604020.1

Jordan

Intellectual disability; Macrocephaly; Astigmatism; Short stature; Strabismus

Male

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_003458.4:c.10988G>T	1		Intellectual Deficiency, Autosomal Recessive, Unclassified
NM_003458.4:c.11489G>A	1		Intellectual Deficiency, Autosomal Recessive, Unclassified