253200.2

Country

Saudi Arabia

HPO Terms

Dandy-Walker malformation; Hydrocephalus; Kyphosis; Strabismus; Hypermetropia; Abnormality of the male genitalia; Abnormal facial shape; Genu valgum; Pectus carinatum; Systolic heart murmur

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Sex

Male

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_000046.5:c.753C>G	2	NA	Mucopolysaccharidosis Type VI

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References

Maddirevula et al. 2018

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
253200.1	Saudi Arabia	Short stature	Male		Yes