616801.6

Egypt

Psychomotor retardation; Failure to thrive; Choreoathetosis; Axial hypotonia; Parietal cortical atrophy; Frontal cortical atrophy

Male

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_032504.1:c.8058+2T>G	2		Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2