266270.1.1

Lebanon

Gingival bleeding; Intellectual disability; Gingival overgrowth; Fibrous dysplasia of the bones ;

Female

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_133171.5:c.1817T>G	2		Ramon Syndrome

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
266270.1.2	Lebanon	Gingival bleeding; Intellectual disability; Gingival overgrowth; Fibrous dysplasia of the bones ; Short stature;	Male	Yes	Yes	Sibling of 266270.1.1; decesaed
266270.1.3	Lebanon		Male			Father of 266270.1.1
266270.1.4	Lebanon		Female			Mother of 266270.1.1