608840.1.1

Lebanon

Intellectual disability, mild; Cerebellar malformation; Reduced muscle fiber alpha dystroglycan

Female

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
LARGE1, 42.9-KB INS/4.1-KB DEL	2		Muscular Dystrophy-Dystroglycanopathy (Congenital with Mental Retardation), type B, 6

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
608840.1.2	Lebanon	Intellectual disability, mild; Cerebellar malformation; Reduced muscle fiber alpha dystroglycan	Female	Yes	Yes	Sibling of 608840.1.1
608840.1.3	Lebanon		Female			Mother of 608840.1.1
608840.1.4	Lebanon		Male			Father of 608840.1.1