605532.1.1

Egypt

Intellectual disability, mild; Hypotonia; Microcephaly; Hypospadias; Megalocornea; Cerebral atrophy

Male

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_022739.4:c.1921A>G	2
NM_016627.5:c.25C>T	2

Authors classified these gene variants as "moderately confident" novel candidates for neurodevelopmental disorders.

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
605532.1.2	Egypt	Intellectual disability, mild; Hypotonia; Microcephaly; Hypospadias; Megalocornea; Cerebral atrophy	Male	Yes	Yes	Relative of 605532.1.1