy; Abnormal muscle tone; Spasticity; Areflexia
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Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000153.4:c.1630G>A2

Remarks

Patient belongs to a large Arab muslim pedigree with multiple affected members

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
245200.2PalestineSeizure; Hyperacusis; Optic atrophy; Abnormal muscle tone; Spasticity; AreflexiaYesYesPatient belongs to a large Druze pedigree with multiple affected members
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