620007.4.1

Saudi Arabia

Global developmental delay; Intellectual disability, mild; Abnormality of limb bone morphology

Female

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_139278.4:c.1117del	2	NA	Intellectual Developmental Disorder with Muscle Tone Abnormalities and Distal Skeletal Defects

Index patient from 'family 5B' in the publication

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
620007.4.2	Saudi Arabia	Global developmental delay; Intellectual disability, mild; Abnormality of limb bone morphology	Female	Yes	Yes	Sister of 620007.4.1
620007.4.3	Saudi Arabia		Male			Father of 620007.4.1
620007.4.4	Saudi Arabia		Female			Mother of 620007.4.1