616801.7.1

Egypt

Global developmental delay; Failure to thrive; Intellectual disability; Axial hypotonia; Hypoplasia of the corpus callosum

Female

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_032504.1:c.601-1G>A	2		Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2

Similarly affected male sibling deceased

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
616801.7.2	Egypt	Global developmental delay; Failure to thrive; Intellectual disability; Axial hypotonia; Hypoplasia of the corpus callosum	Male	Yes	Yes