616449.1.2

Country

Lebanon

HPO Terms

Psychomotor retardation; Hypotonia; Global developmental delay; Wide anterior fontanel; High forehead; Sparse scalp hair; Sparse eyebrow; Hypertelorism; Nevus flammeus; Short philtrum; Depressed nasal bridge; Broad nasal tip; Exaggerated cupid's bow

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Sex

Female

Family History

Yes

Parental Consanguinity

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_030973.4:c.518T>C	2	NA	Basel-Vanagait-Smirin-Yosef Syndrome

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Remarks

Sister of proband

References

Nair et al, 2019

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
616449.1.1	Lebanon	Cleft palate; Coarctation of aorta; Ventricular septal defect; Global developmental delay; Psychomotor retardation; Wide anterior fontanel; High forehead; Sparse scalp hair; Sparse eyebrow; Depressed nasal bridge; Broad nasal tip; Hypertelorism; Short philtrum; Wide mouth; Thin upper lip vermilion; Bilateral single transverse palmar creases; Hypotonia	Male	Yes	No	Proband