616801.5

Egypt

Infantile axial hypotonia; Psychomotor retardation; Failure to thrive; Hypoplasia of the corpus callosum

Female

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_032504.1:c.5671C>T	2		Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2

Similarly affected paternal cousin (deceased in childhood)