611091.3

Saudi Arabia

Trigonocephaly; Hypotelorism; Wide mouth ; Bulbous nose; Microtia ; Hyperactivity; Global developmental delay

Male

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_017755.6:c.1478del	2		Mental Retardation, Autosomal Recessive 5