610006.2.1 - CAGS

610006.2.1

Country

Somalia

HPO Terms

Global developmental delay; Hypotonia; Seizure;

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Sex

Male

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001609.3:c.303+3A>G	2		2-Methylbutyryl-CoA Dehydrogenase Deficiency

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References

Madsen et al. 2006

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
610006.2.2	Somalia		Female			Mother of 610006.2.1

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© CAGS 2024. All rights reserved.

© CAGS 2024. All rights reserved.