268310.1.1

Country

Lebanon

HPO Terms

Short stature; Macrocephaly; Prominent forehead; Hypertelorism; Upslanted palpebral fissure; Proptosis; Short nose; Short nasal bridge; Dental crowding; Mesomelic arm shortening; Limited pronation/supination of forearm; Brachydactyly; Syndactyly; Abnormal vertebral morphology

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Sex

Female

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_004560.3:c.814C>T	2	NA	Robinow Syndrome, Autosomal Recessive

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Remarks

Patient 1

References

Mehawej et al., 2012

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
268310.1.2	Lebanon	Short stature; Macrocephaly; Prominent forehead; Hypertelorism; Upslanted palpebral fissure; Proptosis; Short nose; Short nasal bridge; Dental crowding; Mesomelic arm shortening; Brachydactyly; Syndactyly	Female	Yes	Yes	Patient 2, sister of 268310.1.1
268310.1.3	Lebanon		Male	No	Yes	Father of 268310.1.1 and 268310.1.2
268310.1.4	Lebanon		Female	No	Yes	Mother of 268310.1.1 and 268310.1.2