620007.2.1

Jordan

Global developmental delay; Intellectual disability, mild

Male

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_139278.4:c.991G>A	2	NA	Intellectual Developmental Disorder with Muscle Tone Abnormalities and Distal Skeletal Defects

Index patient from 'family 4' in the publication

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
620007.2.2	Jordan	Global developmental delay; Intellectual disability, mild	Male	Yes	Yes	Brother of 620007.2.1
620007.2.3	Jordan		Male			Father of 620007.2.1
620007.2.4	Jordan		Female			Mother of 620007.2.1