615075.1

Country

Saudi Arabia

HPO Terms

Motor delay; Delayed speech and language development; Intellectual disability; Specific learning disability; Microcephaly; Atrial septal defect; Tricuspid regurgitation; Premature birth

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Sex

Female

Family History

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001904.4:c.999C>G	1		Neurodevelopmental Disorder with Spastic Diplegia and Visual Defects

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References

Monies et al. 2017