268310.3.1

Egypt

Abnormal facial shape; Short stature; Dental crowding; Gingival overgrowth; Mesomelia; Reduced arm span; Brachydactyly; Ventricular septal defect

Male

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_004560.4:c.574T>G	2		Robinow Syndrome, Autosomal Recessive

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
268310.3.2	Egypt		Male			Father of 268310.3.1
268310.3.3	Egypt		Female			Mother of 268310.3.1