303350.1

United Arab Emirates

Global developmental delay; Intellectual disability ; Strabismus; Adducted thumb; Spastic diplegia; Babinski sign; Ankle clonus; Shuffling gait

Male

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001278116.2:c.604G>T	1		MASA Syndrome