618170.1.9

Country

United Arab Emirates

HPO Terms

Neurological speech impairment; Motor regression; Seizure; Global developmental delay; EEG with generalized epileptiform discharges; Cerebellar atrophy; Unsteady gait; Sensorineural hearing impairment; Kyphoscoliosis ; Cardiac arrest

Remarks

Cousin of 618170.1.1
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Sex

Female

Family History

Yes

Parental Consanguinity

Yes

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
618170.1.1United Arab EmiratesNeurological speech impairment; Motor regression; Seizure; Global developmental delay; Death in childhoodMaleYesYesPatient from 'family 1' in the publication
618170.1.2United Arab EmiratesDelayed speech and language development; Seizure; Death in childhoodFemaleYesYesSister of 618170.1.1
618170.1.3United Arab EmiratesNeurological speech impairment; Motor regression; Seizure; Global developmental delay; Unsteady gait ; Death in childhoodMaleYesYesBrother of 618170.1.1
618170.1.4United Arab EmiratesNeurological speech impairment; Motor regression; Seizure; Global developmental delay; Unsteady gait; Hypotonia; Recurrent respiratory infections; Death in childhoodMaleYesYesBrother of 618170.1.1
618170.1.5United Arab EmiratesDelayed speech and language development; Motor regression; Seizure; Global developmental delay; Unsteady gaitMaleYesYesBrother of 618170.1.1
618170.1.6United Arab EmiratesMotor regression; Seizure; Death in childhoodFemaleYesYesCousin of 618170.1.1
618170.1.7United Arab EmiratesSeizure; Death in childhoodFemaleYesYesCousin of 618170.1.1
618170.1.8United Arab EmiratesNeurological speech impairment; Motor regression; Seizure; Global developmental delay; EEG with generalized epileptiform discharges; Cerebellar atrophy; Axonal loss; Unsteady gait; Type 2 muscle fiber atrophy; Recurrent respiratory infections; Cardiac arrest; Death in childhoodMaleYesYesCousin of 618170.1.1
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