611091.1.1

United Arab Emirates

Neurodevelopmental delay; Cerebellar atrophy; Abnormal facial shape; Hyperactivity

Male

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_017755.6:c.1020del	2		Mental Retardation, Autosomal Recessive 5

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
611091.1.2	United Arab Emirates		Unknown			Parent of 611091.1.1