613029.2

Country

Saudi Arabia

HPO Terms

CNS hypomyelination; Abnormal corpus callosum morphology; Abnormal cortical gyration; Mild malformation of cortical development; Chromosomal breakage induced by ionizing radiation; Anorectal anomaly; Global developmental delay; Neuroblastoma; Mixed hypo- and hyperpigmentation of the skin

Back to search Result

Sex

Female

Family History

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_000059.4:c.7007G>A	2		Glioma Susceptibility 3

Download Table

References

Shaheen et al. 2019

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
613029.1	Saudi Arabia	Glioma; Patent ductus arteriosus; Ectopic kidney ; Vesicoureteral reflux; Hip dysplasia; Retinoblastoma ; Hypertension; Dysphagia ; Chromosomal breakage induced by ionizing radiation	Female	Yes	Yes