612780.1.2

Country

Arab

HPO Terms

Bilateral tonic-clonic seizure; Global developmental delay; Delayed speech and language development; Brisk reflexes; Ataxia; Dysdiadochokinesis; Intellectual disability; Diffuse cerebral atrophy; Cerebellar atrophy; Cervical spinal cord atrophy
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Sex

Female

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Remarks

Sister of 612780.1.1

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
612780.1.1ArabFocal-onset seizure; Global developmental delay; Delayed speech and language development; Intellectual disability; Nystagmus; Dysarthria; Brisk reflexes; Babinski sign; Limb ataxia; Gait ataxia; DysdiadochokinesisFemaleYesYesProband
612780.1.3ArabBilateral tonic-clonic seizure; Ataxia; Dysarthria; Dysdiadochokinesis; Dysmetria; Brisk reflexes; Babinski sign; Cerebellar atrophyMaleYesYesBrother of 612780.1.1
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