618479.1

Lebanon

Hypotonia; Neurodevelopmental delay; Narrow forehead; Corneal dystrophy; Absence of labia majora; Agenesis of cerebellar vermis; Pain insensitivity

Female

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_005584.5:c.279_286del	2

Elder sister reported to have hydrocephalus and global development delay