620327.3.1

Country

Tunisia

HPO Terms

Myoclonic seizure; Neonatal respiratory distress; Trismus; Cerebral cortical atrophy; Appendicular hypotonia; Thymus hyperplasia; Abnormality of pulmonary circulation; Neonatal death

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Sex

Female

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Associated Disease
NM_001001683.4:c.325C>T	2	Neurodegeneration with Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, and Brain Abnormalities

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Remarks

Patient from "family E" in the publication

References

Calì et al. 2022

Related Subjects

Subject Id	Country	Sex	Remarks
620327.3.2	Tunisia	Male	Father of 620327.3.1
620327.3.3	Tunisia	Female	Mother of 620327.3.1