615419.7

Saudi Arabia

Infantile axial hypotonia; Neurodevelopmental delay; Bilateral tonic-clonic seizure with generalized onset;

Male

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001350748.2:c.4237C>T	2		Hypotonia, Infantile, with Psychomotor Retardation and characteristic Facies 1