616140.2

Country

Saudi Arabia

HPO Terms

Global brain atrophy; Thin corpus callosum; Talipes equinovarus; Bilateral tonic-clonic seizure; Severe global developmental delay; Asthma; Recurrent respiratory infections; Hydrocephalus; Axial hypotonia; Brisk reflexes; EEG abnormality

Back to search Result

Sex

Female

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_002887.4:c.104T>G	2		Leukodystrophy, Hypomyelinating, 9

Download Table

References

Shaheen et al. 2019