234200.3

Country

Morocco

HPO Terms

Loss of ambulation; Postural instability; Frequent falls; Spasticity; Global developmental delay; Athetosis; Dystonia; Opisthotonus; Oromandibular dystonia; Retrocollis; Agitation; Irritability; Sleep abnormality; Insomnia

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Sex

Female

Family History

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Associated Disease
NM_001386393.1:c.846_847del	2	Neurodegeneration with Brain Iron Accumulation 1

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References

Efthymiou et al. 2020

Related Subjects

Subject Id	Country	Sex	Remarks
234200.3.2	Morocco	Male	Father of 234200.3.1