617977.2.1

Saudi Arabia; Syria

Global developmental delay; Spastic tetraplegia; Seizure; Microcephaly

Male

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
617977.2.2	Saudi Arabia; Syria	Global developmental delay; Spastic tetraplegia; Seizure; Microcephaly; Ventriculomegaly; Cerebral white matter hypoplasia; Thin corpus callosum	Female	Yes	Yes	Sibling of 617977.2.1
617977.2.3	Saudi Arabia; Syria		Female			Mother of 617977.2.1