241520.4.1

Lebanon

Square face; High forehead; Proptosis; Short stature; Genu varum; Hyperostosis; Sclerosis of skull base; Increased bone mineral density

Female

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_004407.3:c.1A>G	2		Hypophosphatemic Rickets, Autosomal Recessive, 1

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
241520.4.2	Lebanon	Square face; High forehead; Proptosis; Short stature; Genu varum; Hyperostosis; Sclerosis of skull base; Increased bone mineral density	Female	Yes	Yes	Sister of 241520.4.1