270400.2.1

Country

Saudi Arabia

HPO Terms

Growth delay; Microcephaly; Generalized hypotonia; 2-3 toe syndactyly; Hypertelorism; Low-set ears; Cataract; Micrognathia; Low posterior hairline; Webbed neck; Wide intermamillary distance

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Sex

Female

Family History

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001360.2:c.861C>A	2		Smith-Lemli-Opitz Syndrome

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References

Al-Owain et al. 2012