270400.4.1

Country

Sudan

HPO Terms

Growth delay; Microcephaly; Generalized hypotonia; Cryptorchidism; Hypospadias; 2-3 toe syndactyly; Epicanthus; Ptosis; Low-set, posteriorly rotated ears; Wide nasal bridge; Microretrognathia

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Sex

Male

Family History

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001360.2:c.1055G>T	2		Smith-Lemli-Opitz Syndrome

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References

Al-Owain et al. 2012