615419.14

Lebanon

Hypertelorism; Short nose; Short neck; Femoral bowing; Metaphyseal widening

Unknown

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001350748.2:c.1567A>G	2		Hypotonia, Infantile, with Psychomotor Retardation and characteristic Facies 1