616486.1

Saudi Arabia

Aplasia/Hypoplasia of the cerebellum; Hydrocephalus; Decreased thalamic volume; Abnormal facial shape; Spastic paraplegia

Female

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_032793.5:c.476C>T	2		Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Imaging Abnormalities