214800.1

Lebanon

Neurodevelopmental delay; Microcephaly; Micropenis; Hydronephrosis; Single umbilical artery; Leukodystrophy

Unknown

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_017780.4:c.6112G>A	1		CHARGE Syndrome

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
214800.2	Lebanon	Global developmental delay; Intellectual disability; Abnormal facial shape	Female	No	No	de novo mutation
214800.3	Lebanon	Global developmental delay; Failure to thrive; Abnormal heart morphology	Male	No	No	de novo mutation