609069.1

Country

Saudi Arabia

HPO Terms

Intrauterine growth retardation; Cerebellar atrophy; Fetal distress; Abnormal facial shape; Bilateral talipes equinovarus; Joint stiffness; Diabetes mellitus; Optic atrophy; Death in infancy

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Sex

Male

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_178161.3:c.437_460del	2	NA	Pancreatic and Cerebellar Agenesis

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References

Al-Shammari et al. 2011