617977.3.1

Saudi Arabia; Syria

Global developmental delay; Spastic tetraplegia; Microcephaly; Ventriculomegaly; Cerebral white matter hypoplasia; Thin corpus callosum

Female

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_019613.4:c.673C>T	2		Neurodevelopmental Disorder with Spastic Quadriplegia and Brain Abnormalities With Or Without Seizures

Patient was from a Saudi Arabian family of Syrian origin

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
617977.3.2	Saudi Arabia; Syria		Male			Father of 617977.3.1
617977.3.3	Saudi Arabia; Syria		Female			Mother of 617977.3.1