610006.1.1

Eritrea

Neonatal hypoglycemia; Hypoxemia; Global developmental delay; Seizure;

Male

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001609.3:c.303+3A>G	1		2-Methylbutyryl-CoA Dehydrogenase Deficiency
NM_001609.3:c.763C>T	1		2-Methylbutyryl-CoA Dehydrogenase Deficiency

Compound heterozygous

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
610006.1.2	Eritrea		Female	Yes	No	Sister of 610006.1.1; Prenatally diagnosed