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
Back to search Result
Sex

Female

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Remarks

Cousin of 618170.1.1

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
Back to search Result
© CAGS 2024. All rights reserved.