620327.3.2

Tunisia

Male

Variant Name	Allele Count
NM_001001683.4:c.325C>T	1

Father of 620327.3.1

Related Subjects

Subject Id	Country	HPO Terms	Sex	Parental Consanguinity	Remarks
620327.3.1	Tunisia	Myoclonic seizure; Neonatal respiratory distress; Trismus; Cerebral cortical atrophy; Appendicular hypotonia; Thymus hyperplasia; Abnormality of pulmonary circulation; Neonatal death	Female	Yes	Patient from "family E" in the publication
620327.3.3	Tunisia		Female		Mother of 620327.3.1