613744.1

United Arab Emirates

Abnormality of brain morphology; Thin corpus callosum; Hypotonia; Global developmental delay

Female

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_007347.5:c.3214_3215del	2		Spastic Paraplegia 51, Autosomal Recessive

Similarly affected cousin