620327.1.1

Country

Saudi Arabia; Yemen

HPO Terms

Neonatal respiratory distress; Hypotonia; Global developmental delay; Myoclonic seizure; Dysgyria; Cerebellar hypoplasia; Cerebellar atrophy; Nystagmus; Abnormal facial shape; Patent ductus arteriosus; Atrial septal defect; Bilateral cryptorchidism; Abnormality of the kidney

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Sex

Male

Family History

Yes

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 B" in the publication

References

Calì et al. 2022

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
620327.1.2	Saudi Arabia; Yemen	Neonatal respiratory distress; Hypotonia; Abnormal facial shape; Atrial septal defect; Bilateral cryptorchidism; Exaggerated startle response; Dysgyria; Cerebellar atrophy; Inferior cerebellar vermis hypoplasia; Cerebral white matter hypoplasia; Hydronephrosis	Male	Yes	Yes	Brother of 620327.1.1
620327.1.3	Saudi Arabia; Yemen		Male			Father of 620327.1.1
620327.1.4	Saudi Arabia; Yemen		Female			Mother of 620327.1.1