614749.1.1

Country

Tunisia

HPO Terms

Elevated circulating alkaline phosphatase concentration; Generalized tonic seizure; Focal tonic seizure; Status epilepticus; Global developmental delay; Ataxia; Dysphagia; Excessive salivation

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Sex

Female

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_032634.4:c.1132C>T	2		Hyperphosphatasia with Impaired Intellectual Development Syndrome 2

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Remarks

Patient has a family history of epileptic encephalopathy (deceased sister).

References

Aguech et al. 2023

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
614749.1.2	Tunisia		Male			Father of 614749.1.1
614749.1.3	Tunisia		Female			Mother of 614749.1.1