615286.1

United Arab Emirates; Yemen

Facial asymmetry; Hypotonia; Failure to thrive; Cerebral atrophy; Hypothyroidism; Rocker bottom foot; Hearing impairment

Male

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_138422.4:c.430G>A	2		Mental Retardation, Autosomal Recessive 36

Emirati patient of Yemeni origin