615419.6

Tunisia

Bilateral tonic-clonic seizure with generalized onset; Chorea; Intellectual disability; Hypertonia; Failure to thrive

Female

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001350748.2:c.2522dupA	2		Hypotonia, Infantile, with Psychomotor Retardation and characteristic Facies 1

Had a similarly affected deceased sibling