218600.1.1

Country

Lebanon

HPO Terms

Intrauterine growth retardation; Absent thumb; Poikiloderma; Short stature; Abnormal facial shape; Motor delay; Failure to thrive; Poor appetite; Limb undergrowth; Hypoplasia of the radius; Hypoplasia of the ulna; Generalized bone demineralization

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Sex

Male

Family History

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_004260.3:c.3056-2A>C	2		Baller-Gerold Syndrome

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Remarks

Parents are first-cousins

References

Mégarbané et al. 2000;
Van Maldergem et al. 2006

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
218600.1.2	Lebanon		Male	No		Father of patient 218600.1.1
218600.1.3	Lebanon		Female	No		Mother of patient 218600.1.1