617360.1

Country

United Arab Emirates

HPO Terms

Microcephaly; Strabismus; Visual impairment; Delayed speech and language development; Intellectual disability; Severe muscular hypotonia; Global developmental delay; Motor delay; Failure to thrive; Abnormal cerebral white matter morphology; Cerebral hypomyelination

Back to search Result

Sex

Female

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_003718.5:c.1499C>T	1		Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
NM_005249.5:c.256del	1		Rett Syndrome, Congenital Variant