249000.5.1

Country

Saudi Arabia

HPO Terms

Death in infancy; Microcephaly; Potter facies; Sloping forehead; Microphthalmia; Hypertelorism; Low-set ears; Wide mouth; Lobulated tongue; Natal tooth; Short neck; Webbed neck; Occipital encephalocele; Dandy-Walker malformation; Renal cyst ; Polydactyly; Talipes equinovarus

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Sex

Unknown

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_017777.4:c.1126dup	2		Meckel Syndrome, Type 1

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References

Shaheen et al. 2013