311200.4

Country

Arab

HPO Terms

Milia; Abnormal hair morphology; Abnormal facial shape; Abnormal tongue morphology; Abnormal oral frenulum morphology; Abnormality of limbs; Abnormal dental morphology

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Sex

Female

Subject Variants

Variant Name	Allele Count	Associated Disease
NM_003611.3:c.1193_1196del	1	Orofaciodigital Syndrome I

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Remarks

Sporadic case

References

Del Giudice et al. 2014