615942.2

United Arab Emirates

Global developmental delay; Hypotonia; Lower limb spasticity; Autism; Abnormal periventricular white matter morphology

Female

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001080510.4:c.434_438del	2		Mental Retardation, Autosomal Recessive 44

Cousin with MPS3