125310.2

Country

United Arab Emirates

HPO Terms

Global developmental delay; Hypotonia; Abnormal facial shape; Seizure; Gait ataxia; Cerebellar hypoplasia
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Sex

Female

Family History

No

Parental Consanguinity

Yes

Subject Variants

Remarks

De novo mutation

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
125310.3United Arab EmiratesGlobal developmental delay; Recurrent cerebral hemorrhage; Delayed speech and language development; LeukodystrophyMaleYesYesSimilarly affected cousins
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