616801.2

Syria

Neonatal hypotonia; Neurodevelopmental delay; Failure to thrive; Triangular face; High forehead; Strabismus

Male

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_032504.1:c.8116C>T	2		Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2