617186.1.1

Tunisia

Generalized hypotonia; Febrile status epilepticus; Periventricular white matter hyperintensities; Death in infancy

Male

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_144772.3:c.641T>A	2		Encephalopathy, Progressive, Early-Onset, with Brain Edema and/or Leukoencephalopathy, 1

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
617186.1.2	Tunisia		Male			Father of 617186.1.1
617186.1.3	Tunisia		Female			Mother of 617186.1.1